Author Archives: Allie Janson Hazell

Guest Post: Starting a discussion on severity and the merits of carrier screening

By Gabriel Lazarin, MS, CGC

Gabriel is the Director of Genetic Counselors at Counsyl, a laboratory that offers expanded carrier screening.

Discussions about carrier screening inevitably center around disease severity. Is the disease severe enough that it is worth offering screