Tag Archives: professional issues

by Katie Stoll | December 9, 2025 · 10:43 AM

Anatomy of an Industry-Sponsored Talk: Burden, Bias, and Biopharma

I have been reflecting on the recent National Society of Genetic Counselors conference, and I hope to continue a conversation about one session in particular within our genetic counseling community. The session titled, “Hypochondroplasia Unmasked: Recognize, Understand, Advocate,” was an industry-sponsored session, which means that a company paid a fee to host the event. Attendees must reserve a spot for these sponsored talks, and they typically include a meal (in this case, breakfast). This talk, sponsored by BioMarin Pharmaceutical, was held on the first full day of the conference and was very well attended by a robust audience of genetic counselors and students.

BioMarin is best known for Voxzogo (vosoritide), which was granted FDA approval to increase linear growth for individuals with achondroplasia in 2021. Voxzogo is now approved for use from birth until the end of growth and is administered through daily injections at a cost of >$300K per patient, per year. The approval of this treatment, as well as the manner in which it has been tested and promoted has been controversial in the achondroplasia community. Little People of America, the world’s largest and oldest advocacy organization for people with dwarfism, has raised concerns over the FDA approval and focus on growth velocity, stating that this aim does not meet the health or quality of life needs identified by individuals with achondroplasia and that challenges related to height are mainly a result of social bias, discrimination, and lack of universal design. Those advocating for use of vosoritide speculate that increasing growth velocity may ameliorate some health concerns common to achondroplasia including sleep apnea and spinal stenosis; however, the actual effect is unknown at this time.

Hypochondroplasia is a skeletal dysplasia characterized by disproportionate short stature and mild joint laxity. Its presentation is highly variable, and individuals may reach an adult height that overlaps with typical stature. For this reason, hypochondroplasia may go undiagnosed. Of those who do receive a diagnosis, most people with hypochodroplasia have an identifiable variant in the FGFR3 gene. Variants in FGFR3 are also associated with achondroplasia.

BioMarin does not have an FDA-approved treatment for hypochondroplasia; however, they currently have an active phase 3 study to assess vosoritide in individuals with hypochondroplasia to determine its impact on growth velocity. The speakers at the NSGC sponsored-session seemed careful not to speculate about vosoritide treatment for hypochondroplasia; yet, the company is regularly talking about vosoritide use in hypochondroplasia with their investors. On a recent investor call, BioMarin projected the potential commercial launch date of Voxogo for hypochondroplasia in 2027. Chief Commercial Officer, Cristen Hubbard, shared a bit about BioMarin’s marketing strategy: “We’ve built the infrastructure, the relationships, and the expertise to execute effectively as new indications come online, and Voxzogo for the treatment of hypochondroplasia represents a potential significant breakthrough for patients. … many children go undiagnosed for too long, and that is why one of our priorities is improving early diagnosis for hypochondroplasia worldwide. We’re driving initiatives like genetic reclassification, clinician education, and patient and caregiver awareness, all aimed at driving earlier diagnosis. We’re also optimizing diagnostic pathways so that in the future, children can potentially access therapy as early as possible.”

As an attendee at the BioMarin sponsored talk, I have been thinking about how genetic counselors fit into BioMarin’s broader strategy. I believe the talk was intended to help build the relationships with genetic counselors given we often have trusted relationships with patients, families, other providers and health systems. They may also recognize that we support access to genetic testing. And I suspect they recognize that because we are often the first point of contact when a genetic diagnosis is made, we have significant influence over the initial information patients and families receive regarding resources and potential treatments.

In many ways, BioMarin is laying the groundwork for genetic counselors to facilitate earlier and expanded diagnosis of hypochondroplasia, while shaping a favorable view of treatment. This positioning seems aimed at ensuring a greater potential patient population in the event of FDA approval of Voxzogo for use in hypochondroplasia.

Of particular concern, the presentation appeared to frame hypochondroplasia in the most negative terms. Its intention likely being to frame the condition as serious enough to justify early diagnosis and eventual treatment for our patients, but BioMarin’s rhetorical choices troubled me.This presentation aimed to exploit the biases of the audience by emphasizing how shorter stature results in health, social, and emotional harms for people with hypochondroplasia and their families and was done explicitly with a narrative of burden.

In the opening outline, the speakers highlighted the first two key objectives of the talk were to “recognize hypochondroplasia and barriers to diagnosis”, and to “understand the burden and impact of hypochondroplasia.” An online poll at the beginning of the talk asked attendees to rate on a 10 point scale “how well do you understand the burden of hypochondroplasia?” Over 80% of respondents indicated that they did not understand the burden well with a response from 1-3 with 1 indicating “not at all”. One slide heading read, “Hypochondroplasia is a rare skeletal dysplasia that can impose a substantial burden on affected individuals and their families”. The speakers repeatedly emphasized the social stigma associated with shorter stature as a cause of psychological distress. This is particularly problematic given that social stigma is a product of societal discrimination and not a product of short stature itself. Attributing the burden of social stigma to a person’s body rather than societal discrimination reinforces ableist tropes that disabled bodies require fixing rather than calling attention to societal marginalization.

The presenters reviewed studies on quality of life scores which they used as evidence to justify that hypochondroplasia created a social and emotional burdens for families including difficulty in participating in daily activities, stress and feelings of social exclusion, and environmental barriers to development of autonomy. More progressive views of disability social justice would attribute these same findings differently and note evidence of accessibility barriers, lack of appropriate accommodations, and lack of community support, rather than problems inherent with short stature. This emphasis on the burden felt intentional, to exploit ableist assumptions about stature and disability to convince genetic counselors that competency in discussing hypochondroplasia involves framing short stature as a burden. Consequently, parents could be more easily persuaded that treatment of short stature through pharmaceutical intervention is then necessary.

At the end of the presentation the speakers repeated the same poll questions – “Following this symposium, how well do you understand the burden of hypochondroplasia?” This time the responses were almost reversed – nearly all respondents answered 8-10 on the 10 point scale (10 =“extremely well”). The presentation ended abruptly and the microphone was cut before anyone could ask a question. Indeed, when one of my colleagues did stand up to ask a question about the disability social-justice framing of the messaging, and the microphone was not turned on. We followed up with the speakers about the concern and were informed that they do not create the slides themselves but rather rely on BioMarin for the content and framing.

As genetic counselors we value helping families reach a diagnosis and support informed decision making about genetic testing and care. It is crucial that we critically assess where our information is coming from and the factors motivate the delivery of this information. We need to be attuned to our own biases and recognize when they may be exploited.

I urge my colleagues to recognize how our biases shape how we think and talk about the genetic conditions, testing, and treatment. Please consider carefully the source of the information you receive and seek out information and perspectives from people with lived experiences. As commercial interests in genetic testing and treatment expand rapidly, the choices we make about what information we emphasize, whose voices we center, and how we frame genetic conditions has the power not just to influence individual families’ decisions, but also to shape the societal discourse on diversity and disability.

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Filed under Katie Stoll

Tagged as Ableism, conflict of interest, Disability advocacy, Genetic counseling, genetic testing, Hypochondroplasia, Industry bias, Medical ethics, Pharmaceutical marketing, professional issues

by Robert Resta | March 10, 2025 · 1:56 PM

Potential Implications of The Trump Administration Policies For Genetic Counseling – Part 1: The Impact on Genetic Counselors

This is a two part blogpost. Part 1 focuses on the impact of Trump’s policies on genetic counselors. Part 2, which I plan to post next week, will focus on the impact on patients.

When everyone is up front and they’re not playing tricks
When you don’t have no freeloaders out to get their kicks
When it’s nobody’s business the way that you want to live
Oh my mama told me
There’ll be days like this
(From “Days Like This” by Van Morrison, 1995; not to be confused with the delightful Shirelles 1961 song with a similar name)

Many genetic counselors are zombie-shocked over the cruel, thoughtless, and harmful policies of Donald Trump (Pronouns: I!/ME!/MINE!). Genetic counselors hold a broad range of political beliefs but most tend to lean left. But liberal and ultra-conservative genetic counselors share a common set of values around patient care, as embodied in our Code of Ethics, re-enforced during our training, and laid out in our textbooks. So even if you support some of Trump’s non-medical policies, surely there should be near universal condemnation, or at the very least concern, over the implications of Trump’s policies for our profession and our patients.

Much of what I discuss below is speculation on what may happen and is not meant to be an exhaustive analysis. The policies are for the most part new and are only starting to impact medical care. Some are working their way through the court system but it remains to be seen how the rulings will turn out and if the Administration will ignore them. Also, the policies tend to change with, as far as I can tell, the direction of the wind (see tariffs). Hopefully, my speculation and predictions will not fully pan out.

First off, the employment of many genetic counselors is at stake. Genetic counselors who work at the National Institutes of Health (NIH) or the Department of Veterans Affairs or other federal agencies such as the military may have their positions may be eliminated by the reckless DOGE budget cutting antics (putting Musk in charge is like hiring Moe, Larry, and Curly to make your car run more efficiently. Man, wouldn’t you like to take a wrench to his nose). In addition, the salaries of some genetic counselors

engaged in research are fully or partially funded by federal government grants. With the cancellation of research proposals that address DEI in any way shape or form – even if DEI is only mentioned in the proposal – or allude to any of the many other topics that get Donald’s knickers in a twist, funding for these positions may be lost. The employment effects may be further worsened as Trump targets federal funding for universities that don’t conform to his distorted view of the world, such as the recent canceling of $400 million in federal funds allocated to Columbia University under the guise of concern for harassment of Jewish students on campus. The safety of students is a serious concern to be sure, but cutting off funding is just an attempt to stick it to a “woke” university. All this at a time when the job market for genetic counselors is less than ideal.

The underlying economics of genetic counseling services will likely hinge on genetic counselors becoming covered providers under Medicare. The National Society of Genetic Counselors (NSGC) has been working for over a decade to achieve this goal, which seems to be frustratingly closer but not quite there every year. As I noted in a previous post, should the Access to Genetic Counselor Services Act actually come up for a vote in Congress, congressional members may reject it because of NSGC’s DEI policies, as clearly articulated in its gender-first pedigree nomenclature Practice Resource. The profession may miss out on becoming Medicare-covered providers because we are trying to be decent human beings who respect the dignity of our patients.

Trump’s policies on limiting the funding NIH research has the potential to impact the types of research that genetic counselors can engage in or benefit from, especially if some aspect of DEI is involved. The net effect will be delivering sub-standard and unresearched care to some of our most vulnerable patients. Here are the NIH research funding guidelines, as outlined in a recent NIH memo:

Category 1 – The sole purpose of the project or conference is DEI-related – WILL NOT FUND
Category 2 – Projects or conference that partially supports DEI activities – WILL FUND ONLY IF THE DEI ACTIVITIES ARE ANCILLLARY TO THE PURPOSE OF THE PROJECT AND ARE ELIMINATED FROM THE GRANT
Category 3 – Project or conference that does not support DEI activities but may contain language related to DEI – WILL FUND ONLY IF DEI LANGUAGE IS REMOVED
Category 4 – Project or conference that does not support any DEI activities – CAN BE FUNDED.

And here are the justifications for these guidelines, from an appendix to the same memo:

DEI: “Research programs based primarily on artificial and non-scientific categories, including amorphous equity objectives, are anti-thetical to scientific inquiry, do nothing to expand our knowledge of living systems, provide low returns on investment and ultimately do not enhance health, lengthen life, or reduce illness. Worse, so-called diversity, equity, and inclusion studies are often used to support unlawful discrimination on the basis of race and other protected characteristics, which harm the health of Americans.”
Transgender issues: “Research programs based on gender identity are often unscientific, have little identifiable return on investment, and do nothing to enhance the health of many Americans. Many such studies ignore, rather than seriously examine, biological realities.”

How much does the Republican Party hate LBGQT+ people? During the 2024 campaign, it spent one quarter of a billion dollars on anti-transgender and anti-LBBQT+ advertising. This is a policy of pure hate and part of the attempt to legislate LGBQT+ people out of existence. Call it administrative genocide.

Trump’s policies also have direct bearing on how genetic counselors document patient encounters in the medical record. Being identified as transgender or non-cisgender or non-heterosexual places patients in a very vulnerable position. Once could easily imagine the government obtaining a warrant or whatever legal document to obtain the medical records of any of our patients; HIPAA guidelines allow healthcare providers to release records without patient permission “as required by law (including court orders, court-ordered warrants, subpoenas) and administrative requests.” An Executive Order signed on January 28, among other horrible things, proclaims that it “Stops federal agency efforts, specifically by the Department of Justice, the Department of Homeland Security, and Federal Trade Commission, to protect patient and provider privacy and security.” Now imagine if a patient had gender-affirming care in a state where it is banned. This puts genetic counselors in a very difficult position. On the one hand, knowing if a person is transgender or non-heterosexual can be important for their healthcare guidance and genetic counseling. On the other hand, documenting that information in the medical record can potentially bring great harm to patients. This is going to require some awfully complex and sensitive discussions with patients. But mostly it will probably just discourage them from seeking medical care. Think I am exaggerating? Well, recall that in 2023, Tennessee’s Attorney General forced Vanderbilt University Medical Center to hand over the medical records of their transgender patients.

This same dilemma holds true for documenting the medical, reproductive and family histories of patients who have undergone a termination of a pregnancy, particularly in states with strict anti-abortion laws. The patient or the provider who performed the abortion could face jail time.

Trumpian attempts to remove “unacceptable” DEI language from federal government discourse and to force federal agencies to modify the information they provide to conform with the president’s views and policies threatens the utility or even the very existence of some of the reference tools and research projects that genetic counselors rely on every day. If we can no longer believe a word that comes out of the mouth of the president or his representatives, and if his policies affect what can be said by government agencies, how are we to trust the content of PubMed, ClinVar, ClinGen, the Morbidity and Mortality Weekly Report and other CDC publications, etc.? What will become of the Metropolitan Atlanta Congenital Defects Program, which was established in 1967 by CDC to monitor the incidence of congenital conditions in the Atlanta area or the National Birth Defects Prevention Network, which maintains a national network of surveillance of congenital conditions? What will be the fate of the International Clearinghouse for Birth Defects Surveillance, a CDC-sponsored program which brings together birth defects monitoring programs from around the world? Maybe the DOGE apparatchiks, in all their glorious ignorance and hubris, will just eliminate them altogether.

Trump’s policies could threaten the safety of some genetic counselors in their workspaces. They may now feel physically and psychologically unsafe at work, particularly those who are not White or heteronormative. They don’t know if their employers will protect them or fire them. Co-workers may blame them for budget cuts that result from decreased federal funding or accuse them of being “DEI hires.” They may be concerned that patients will feel free to harass, criticize, abuse them, or even report them to “the authorities.”

Genetic counseling has a history embedded in eugenics, a history that the profession has tried to disentangle itself from. Here we are again, having to confront the specter of eugenics in our midst. In another chapter from the book titled “We Don’t Learn Any Lessons From History,” the policies and rhetoric of Trump et al. channel the spirit of the Eugenics Record Office. Republican labeling of immigrants as rapists, thieves, genetically inferior, and of low intelligence is the exact same language employed by early 20th century eugenicists to describe, among others, Italian and Eastern European immigrants “flooding” the country (incidentally, my grandfathers were born in Italy and Poland but managed to arrive before the 1924 Johson-Reed Act put extreme limits on the number of immigrants allowed from those countries). Ultra-conservative eugenicists, such as Madison Grant in his 1916 book The Passing of the Great Race, stoked fears of “White Replacement” whereby Northern and Western European American stock would be replaced by large numbers of undesirable immigrants and their many offspring (at the time, Southern and Eastern Europeans were considered a separate race from people of Anglo-Saxons and Scandinavians). So too do Trump, Musk and their ilk seek to limit immigration, deport immigrants, and push pronatalist policies that encourage “native-born Americans” to have more children.

“Leave now. If you don’t, we will find you and we will deport you. You will never return.”
Kristi Noem, Secretary of Homeland Security, from a TV commercial threatening immigrants

“Give me your tired, your poor,
Your huddled masses yearning to breathe free,
The wretched refuse of your teeming shore.
Send these, the homeless, tempest-tost to me,
I lift my lamp beside the golden door!”
– Emma Lazarus, *The New Colossus*

I have heard grumbling from some genetic counselors that they are upset by the lack of a strong voice and policy action from NSGC. They want to know just where their professional organization stands on these issues and how it will support its members and the patients they serve during these tumultuous times. NSGC claims to be committed to DEI issues, and this is a test of the organization’s sincerity and willingness to fight for their principles. The grumbling genetic counselors may have a point.

*On the left is a political cartoon from 1903; on the right is a political cartoon from The Chattanooga Times from 2010.*

Of course, all these policies and Executive Orders affect the care genetic counselors can provide to our patients, who will suffer the most. I will take up the topic of the impact on patients in the next week or so in Part 2.

_______________________________________________________

This Friday, March 14th at 4 PM EST, several genetic counselors are independently organizing a mutual support zoom call for genetic counselors to share in a safe and supportive space their stress, anger, frustration, views, anxieties and whatever other emotions they are experiencing as a result of the Trump insanity. If you are interested in attending (no participation required), contact Jehannine (J9) Austin (jehannine.austin@ubc.edu) or Kate Wilson (kate.genetics@gmail.com) or if you are on BlueSky, Naomi Wagner (@naomi-cgc-bsky.social).

_________________________________________________________

In a previous posting I suggested some actions and organizations that genetic counselors can consider doing or joining if they feel the need to fight back in some way. Jill Fonda Allen has since offered one other organization to consider getting involved with – Indivisible, which, per their website is “a grassroots movement of thousands of local Indivisible groups with a mission to elect progressive leaders, rebuild our democracy, and defeat the Trump agenda.” Thank you, Jill.

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Filed under Robert Resta

Tagged as DEI policies, effect of Trump policies on genetic counseling, Genetic counseling, genetic counselors, professional issues

by dnaexchangeguest | December 16, 2024 · 12:26 PM

Guest Post: Can Special Interest Groups Survive the Open Access Pass?

by Smita K. Rao, MBBS, MS, LCGC and Michelle Moore, MS, LCGC

Smita K. Rao, MBBS, MS, LCGC is the past co-chair of the International SIG. Michelle Moore, MS, LCGC is the current co-chair of the J.E.D.I Subcommittee for Lab/Industry SIG

As crowds of newly graduated genetic counselors (GCs) herded through the vast Convention Center in New Orleans for the 43rd National Society of Genetic Counselors (NSGC) Annual Conference in September, a much smaller group of more seasoned GCs instinctively veered toward the Special Interest Group (SIG) pavilion. But the energy of previous years had disappeared – entering the pavilion felt like walking into a middle/high school science fair. SIG leaders or their representatives were assigned specific locations where a sign and some sparse brochures or flyers displayed information. Each SIG presented their best elevator pitch as people walked by to highlight the benefits their SIG could provide. Is this the new face of the SIGs in the world of the Open Access Pass?

In order to understand what the Open Access Pass is and how it came about, some historical background is necessary. SIGs historically have created communities that support the more focused interests of its members. SIG leaders invest volunteer hours to help promote these interests by providing opportunities for further education and research through webinars, social hours, and workshops

In 2021, The Exeter Group’s NSGC Report exposed what many SIG leaders had already been hearing from their membership for years – genetic counselors of color, the LBGTQ+ community, and those with disabilities felt ostracized and unsupported. Being the grassroot factor that connects the Society with its members, the ripple effects of the events of 2020 (the pandemic and social justice movement) brought the discussion of justice, equity, diversity and inclusion (J.E.D.I.) to the doorstep of the SIGs. Many SIGs created their own J.E.D.I. subcommittees and safe spaces to support their members. Social hours and webinars were dedicated to J.E.D.I. initiatives and how personal changes could propel a larger positive shift.

In response to The Exeter Group’s report, NSGC leadership posted a statement of solidarity proposing the formation of a J.E.D.I. task force. But forming a task force takes time and the SIGs continued to plead for support and immediate direction from the NSGC leadership. SIG leaders published a Perspectives article that beautifully communicated the challenges they faced, the resources successfully created thus far, and provided constructive ideas on how NSGC leadership could provide concrete, immediate support to the SIGs. Subsequently NSGC leadership introduced a two-phase response to SIG requests. The first phase dissolved the SIG-led webinar series (where each SIG typically held 6-8 webinars a year as a cost-effective CEU option, at times without a charge) and transitioned to a NSGC-led umbrella webinar series where each SIG could hold only one webinar each year. The CEU fees are now higher for each individual webinar and for the entire series. In the second phase, NSGC created a SIG Task Force to define the role of the SIGs.

Although many felt this two-phase response appeared counter to the suggestions in the Perspectives article, SIG leaders welcomed the opportunity to be a part of the solution. Additionally, some SIGs took independent initiative to create new educational opportunities, such as the Student/New Grad SIG’s Genetic Counselors for Racial Justice (GCRJ) platform. Not all SIGs survived these changes, with some SIGs disbanding, forming another group outside NSGC, or merged with other SIGs. NSGC’s actions led to the creation of the Open Access Pass, which now allows members to pay one fee for access to all SIGs, instead of paying separately for each SIG membership.

The concept of the Open Access Pass is a commendable attempt (and supported unanimously by SIG leaders) to increase inclusion and access. However, when combined with fewer webinars and reduced funding, it has further restricted SIG autonomy. While lowering SIG membership costs decreases the financial burden for some members, it does not help address the larger issue of NSGC membership fees being among the highest in various genetic societies in the nation. Additionally, the Open Access Pass necessitates that all SIG expenditures come out of the NSGC budget with approval from the NSGC Board and other specific subcommittees. This limits each SIG’s ability to fund multiple projects or initiatives. Now SIGs must choose and put forward 1-2 projects in each category of research and special projects for approval to be funded. This new structure reduces the community reach of each SIG as they are unable to support the smaller activities that might have been their focus.

The SIGs have continued to navigate this very tumultuous time of the last four years. Despite mentioning increased participation in SIGs during the State of Society Address at the Annual meeting, volunteerism has been on the decline in the world at large. Although each NSGC member is “involved” in more SIGs, the actual amount of time they can give to each SIG activity is still limited. Many SIGs have noted decreased attendance at SIG meetings and fewer volunteers for SIG projects. The Open Access Pass did not cause this decline, but it compounds an existing trend of reduced volunteerism due to widespread job cuts across the genetic industry in recent years, increasing anxiety and unrest among our members.

NSGC’s J.E.D.I. plan is commendable and proposes critical changes in many segments of its organization. At the State of the Society, we also heard that the Exeter Group released another NSGC report this year. Our organization’s DEI index has gone from a C- to a C grade designation. However, membership still wants projects to be implemented that will impact our members. The SIG experience demonstrates the challenge of balancing the desire to bring about radical change and the multiple barriers to achieving this goal. The new SIG structure is still in its infancy. Only time will tell if these changes bring to fruition an increase in access and equity or continue to lower the individual impact and autonomy of each SIG.

As previous SIG leaders, we are thankful for the significant impact of work we brought about while enjoying the camaraderie in the process of supporting the individual priorities of our SIGs. NSGC leadership must continue their efforts to listen more deeply, to be more transparent, and to execute with more meaningful intent. Learn from other organizations such as the Minority Genetic Professional Network (MGPN), whose warm, personalized efforts at the Annual Conference were hugely refreshing! Diversity and equity exuded from every action, every smile, every hug, every exchange received when entering their room for a bit of respite and recovery. The positive energy of the MGPN reminds us of the original purpose of the SIGs – to be a welcoming, safe space, where J.E.D.I. initiatives are a given and NOT a choice. Equity begins with understanding the needs of our community and providing opportunities for inclusion and connection. These are values and principles that an organization MUST inculcate into every project, committee, and subgroup it fosters. Replace the science fair carousel at the SIG pavilion and assign spaces for SIGs to gather at the conference to celebrate their member communities. Work toward what our members truly need. Dig deeper for meaningful change. Take Action over Talk. Thank you.

Workforce Woes

This spring we will welcome a record number of new genetic counselors to the field. Based on 2022 year Match data from the National Matching Service Inc, we expect >500 new graduates in 2024.* The growing number of graduates is the natural result of more training programs and expanding class sizes in existing programs.

Unfortunately, it seems that this record number of new grads arrive to one of the worst job markets for genetic counselors in many years. Based on conversations I have had with a number of recent or soon-to-be genetic counseling graduates and informal conversations with several genetic counselors involved with training program administration, many new grads are having a hard time finding that first position. It is really tough for job seekers right now.

I am writing this to provide some historical background about why we might be in this position, and where we have so missed the mark in terms of supply and demand. It is my hope that we can learn from these mistakes and make changes as a profession to improve job opportunities, growth and security while also improving genetic services.

I am also writing though because I want to give assurance to all those entering the field in 2024 that it will get better. When I graduated, 20+ years ago I came out of my training program without a job, and I know how devastating and heavy that can feel. The job market has waxed and waned in the past and the pendulum will swing the other way at some point. The reason for my optimism is that, although our current job boards don’t reflect this, I believe that now, more than ever there is a need for the expertise and services that we can provide as genetic counselors. I want to reassure you that you will one day find that perfect job. And I also want you to know that the fact that you don’t yet have a job yet is not your fault.

How did we get here?

Recent history provides context for how we got to this point. Just over a decade ago, three major events rocked the field of clinical genetics:

Although it is hard to believe that there was a time before next generation sequencing (NGS), Sanger sequencing was the standard for many years. NGS allowed for gene sequencing to be done more cost-effectively and around 2010 we started seeing more multigene panels come to the market.

In late 2011 the first prenatal cell-free fetal DNA screening test, MaterniT21, became commercially available through Sequenom. In the years that followed, versions of cfDNA tests were released by multiple companies, creating an intensely competitive commercial landscape.

In June of 2013, Myriad Genetics lost their monopoly on BRCA1 and BRCA2 testing when the U.S. Supreme Court ruled that human genes could not be patented in the landmark case, Association for Molecular Pathology v. Myriad Genetics. This opened an opportunity for many labs to enter the genetic testing market.

All of these factors contributed to an enormous growth of the genetic testing industry and rapid escalation in demand for genetic counselors. The commercialization of the field of genetic testing was unlike anything we had seen before. Genetic testing was front page news and investors were lining up to be a part of it. Labs, flush with venture capital money, created many new job opportunities for genetic counselors.

In some cases, the job creation was very direct, with labs hiring genetic counselors as medical science liaisons, or to work in variant interpretation, product development and direct patient care roles. In other cases, the jobs created were with the telehealth companies labs hired to provide genetic counseling support to providers and patients ordering their brand of test. Additionally, the growing availability of genetic testing and investment in genetic testing technology created jobs in hospitals, clinics and research settings.

By 2015 it was clear that the demand for genetic counselors exceeded the number of trained people to fill the jobs. The following data was presented at the National Society of Genetic Counselors Annual Conference in 2015:

This graph contrasted the number of job postings on the NSGC job board with the number of genetic counselors coming out of training programs. In 2015, we had 291 genetic counseling program graduates compared to 655 job postings.

I am sad to say that this year, with ~500 graduates, there are 44 jobs listed on the NSGC job board at the time of this writing, and about half of these are not listings for genetic counselor jobs. In part, this reflects the fact that companies are not using the NSGC job board as their one and only means of recruitment, but it is also, undeniably, an indication that there are not many open jobs right now.

In 2015, a Workforce Working Group (WFWG) was established comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD) and the National Society of Genetic Counselors (NSGC). The charges to the WFWG were as follows:

● Identify current and future barriers and opportunities that impact the growth of the CGC workforce.

● Make recommendations to and support the development of specific action items that will facilitate growth of the profession and minimize and/or remove barriers to expansion.

● Drive and coordinate the efforts of the professional genetic counseling organizations to ensure the action items recommended by the working group are carried out in the most efficient and effective manner possible.

The WFWG commissioned a consulting firm, Dobson DaVanzo & Associates, LLC, to conduct a workforce supply and demand projection study of certified genetic counselors in the US over the time period from 2017-2026. This report considered many factors as they attempted to project the future needs and factors that could complicate their estimations.

The report developed two models in which the projected need for genetic counselors was 1 per 100K or 1 per 75K population and they projected we would reach equilibrium for the 1 per 100K model by 2026. While the workforce study recommended expanding existing training programs and developing new programs, they warned, “activities around this initiative will be focused on accelerating growth, while being mindful of not overreaching and exceeding demand.”

The report also raised concern regarding a “substitution effect” which was defined as other healthcare providers providing genetic counseling to patients. Additionally, the Dobson DaVanzo report also cautioned, “policies that restrict reimbursement to direct patient care by certified genetic counselors who are not affiliated with a commercial laboratory would likely reduce the effective demand for care, while at the same time reducing the ability of providers to meet patient need.”

This workforce report provided guidance on the importance of cautious growth with the caveat that it was an uncertain and rapidly changing landscape. The current situation has left me questioning if our profession considered this report in full as we have grown our workforce?

We met the Dobson & DaVanzo report’s projection of ~6.5K certified genetic counselors in March of 2023, more than 3 years ahead of schedule, and we continue to have more genetic counselors graduating from training programs than ever before. It does not appear to me that we have been “mindful of not overreaching and exceeding demand.” Of the 55 programs listed on the ACGC website, 14 are designated “new accredited programs”, and there are an additional 6 applications for programs in the works.

The substitution effect was defined by Dobson & DaVanzo as non-genetic counselors doing genetic counselors’ work. For the most part, we have not seen nurse practitioners, physician’s assistants or other providers stepping in to do the work of genetic counselors. From my view, what we have seen is that we are increasingly substituting ourselves. Let me explain. The labs understand that to compete in this market, it is essential to package genetic counseling with genetic testing. I see the labs going to providers who are neither equipped to nor interested in doing the counseling themselves, and offering complimentary genetic counseling as a perk for those ordering their brand of testing. The problem is, in many cases, genetic counseling provided gratis by a laboratory is not comparable to what would have been provided by a non-lab-affiliated genetic counselor in a clinical setting. The patient may get a message through a portal that tells them they can schedule a genetic counseling appointment. They may talk with a genetic counselor by phone for a few minutes to review results. What they rarely receive in these encounters is the comprehensive genetic counseling care that was factored into this workforce study. At this point, many providers and patients believe that this test-bundled follow-up care is standard genetic counseling. And, used to getting it for free, many providers and healthcare systems are now unwilling to pay what it costs to have genetic counselors on staff.

As important as it is, our profession has largely ignored the issue of how we are paid. This not only affects our job prospects, it affects the level of care we are able to offer to our patients.

The genetic testing lab bubble that began around 2013 created jobs funded by easy access to business loans and venture capital. Labs could use their huge investor funds to pay nice salaries to genetic counselors even when their companies were losing millions (and in many cases, hundreds of millions of dollars a year). The workforce study was developed at the time of this bubble and did not take into account the possibility that this job creation was unsustainable. Now, the VC bubble is deflating. After a decade of sustained and significant losses, investors are no longer willing to keep these labs going without return on their investment. Borrowing money has also become increasingly expensive and difficult. As a result, we are seeing labs retrench, close or be absorbed by competitors, with resultant layoffs of genetic counselors. And with many in our field looking for work, we have yet to reckon with the fact that we still don’t have a viable and sustainable funding model for genetic counseling services – in large part because fair reimbursement is difficult to demand when some version of genetic counseling services have so often been given away for free.

Another bit of history, and one the WFWG could not have factored in, was a global pandemic. Undoubtedly COVID-19 disrupted healthcare in ways that affected genetic counselors. As to the big picture, I think one important issue connected to the pandemic has been some of the financial challenges faced by many industries. For example the interest rate hikes, which have been a tool used to try to curb inflation has made funding more expensive and difficult to secure. The timing of this is unfortunate given the recent position of the labs. However, this does not change the fact that growing a profession on the basis of borrowed funds and start-up investors put us in a precarious place even without the added financial challenges brought on by the pandemic.

What comes next?

Given all that has changed over the last decade, and because we are nearly at the end of the period that the Dobson DaVanzo study had projected, I hope the WFWG has plans for another workforce study. Our profession is in need of an updated analysis of workforce issues.

Until we find a way to fund genetic counseling positions that does not rely on the house of cards that is laboratory funding, we should be mindful that our program growth does not outstrip the job opportunities for our newest colleagues.

The rapid growth in training programs suggests that the institutions involved looked at the rosy growth projections and ignored the recommendation to proceed with caution. Between the challenging job market and the difficulty securing clinical training sites for students, I imagine many involved in training programs are alarmed. While we have added many training slots, the program I attended, at Brandeis University, closed at the end of 2022 because there weren’t enough clinical training sites to serve the number of enrolled students the school required to cover the costs of maintaining the program. More programs may soon be facing tough decisions like this. One program director I spoke with shared, “many programs do not receive any state funding which means they have to run completely on tuition dollars. Even one student difference can break a budget that relies on those tuition dollars and may result in a program closing.”

In addition to considering carefully the growth of our profession through the training programs it is imperative that we all continue to advocate for fair reimbursement. The work we do as genetic counselors is valuable and crucial to the ethical practice of genetic healthcare, now more than ever. And I expect the need will only grow from here. But, we risk not being able to be in these roles, providing care and expert guidance if we do not first ensure that we have sustainable reimbursement for our services. Every single one of us needs to advocate for the “The Access to Genetic Counselor Services Act” so that genetic counselors are recognized by Medicare and can be reimbursed for the services we provide. This is everything. Have you contacted your representative?

I also hope we can mobilize as a profession to advocate for comprehensive standards of care in our work as genetic counselors. We should reflect on the recent challenges and disruptions we have seen in the field and consider how we are defining the practice of genetic counseling. If we continue to allow the profit motives of the labs to push us to act more as genetic testing facilitators, we will have an increasingly difficult time sustaining our ability to provide comprehensive genetic counseling and support.

Lastly I would like to send a message to all of the new and soon to be graduates who do not yet have jobs secured. Please don’t lose hope. You are the future of our profession, and we need you to help move us and genetic services forward for the better.

*The original version of this article stated, “A report published in 2022 by the Accreditation Council for Genetic Counseling (ACGC) indicates that ~800 genetic counselors will complete their training at the 55 accredited training programs.” and referenced the following report: https://www.gceducation.org/wp-content/uploads/2023/06/ACGC_2022_AnnualReport.pdf This was changed to reflect data from the National Matching Services Inc statistics, which reported that 547 applicants matched with a GC program in 2022.

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by dnaexchangeguest | April 10, 2024 · 9:22 AM

The Myth of an Apolitical Workplace: Recognizing Politics as a Part of Genetic Counseling

A guest post by Ambreen Khan and Kimberly Zayhowski

Normative standards of professionalism dictate that a professional should remain apolitical, positing that separating personal beliefs from professional endeavors allows one to maintain objectivity. The enforcement of these standards is increasingly evident in genetic counseling spaces, such as with censorship in workplace meetings, on discussion forums and social media, and at conferences.

However, remaining apolitical grows complex given the politicization of everyone’s identities and personhood. The intertwining of personal, political, and professional realms is undeniable, often operating subconsciously. Operating in a makeshift bubble of neutrality disconnects us from the lived realities of our colleagues and the patients we strive to serve.

Eugenics underpinnings in genetic counseling

The roots of the genetic counseling profession are entangled with a history steeped in eugenics, a movement advocating for selective breeding to enhance the human population by using erroneous assumptions about genetics shaped primarily by social, political and personal biases of its supporters. Originating in the late 19th century, eugenics principles guided the atrocities committed during Nazi Germany’s reign, heavily shaped by American eugenicists like Charles Davenport and studies from the Eugenics Record Office at Cold Spring Harbor Laboratory. The historical justification of eugenics to forcibly sterilize, criminalize, and perpetrate genocide against minoritized communities has been rooted in the misappropriation of genetic and medical concepts. Therefore, dismissing the importance of politics in the field of genetics is a fallacy.

Genetic counseling’s origins can be traced back to the ethically fraught ideology of breeding out those considered less “desirable.” The justification for establishing and funding the first genetic counseling program suggested that genetic counseling serves as a strategy to mitigate hereditary diseases and encourage individuals to make informed decisions regarding reproduction, both for their own well-being and that of the broader population.

Despite the prevailing belief among genetic counselors that we are staunchly anti-eugenics, traces of eugenic ideology persist within certain aspects of our practice, aligning with broader political and power structures. This is exemplified by the recent NSGC Practice Guidelines suggesting the use of expanded carrier screenings as a means for downstream cost-savings through the prevention of births of individuals with certain genetic conditions.

Moreover, genetic counselors’ desire for absolute neutrality ties closely with the need to adopt a non-directive approach with patients, obscuring the intrinsically directive nature of everything said and done in patient interactions. This connection can be traced back to post-WWII geneticists’ efforts to distance themselves from eugenics, despite perpetuating comparable ideologies under the guise of neutrality. The norm to remain apolitical perpetuates self-censorship, impeding the field’s ability to openly confront its connections with eugenics.

The impossibility of neutrality

Acknowledging personal political beliefs becomes a crucial aspect of a genetic counselor’s professional journey and our interactions with colleagues. As Lewis Wallace, a transgender reporter, asserts in his piece titled “Objectivity Is Dead And I’m Okay With It,” neutrality is not real, particularly for people with marginalized identities who cannot remain neutral or centrist in debates concerning their own humanity. Hence, the structures demanding neutrality in the face of oppression must be challenged.

Numerous contemporary policies, such as those regarding immigration, disability and reproductive rights, racial justice, education, LGBTQIA+ rights, colonialism, imperialism, and more, directly impact how we show up in our professional lives. Policies can impede our capacity to pursue a career, such as when they impact visa status, restrict access to safe and inclusive work environments, or perpetuate discriminatory practices such as anti-transgender legislation.

The politicization of religious and ethnic identities to justify violence exposes individuals to bigotry, threatening their safety and sense of belonging. Politics can profoundly affect mental and physical well-being, as evidenced by US -funded genocide in Gaza and settler colonial violence in the occupied West Bank, leading to distress and safety concerns among Palestinian genetic counselors as well as allies that speak out against these atrocities. In such instances, neutrality serves oppressors, demanding marginalized individuals to suppress their emotions and well-being to conform to “professionalism” standards, which expect silence amid oppression.

The burden of representation and palatability

Standards of professionalism carry oppressive ideologies favoring white supremacy. Professionalism traditionally reflects the cultural norms, behaviors, and traits of the dominant social group, often represented by straight, cisgender, non-disabled white men in the broader field of medicine in the US, or women in genetic counseling. Consequently, professionalism tends to be assessed primarily among those who are racially minoritized, queer, gender-diverse, and disabled. An expectation of professionalism entails the ability to collaborate with others – even if those people say and do awful things. This creates an environment of dealing with microaggressions and discrimination quietly and laying low when witnessing bigoted conversations.

In navigating political dynamics, genetic counselors often encounter challenges with colleagues tied to respectability politics, a phenomenon where individuals from marginalized groups feel compelled to conform to mainstream expectations to gain social acceptance. Additionally, the pitfalls of “whataboutisms” arise, deflecting from the core issues at hand by pointing to separate problems or situations. This tactic often undermines meaningful discussions about systemic problems, diverting attention from the pressing need for change.

The pursuit of “palatability” within diversity, equity, and inclusion work can paradoxically prioritize the comfort of the oppressor over meaningful progress. Efforts to make conversations or initiatives more palatable risk diluting the urgency and discomfort inherent in addressing systemic issues. Individuals with minoritized identities often find themselves assuming the role of ambassadors for their communities. As they navigate professional spaces, they become de facto representatives, sharing the responsibility of dispelling stereotypes and fostering understanding. This burden is a consequence of existing in spaces where diversity is limited.

Integrating our personal, political, and professional selves

True progress in social justice work demands confronting challenging truths, dismantling entrenched power structures, and prioritizing the voices of marginalized communities over the comfort of those with privilege. Achieving this necessitates a deep understanding of one’s own privileges through an intersectional lens.

Without reflecting on the underlying reasons that necessitate our need to maintain objectivity while upholding the status quo, genetic counselors jeopardize their ability to engage in nuanced conversations with colleagues and patients. Staying engaged in global affairs is essential for genetic counselors to confront their personal biases and improve patient care.

Trusting ourselves and our colleagues to bring their authentic, political selves to professional spaces promotes meaningful dialogue and mutual understanding. The myth of apolitical neutrality acts as a barrier to recognizing the complexity of human experiences among colleagues and within ourselves. As we navigate the paradox of remaining apolitical in a world where identities are inherently political, genetic counselors must consistently question the root cause of their need for neutrality.

The opinions expressed in this article are solely our own and do not reflect the views and opinions of our employers.

Authors:

*Ambreen Khan, MS, CGC (she/her) works as a laboratory genetic counselor and a grassroots community organizer. A bilingual Muslim individual of Pakistani descent, Ambreen follows her passion of increasing access to equitable genetic services locally and globally, through educational talks, social media content, and research.

*Kimberly Zayhowski, MS, CGC (she/her) works as an assistant professor and research genetic counselor. A queer and multiracial individual, Kim is dedicated to advocating against oppression in genetic counseling research, education, and practice.

*Names in alphabetical order. These authors have contributed equally to this work.

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by dnaexchangeguest | December 13, 2023 · 3:27 PM

Guest Post: New year, new name?

by Misha Raskin

At the recent annual conference for the National Society of Genetic Counselors (NSGC) in Chicago, there was a spirited debate about whether or not to change the genetic counselor name. An alternate name was not presented, but below is a word cloud of proposed alternate names which DNA Exchange author Bob Resta shared in his recent blog post, where he decided to decline supporting a name change.

An informal poll that was circulated after the debate found that a significant percentage of genetic counselors were also wary of pursuing a name change.

For those who have not seen the debate, there were two primary tensions between the “pro change” side and the “pro same” side. The “pro change” side argued that changing our profession’s name could bolster NSGCs Justice, Equity, Diversity and Inclusion (J.E.D.I.) action plan (https://www.nsgc.org/JEDI), theorizing that possibly one of the reasons that genetic counseling is less diverse than many other professions is that our name creates a branding and recruitment problem. The “pro same” side brought up that if we genetic counselors change our name, then we’d need to update all of our state licenses, plus the language in our pending legislation to have Medicare recognize genetic counselors. Mr. Resta agreed that these issues were also an important factor to consider. The pro-same side also brought up that Physician Assistants are currently changing their name to Physician Associate, and that the associated cost of their name change is estimated at approximately $22 million, which would obviously be a staggering expenditure for an organization like NSGC.

Looking further at the “pro change” perspective, NSGC has rightly committed itself to implementing a successful J.E.D.I. Action Plan. Diverse teams provide better clinical care, better research, and build better businesses, all sectors where genetic counselors commonly contribute. Competing for diverse talent is in many ways the competition for the future. In a white paper published by the consultancy McKinsey in 2020, titled “Diversity Wins: How Inclusion Matters,” they outline the many ways that more gender and racially diverse organizations consistently outperform their less diverse competition, and argue for a greater focus on multivariate diversity (meaning “going beyond gender and ethnicity”). Currently, genetic counseling is among the least ethnically diverse fields in healthcare. We genetic counselors have an enormous amount to gain from a successful J.E.D.I. initiative. Over the long-term, perhaps far more than $22 million worth of benefit, if such a thing could be calculated. So, if strong evidence emerged that changing our name would substantially improve NSGCs odds of a successful J.E.D.I. program, then it’s prudent to consider this option with an open mind. We can’t just say that we’ll implement a J.E.D.I. program “unless it’s challenging or expensive,” right? If NSGCs J.E.D.I. initiative is a priority, then we should prioritize it. And maybe, there isn’t as much sacrifice as the “pro same” side implies.

Let’s also assess the state licensure argument more closely. There are lots of state licenses for all sorts of fields (see here and here for more info). Millions of people have state licenses all over the United States, including licenses for athletic trainers, auctioneers, and barbers, to name a few. So as a political matter, getting a state government to issue a professional license is often a manageable process. That’s why NSGC has approximately 35 state licenses. Importantly, a name change is drastically easier to navigate through a legislative body than a whole new license. Legislative bodies often use a “consent agenda” to take care of matters that are considered “technical and non-controversial.” It’s hard to imagine a piece of legislation that is more “technical and non-controversial” than changing the name on the genetic counselor license, as long as we don’t trigger a turf war by calling ourselves something like “doctor” or “geneticist.” In some states, we might even be able to get a name change done with volunteers, no lobbyists needed. And even in the states where we would need lobbyists and perhaps the consent agenda isn’t an option, this should not represent particularly expensive lobbying. If we genetic counselors decided to change our name, it would indeed require volunteer work to amend our state licenses, and it would have associated financial costs, but this is hardly an insurmountable hurdle – and one well worth jumping over to accomplish NSGCs Justice, Equity, Diversity, and Inclusion goals.

Next, let’s investigate the argument that a name change could hamper our efforts on Medicare recognition. Medicare is a massive and expensive federal program, and while there are different ways to calculate it, many legislators believe that recognizing a new provider, such as a genetic counselor, would represent a cost to a program that is already too expensive. So, unlike a state license, getting the United States Congress to recognize a new provider under Medicare is politically extremely difficult. In fact, after nearly two decades of effort, NSGC still hasn’t made any substantial progress on Medicare recognition, which in the context of this debate (and really only in the context of this debate), is actually a good thing. We haven’t even made it through the House or Senate. So, our lack of Medicare recognition at the present time argues in favor of exploring a name change, not the other way around, since our bill is still going through a process where amendments are common anyway.

To summarize, the benefits and costs of changing the genetic counselor title have not yet been fully flushed out. The debate at NSGC, while very thought provoking, was a starting-off point. We need to identify the best contender for an alternate name, and assess the benefits the alternate name is likely to generate. Perhaps the right name could both bolster the J.E.D.I. action plan and improve our prospects of gaining Medicare recognition, by better succinctly representing a genetic counselor’s value to the healthcare system. In parallel, we need to understand what the costs would be specifically for genetic counselors, as opposed to using Physician Assistants (I mean, Associates) as a proxy. PAs can already bill Medicare, have a different scope of practice, there are about 150 thousand of them in the United States, and there are likely many other differences. While their experience is of course informative, they are not a reasonable proxy. Once we have a better sense of what a name change would mean specifically for genetic counselors, then we can weigh the estimated benefits of the identified new name against the estimated costs. Importantly, when assessing the costs, we shouldn’t only ask lobbyists who expect to bill us for their services, as they have an obvious financial conflict of interest.

A successful J.E.D.I. program was always going to require substantial work, cost money, require new ideas, and require openness to meaningful change. Changing the genetic counselor name would indeed require NSGCs political operation to put in effort, but what is the point of having a political operation if we’re afraid to interface with the political system? If we can’t identify a new name that would propel NSGC’s J.E.D.I program, then it’s not worth the cost and effort. But I strongly support researching a new name further, and politically speaking, if we can’t handle a name change to a state license, then we can’t handle much of anything. And a name change may be easier than Mr. Resta’s charming idea that we convince George Clooney and a major network to launch a TV show about genetic counselors that’s as successful as the Sopranos.

There’s a lot of tricky questions that arise that aren’t touched on in this piece. A name change would need to be a slow and thoughtfully planned process – staffing, volunteers, timing, budgets, and not to mention the new name itself. There are likely other costs that haven’t been identified yet. We might not even like the new name, but remember, it’s not for the majority of current genetic counselors – it’s for the future of genetic counseling.

Misha Rashkin has been a genetic counselor for 10 years. He is a clinician and specializes in oncology. He has a longstanding interest in the ethical and legal issues of genetic testing, particularly the Genetic Information Non-discrimination Act (GINA).

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by Katie Stoll | September 26, 2022 · 5:02 PM

Unprofitable Genetic Testing Labs – The Size of the Loss, The Reasons for the Loss, and What It Means for Genetic Counseling and Genetic Counselors

By Katie Stoll, MS, Jessie Conta, MS, and Michael Astion, MD, PHD

Genetic counseling is a critical part of the genetic services process, beyond just coordination and ordering of a genetic test. However, as the genetic counseling profession has grown alongside the expansion of genetic testing, it has become increasingly intertwined with and dependent upon the financial success of commercial genetic testing laboratories. The relationship risks undervaluing genetic counseling and the breadth of the services genetic counselors provide.

The genetic testing industry has seen rapid growth over the past two decades, with many new companies and billions of dollars invested into start-up genetic testing labs. Despite the enthusiasm of venture capitalists and other investors, commercial genetic testing labs are largely unprofitable, and the losses are significant and sustained. This is shown in Tables 1 and 2 below which are derived from analyzing publicly available, quarterly and annual financial reports (10-Q and10-K Filings) of publicly traded companies whose primary business is clinical genetic/genomic testing.

As shown in the tables, it is common for publicly traded, genetic testing labs to report annual losses of >$100 million. In 2021, only one lab, Fulgent, made a profit (Table 1). However, Fulgent’s 2021 – 2022 quarterly reports (Table 2) indicate that profits aren’t attributable to genetic testing, but rather to COVID test sales, which accounted for ~88% of their 2021 revenue. Myriad has seen a consistent decline in revenue since the US Supreme Court’s ruling in 2013, which forbid human gene patenting and therefore caused Myriad to lose their lucrative BRCA testing monopoly. Although the losses have not been as severe as their competitors, Myriad has not been profitable since 2019, and they have reported greater losses in the first two quarters of 2022 than their annual loss in 2021.

Profit and loss data is difficult to obtain from private genetic testing companies such as Color Genomics, as well as from genetic testing labs owned by much larger, diversified companies, as is the case with Ambry being owned by Konica Minolta. Similarly, profit and loss data on genetic testing is unavailable from integrated health systems, academic medical centers, or publicly traded labs –like Quest, LabCorp, and BioReference— who only have a small portion of their overall testing business in genetics. In regards to academic labs and labs in integrated health systems, our experience, as well as discussions we have had with colleagues strongly suggest that genetic testing is performed at a financial loss, and that it is the overall profit of these full-service labs that allow them to support genetic testing.

Why aren’t genetic testing companies profitable?

Publicly traded genetic testing labs are unprofitable for a variety of reasons. The top reasons are poor reimbursement from insurance plans and patients; intense competition; and excessive expenses for sales, marketing, and executive compensation. In addition, the inclusion of genetic counseling, which companies have highly valued as part of their testing service, adds an expense that is not seen in the other analytic sections of a full-service clinical lab.

Insurance reimbursement

The service of genetic testing is a costly one to deliver and is much more expensive than a lab’s cost to perform other tests. For example, the fully loaded cost of performing a typical test in a highly automated, hospital-based core laboratory is in the range of $10-$20 per test. This includes common tests like complete blood counts, electrolytes, basic coagulation tests, thyroid screening tests, and liver function tests. For an insurance plan this type of common testing is >65% of their expenses. The cost to labs of genetic testing is much higher, often 10-100-fold higher. Genetic testing usually represents < 20% of an insurance plan’s spending on lab tests.

Why is genetic testing so costly to labs? The main reason is that it is difficult scale genetic testing in a manner analogous to common, high-volume laboratory tests. Compared to common tests, genetic testing is more labor-intensive, more time consuming, involves higher-wage staff, and involves technology that has a higher cost per test. Genetic testing is time consuming because it requires complex tasks not seen with common tests, such as variant analysis, curation, review, and updating. And for many companies, it also includes providing the genetic counseling service, which is often bundled into the service of providing the test. Overall, genetic testing is a personalized, complex technical service which has resisted, for now, the type of full automation that has benefited other parts of the clinical lab.

The high cost for performing genetic testing necessitates high costs to patients and their insurance companies. Historically, insurance companies are mediocre at regulating high-volume, low-cost lab tests because it is too cumbersome and expensive to manage. However, insurance companies have many effective tools for regulating high-cost procedures, including genetic tests. The result is that high-volume, low-cost laboratory tests have a relatively open door to reasonable insurance payments, and insurers invest only a little energy toward closing that door. In the case of genetic testing, the door is closed or only partially open.

Besides negotiating fees with certain labs, the main method that insurance plans use to control genetic test reimbursement is detailed medical necessity policies tied to preauthorization systems. Insurance companies either develop the policies and pre-auth systems or purchase them from third-party benefits managers. Overall, the method involves using software that aids decision making in combination with genetic counselors, nurses, and physicians who adjudicate cases at various decision levels. This approach is then married to an insurance plan’s usual and customary procedures for handling grievances from patients and labs that have been denied payment. For insurance plans, this type of complex system, which is both software and labor intensive, would have a poor return on investment if applied to low-cost, high volume lab tests. But for genetic testing, this type of system has an excellent return on investment, and so insurers are highly motivated to regulate genetic testing. In addition, these insurance systems tend to be overly tuned to block fraud, waste and abuse, and often delayed in keeping up with scientific evidence. Therefore, insurance systems may block some medically necessary genetic testing.

Patients bear high out-of-pocket costs for genetic testing. This is because they are financially liable when their insurers do not cover the test, and, even when insurers provide coverage, there still can be high deductibles or co-pays. In the laboratory industry, it is very expensive to recover the money that the patient owes, and poor financial recoveries from patients is common. This failure to recover the patient portion of the bill adversely affects the bottom line of genetic testing labs.

Response to poor reimbursement from insurers and patients

Many labs performing genetic testing have responded to preauthorization requirements by investing in resources – which sometimes can create an entire division or department – that provide support with prior-authorizations, as well as appeals and support when test coverage is denied. This can help grow the testing business because it removes a barrier that blocks some providers from ordering testing. However, the removal of the barrier comes at a high cost to the genetic testing lab.

To help patients directly, some labs have promised patients low out-of-pocket costs either through reducing the patient’s responsibility under their insurance plan, or by promoting self-pay options that avoids involving the insurance plan. Thus, some labs promise patient out-of-pocket maximums, typically advertised as about $100 when insurance does not cover testing.

For self-pay options that do not involve insurance, the price for genetic testing for patients is often much lower than the list price available to care providers, and it is highly likely that price does not cover the costs of the tests. The current going rate at most labs for self-pay testing for multigene panels is around $250, which is usually much less than what labs try to collect from payers, including Medicare and Medicaid for the same test.

Sales and Marketing

A review of publicly available, 10-K submissions, show that it is not unusual for genetic testing companies to have marketing and sales budgets around 40-50% or more of revenue, which is much higher than typically seen in established, full service clinical laboratories. This most likely relates to the goal of growing revenue and capturing market share, despite the high cost of achieving this in a competitive, and poorly reimbursed business. Those NSGC parties, sponsored luncheon and dinner events, “free” CEU opportunities, and even the complementary genetic counseling, all come at a cost for the marketing and sales budgets of these companies.

Executive compensation

Another contributor to financial losses in publicly traded genetic testing labs is the high pay of executive leadership, including chief executives. Review of executive compensation data shows that executive pay is often inversely correlated with net profits – the longer that a company lasts, regardless of how deep the losses grow, executives tend to be well rewarded. For example, Natera reported compensation for the company’s chief executives totaling $8 million while company losses totaled $128 million in 2018. Contrast this to 2021, when Natera’s C-Suite compensation was > $53 million despite company losses that were > $471 million.

Although these companies are not generating operating profits, their investors aren’t necessarily hurting as a result. Stock prices for boutique, genetic testing labs don’t often sync with the lab’s financial health, and based on reported trading of company insiders, some investors are gaining significant wealth despite the losses of these labs. For example, Invitae hit all time stock highs in December 2020 despite enormous losses reported in every quarter that year. The net loss for Invitae in 2020 was >$600 million, while that same year Invitae insiders cashed out more > $46 million in stock. Another example is that the current CEO of Natera cashed in nearly $76 million in stock over the past four years, while cumulative losses for Natera totaled >$ 1 billion over that same period.

What is at stake for genetic counseling?

A 2018 publication in the Journal of Genetic Counseling analyzed the financial challenges of commercial genetic testing labs and what that could mean for genetic counselors. The authors speculated that genetic testing companies may not find a path to profitability, and their ability to support genetic counseling services may subsequently decrease.

Since this initial analysis, the losses of these companies have continued to grow, and investors have become less enthusiastic. This has put pressure on many companies to change and adjust their business strategy in order to survive. For some, this means cost cutting measures to decrease their cash burn with hopes to increase the odds of profitability. And as predicted, difficult decisions are taking place with many genetic testing companies resulting in layoffs of staff, including genetic counselors. Last month, Invitae announced layoffs of over 1,000 staff, including most of their clinical genetic counselors. SEMA4 and Ambry Genetics have also had layoffs in recent months. Given the overall picture of the financial health of all these labs, and increasing challenges in raising funds, it is likely there will be more layoffs to come for genetic counselors and others who work at these companies.

What does the current financial state of genetic testing laboratories mean for the delivery of genetic services and for the genetic counseling profession? A substantial portion of genetic counseling is now delivered through genetic testing laboratories who have packaged genetic testing with the offer of genetic counseling to draw in clients. If we see fewer companies maintaining genetic counselors on their staff, where will genetic counseling support come from for these patients? In addition to the labs themselves, many of the growing genetic counseling telehealth companies are closely tied to the testing laboratories, with much of their funding and contracts coming through commercial laboratories rather than direct patient referrals or contracts with clinics. It seems possible that these arrangements could also be negatively affected with current financial pressures and cuts to “extra” costs. Genetic counseling is not an “extra” bonus service, but rather a critical part of the genetic services process. Relying on genetic testing companies’ funding to ensure access to this service does not appear to be a sustainable model.

For genetic counseling services to be sustained, independent of the financial health of corporate testing laboratories, it is essential that genetic counseling be recognized and reimbursed as an independent service, with inherent value that is separate from genetic testing. Recognition by the Centers for Medicare and Medicaid Services is a necessary step towards sustainable and independent genetic counseling services, regardless of service delivery modality. I hope you all will join in continued advocacy to see the Access to Genetic Counselor Services Act H.R. 2144 / S. 1450 enacted into law.

Michael L. Astion is a clinical pathologist who is Medical Director, Department of Laboratories at Seattle Children’s Hospital and Clinical Professor of Laboratory Medicine at the University of Washington. For almost two decades he worked at the University of Washington, Department of Laboratory Medicine where he was a Professor and Director of Reference Laboratory Services. His career is divided between clinical service, teaching, clinical service, and research and development. He is the editor-in-chief of Patient Safety Focus, which appears quarterly within AACCs Clinical Laboratory News. He is one of the founders of PLUGS (Patient-centered Laboratory Utilization Guidance Services), a national collaboration whose mission is to improve test ordering, retrieval, interpretation and reimbursement. Dr. Astion is a frequent speaker at professional meetings, where he lectures on issues related to laboratory test utilization; test interpretation; laboratory economics and outreach; and medical errors.

Jessie Conta is a licensed genetic counselor in the Department of Laboratories at Seattle Children’s Hospital. She received her Master of Science degree in genetic counseling from Brandeis University. As the Manager of the Laboratory Stewardship Program at Seattle Children’s, she leads genetic test stewardship interventions, including insurance alignment related to genetic testing. Jessie is also a co-founder and Director of Genetic Counseling Services for PLUGS (Patient-centered Laboratory Utilization Guidance Services), a national collaboration whose mission is to improve test ordering, retrieval, interpretation and reimbursement.

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by laurahercher | July 28, 2022 · 7:47 AM

NSGC Board: With Roe Overturned, and Over a Decade Without Medicare Recognition, It’s Time For Change

A Guest Post by Misha Rashkin et al

The Supreme Court’s recent decision to overturn Roe v. Wade is an historic event, and in many ways genetic counselors are in the eye of the storm. The National Society of Genetic Counselors (NSGC) has historically remained silent on the issue of reproductive rights, citing Medicare recognition as a bipartisan issue that supersedes patients’ reproductive freedom. Though the threat of losing Roe has been clear since Brett Kavanaugh joined the Supreme Court, and all but inevitable after Justice Coney Barrett took the oath, NSGC leadership has continued to focus solely on Medicare reimbursement. After more than a decade of following this strategy, NSGC is nowhere near getting our bill passed, and now patients are losing fundamental rights. It’s time for change.

What is Next for Genetic Counselors?

Going forward, there will be laws proposed in many states that could regulate what genetic counselors can document or say to their patients.
To enact change, NSGC leadership will need to get involved in many legislative, legal, and electoral efforts.
Electoral efforts will need to focus on local elected officials like District Attorneys offices, ballot measures, and state constitutional amendments.

Bottom line: It is not acceptable for NSGCs political operation to remain silent on reproductive choice. We must act on issues that impact our professional lives and the wellbeing of our patients. To remain silent is to capitulate.

What about our bill to be recognized by Medicare?

Based on public records, NSGCs efforts to have Congress recognize genetic counselors as Medicare providers has been ongoing since 2007, longer than many counselors’ careers.
Our bill has been introduced three times as HR 7083 in 2018, HR 3235 in 2019, and HR 2144 in 2021, and has yet to be considered by a single committee in Congress.
While progress has been minimal, costs have ballooned 450% over 10 years, from $80,000 per year to $360,000 per year!

Bottom line: Sacrificing our commitment to patient autonomy and agency is a grave ethical error for an industry that prioritizes these values. Sticking with the status quo is a failure of the leadership’s ethical and fiduciary responsibility. Board members are required to accept their fiduciary responsibility for NSGC the same as they would for their own personal finances.

What Can NSGC Do To Repair the Damage?

The NSGC Board should put out a Request For Proposals (RFP) requesting bids from new lobbying firms every few years, beginning now. This is standard practice for nonprofit organizations. Smith Bucklin has not been held accountable for their lack of progress.
RFPs should include lobbyists who have worked to get mid-level providers recognition.
This process should be transparent and prioritize bids from political operatives who have:
- Experience working with our targeted committees (Energy & Commerce, and Ways & Means in the US House) to move our legislation forward.
- Experience working on reproductive freedom at the state and federal level.

Bottom Line: The Board should create a process where an RFP is put out at some regular cadence, such as every three years. It’s time to hold our Director of Government Relations and lobbyists accountable. If you agree, please sign this petition to register your support for accountability, transparency and change.

[alphabetical order]

Barbara Biesecker, PhD, MS, CGC

1989-1990 NSGC President

Jordan Brown MA, MS, CGC

2022 Chair, NSGC Public Policy Committee

Member, NSGC Reproductive Freedom, Access, and Justice Task Force

Founding Member, Genuine Collective

Elizabeth Fieg, MS, CGC

2020-2022, Public Policy Committee Member

Michelle Fox, MS, CGC

2020-2021, NSGC Director at Large

2008 Chair, Jane Engelberg Memorial Fellowship

Shreshtha Garg, MS, CGC
2020-2021 Chair, Equity and Inclusion Implementation Committee

Carrie Haverty, MS, CGC

2022 Chair, NSGC Membership Committee

Brianne Kirkpatrick, MS, CGC

204-2017, NSGC Public Policy Committee Member

Shelby Koenig, MS, CGC

Member, NSGC Reproductive Freedom, Access, and Justice Task Force

Megan Mckenna, MS, CGC

NSGC Member since 2020

Kristen Miller, MGC, CGC

2022 Senior Co-Chair, NSGC Prenatal SIG

Ana Morales, MS, CGC

2016-2020, ABGC Board of Directors (President, 2019)

2022, NSGC Expert Media Panel

2022, NSGC Practice Guidelines Committee Member

Shivani Nazareth, MS, CGC

2020-2021, NSGC Director at Large

2021-2022, NSGC Reproductive Freedom, Access and Justice Task Force Member

2013-2016, Public Policy Committee Member

Kate Partynski Emery, MS, CGC

NSGC Member Since 2015

Aarti Ramdaney, MS, CGC

2019-2021, NSGC Prenatal SIG Co-Chair

Misha Rashkin, MS, CGC

2018 Chair, NSGC Public Policy Committee

Hillary Rieger, MA, MS, CGC

NSGC JEDI Task Force, 2021-22

Sally A. Rodríguez, ScM, CGC

2021-2023, NSGC Membership Committee Member

2021-2023, NSGC Justice, Equity, Diversity, & Inclusion (J.E.D.I.) Committee Member

Katie Sagaser, MS, LCGC

2020-2022 NSGC Public Policy Committee Member

2019-2020 NSGC Prenatal SIG Co-Chair

Founding Member, GENUINE Collective

Kendra Schaa, ScM, CGC

2020-2021, Chair, NSGC Access & Service Delivery Committee

2017-2020, Member, NSGC Access & Service Delivery Committee

Heather Shappell, MS, CGC

2020-2021, NSGC Director at Large

Ashley Svenson, MS, CGC

2021-2022, NSGC Reproductive Freedom, Access, and Justice Task Force Member

Elizabeth Varga, MS, CGC

2018-2019 NSGC Director at Large

2016-2017 Co-chair, Pediatric Subcommittee, Cancer SIG

2014 Chair, Nominating Committee, American Board of Genetic Counseling

Chelsea Wagner, MS, CGC

2022-Present, Prenatal SIG Co-Chair

2022-Present, NSGC Abstract Review Committee

2019-2021, NSGC Marketing and Communications Working Group

2017-2020, NSGC Membership Committee

Kate L Wilson, MS CGC

2014 Chair, NSGC Access and Service Delivery Committee

2018 Chair, NSGC Education Committee

2012 Chair, NSGC Prenatal SIG

2017 Chair, NSGC Laboratory/Industry SIG

Beth Wood Denne, MS, CGC

2019 NSGC Cares Task Force

2011 Chair, Annual Education Conference

2013-2016, ABGC Board of Directors (President, 2016)

10 Comments

Filed under Guest Blogger

Tagged as NSGC, professional issues, Reproductive rights

by Katie Stoll | October 12, 2021 · 2:44 PM

An offer too good to be true? Might be a kickback.

Consider this imaginary scenario from three perspectives:

#1 You are an administrator for a large healthcare system in your community that is facing a greater demand for mental health services than ever before. Qualified mental healthcare providers are in high demand leading to psychiatrists and counselors demanding higher wages; yet reimbursement from Medicare and Medicaid haven’t kept up.

A well-known pharmaceutical company approaches you with a new program which includes a computer program that will interface directly with the healthcare system’s electronic medical record. This program has a suite of tools that will provide patient education, screen patients for depression and other mental health concerns and can make recommendations for treatment based on chatbots and pre-programmed algorithms. The program also allows for ease of ordering and delivery of medications, directly to the patients that are identified as possibly benefiting them. The system will check insurance benefits, handle billing, and provide education to the patient making the whole process seamless and burden-free for your clinical staff and providers. And the pharmaceutical company will provide direct access to mental health counselors and psychiatrists to take care of your patients when there are needs beyond what the chatbot and videos can provide. This is all offered to your healthcare system free of charge. This is a departure from how mental health services have been offered previously within in your healthcare system, however you are convinced that this program it would increase access to care that is desperately needed and greatly benefit your budget as well.

#2 You are a psychiatrist that has worked in a community health practice for many years. The work is taxing and not well supported. When you were recruited by a pharmaceutical company it felt like an easy choice. The pay that was offered was nearly double what you were paid when working for community health and the perks, benefits and hours allow for a much-improved work-life balance. And with so many tools for efficiency and support, you believed that more patients would be reached in the system through access to medications than you could have ever reached through traditional clinical care.

#3 You work in business development for a pharmaceutical company. Integrating into healthcare systems with tools to boost clinic efficiency and support health care providers like free electronic mental health screening questionnaires and algorithms for treatment recommendations means that more patients will be reached, and more prescriptions will be sold. Direct access to patient information input into company tools, such as the questionnaires, as well as control over the tools and their internal algorithms mean that the company can engineer the tools to make recommendations for prescribers that will garner the highest payment from insurance payers. This direct access is solid gold in the pharmaceutical business. The salaries of psychiatrists and mental health professionals are easily paid for by a fraction of the increased revenues in prescription sales. And the opportunity to have psychiatrists and mental health counselors on the pharmaceutical company staff, to interact directly with healthcare system providers and staff as well as patients has shown to be a powerful sales tool that gives healthcare systems the confidence to utilize the company’s platform.

Could this scenario happen? If so, is there a problem with it?

Let’s first consider the positives:

Improved patient access for a needed service.
Earning potential for expert healthcare providers.
Pharmaceutical company is making a healthy profit (as a successful business should)

And the negatives?

The pharmaceutical company is essentially monopolizing prescribing for the healthcare system.
In the interest of profits, the pharmaceutical company is incentivized to influence prescribing to maximize reimbursement.
Excessive prescribing practices may result, that are not necessarily in the best interest of the patient and may incur great costs for the payers and broader health system.
The healthcare system is allowing sensitive patient information to be shared with the pharmaceutical company which may also raise patient privacy and data sharing concerns.

Such a scenario is ethically murky and likely would be problematic given state and federal anti-kickback statutes. While patient access to services may be increased, there is a risk that the profit interests of the pharmaceutical company would be prioritized over the best interests of the patients and the healthcare system.

The anti-kickback laws are intent-based, criminal statutes that prohibit intentional remuneration, whether monetary or in-kind, in exchange for referrals or other Federally funded health care program business.

From the Office of the Inspector General (OIG): The types of remuneration covered specifically include, without limitation, kickbacks, bribes, and rebates, whether made directly or indirectly, overtly or covertly, in cash or in kind. In addition, prohibited conduct includes not only the payment of remuneration intended to induce or reward referrals of patients but also the payment of remuneration intended to induce or reward the purchasing, leasing, or ordering of, or arranging for or recommending the purchasing, leasing, or ordering of, any good, facility, service, or item reimbursable by any Federal health care program.

Further the OIG states that remuneration to encourage referrals in health care can lead to:

Overutilization
Increased program costs
Corruption of medical decision making
Patient steering
Unfair competition

The above imaginary scenario could be especially problematic given the involvement of healthcare providers, psychiatrists and mental health counselors. The practice of using physicians or other health care professionals involved in direct marketing activities has been termed, “white coat” marketing. See OIG Advisory Opinion No. 11-08: “White coat marketing is closely scrutinized under the anti-kickback statute because physicians and other healthcare professionals are in an exceptional position of public trust and thus may exert undue influence when recommending health care-related items or services…Given the nature of these relationships, when physicians or other health care professionals market items and services to their patients, patients may have difficulty distinguishing between professional medical advice and a commercial sales pitch.”

How does this connect to genetic counseling?

Currently, throughout the United States, genetic testing laboratories are approaching physician clinics, hospitals, and healthcare systems with proposals to help streamline genetic services. These laboratories promise a bi-directional interface with the local EMR to ease test ordering and reporting. They provide screening tools to identify patients who meet clinical guidelines for genetic testing and videos to provide information to support pretest consent. They provide insurance authorization and billing follow-up. And they provide genetic counseling support to patients who use their tests. Furthermore, the labs are often making big claims about the potential for downstream revenue that could be generated from more genetic testing in the system in terms of imaging, risk reducing surgeries, procedures, etc. that may be recommended once high-risk patients are identified.

Could any of these complementary services, in exchange for genetic test orders, be considered an illegal kickback or remuneration? Could the complementary genetic counseling services provided to patients be considered “white-coat” marketing?

The answer to that question may depend on if there can be a monetary value assigned to provision of genetic counseling services. And, since genetic counselors aren’t recognized under federal CMS as reimbursable, it is possible that there is no clear assignable value for genetic counseling services that would be considered a remuneration by CMS.

Genetic counselors are often leaving clinical positions for higher paying positions with industry, and healthcare organizations are finding it increasingly difficult to maintain their own locally hired staff. This taken with the fact that healthcare systems have difficulty getting reimbursed for independent genetic counselors who are on staff with their organization, offers of complementary lab-provided genetic counseling bundled up with ease in test ordering are appealing. Labs see marketing by genetic counselors as a powerful sales tool to increase genetic test orders and offer genetic counselors attractive positions in terms of pay and other benefits. And then labs make deals with hospitals, clinics, and healthcare organizations to offer full service genetic healthcare solutions by labs that want to be the one stop shop. With companies that have an interest in selling more and more tests, and healthcare systems having a hard time retaining genetic counselors or getting reimbursed for their services, we will likely see automated processes constructed by the labs to make recommendations about test orders.

I believe genetic counselors can offer excellent services regardless of who employs them. I know that many lab-employed genetic counselors are working hard and taking great care of their patients. And I believe that the tools that the companies provide do have the potential to expand access to genetic testing. What worries me though is that this expansion of testing may not ultimately be what is best for patients and will cost the healthcare system (and thus all of us) greatly. As this landscape continue to shift, with genetic counseling being offered as an incentive to promote test orders of specific test brands, the practice of independent genetic counseling services as we have known them may soon vanish. Our ability to provide unbiased counseling that allows patients to make informed choices about what is best for them (which may not always be a genetic test) and our ability to select that best test, regardless of testing laboratory, will be a thing of the past.

Legislation has been introduced that would allow for genetic counselors to be reimbursed by Medicare, Access to Genetic Counselor Services Act of 2021 H.R. 2144 and S.1450. Medicare recognition of the genetic counseling profession is crucial to ensuring access to independent services. Please consider contacting your representatives and senators to voice your support of these important bills. Learn more here.

The GC Crucible: the pressures on modern genetic counselors open the doors to opportunity

A Guest Post By Brianne Kirkpatrick

In a chemistry lab, a ceramic crucible held over an open flame melds disparate materials into a single, new, cohesive thing. Indestructible, it stands up to the heat and pressure. When used in metaphor, it’s a severe test or tribulation that leads to transformation. What comes out of a metaphorical crucible is the true character brought about by the need to adapt and change in a new environment.

If there is one thing I can get behind, it’s a belief that our job as genetic counselors is getting

harder. We work in a cauldron of new pressures and new challenges, ones that are causing us to adapt and discover what is at the core of our profession and what make us strong and unique, as individuals and as a cohesive group. We’re in a crucible right now, and that Bunsen burner is cranked up high.

Our clinical challenge is that the more we learn about genetics, the more complexity we discover (see item two in Laura Hercher’s top ten stories list for 2015 ). More information makes our job harder, even as it provides new hope for our patients. Similarly, the challenges of discovery and complexity that complicate our lives also provide new opportunities for genetic counselors.

How do we capitalize on those opportunities? Here are three suggestions:

Rally around the development of the Genetic Counseling Assistant vocation. The NSGC funded a grant to study this, and there have been discussions about this at recent meetings and on various listservs. GCAs job are available, and individuals are employed as GCAs around the country already, in laboratory and clinical settings. Like a para-legal to a lawyer, GCAs master administrative tasks and carry the burden of extra work that often sidelines the genetic counselor or reduces his or her efficiency – phone calls, paper work, records requests, insurance pre-certifications, initial intakes, and the like. The only way we are going to keep up with the demand for GC services is to increase efficiency for ourselves and free up genetic counselors from work that impedes their ability to serve all who need and are seeking their services.

Evolve or die. We as a profession must figure out how the future of genomics will include us. To do this we must immerse ourselves in current issues – in the clinic, in the research world, in the spheres of business and government – and then speak up when the genetic counselor voice must be heard. Get involved in your state’s genetic counselors’ group (consider founding one if it doesn’t exist). Volunteer in groups and for projects of the National Society of Genetic Counselors. Develop a professional social media presence. I chose to involve myself in the NSGC Public Policy Committee, believing strongly that taking a stand on issues of policy that affect us as genetic counselors allows us to determine our profession’s destiny, not others. Every committee and special interest group and task force of the NSGC contributes important work to the genetic counseling profession, but none of that work happens unless individuals decide to take that step and get involved.

Embrace the expansion of our professional opportunities, despite the shortage of genetic counselors to fill existing clinical and laboratory roles. GC’s are finding opportunities to do something new and different, which is fitting for a group who collectively are thinkers outside of boxes. For as long as the profession has existed, GCs have used creativity, ingenuity and chutzpah, trailblazing new roles out of necessity. In every city and in every specialty area, there was a “first” GC there. If you have been contemplating blazing your own trail, now might be a good time to test out the waters, to find your niche and try something you’ve been dreaming of.

There are role models for those looking for them, as GCs excel at identifying needs and making connections. We’re problem-solvers and sleuths, and we’re a resourceful bunch. From this, we have seen Bonnie Liebers develop Genetic Counseling Services, which creates specialized teams of genetic counselors for growing businesses who need them, utilizing a world-wide network of CGCs. A group of GCs recently published an article in the Journal of Genetic Counseling sharing their experiences working for startup companies. I recently launched my own solo venture, WatershedDNA, to provide consultations on ancestry and other home DNA tests, both privately and as a part of larger projects or for companies. The niche I found was filling a need for genetic genealogists, adult adoptees, the donor-conceived community and others, all of them looking for someone who understood the psycho-social dimensions and the science behind genetic testing for ancestry and ethnicity. A perfect role for a genetic counselor, and a match for my own natural interests and passion.

Currently, I work one-on-one with clients referred to me by the genetic genealogy community, mostly individuals who have already pursued a home DNA test or are considering it. Just as in a clinical setting, we begin with family history when available and identify a client’s goals and areas of concern. We review any results they already have and discuss additional testing options, and how they might affect them and family members, now and in the future. Working fee for service and owning my own business come with financial uncertainty and lots of unknowns, but it gives me other freedoms, including flexibility and the sense of adventure that comes with pursuing an entrepreneurial path (like my father and grandfather – genetics?). It isn’t easy; I’m a worrier by nature, and some days that Bunsen feels like it’s a-burnin’ hotter than usual. But like the genetic counseling profession as a whole, I’ve found myself in the midst of a crucible that isn’t trying to destroy me; it is providing me an opportunity. A chance to change and create, to extend the reach of genetic counselors. It will engender a future of great things, if I allow it.

Let’s be willing to face the uncertainty that the wild west of genetics brings, be daring, and embrace the shades of gray as we blaze new trails. None of us chose the profession of genetic counseling because we thought it would be easy.

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Filed under Guest Blogger

Tagged as Brianne Kirkpatrick, crucible, Genetic counseling, genetic counseling assistant, genetic genealogy, NSGC, professional issues, WatershedDNA

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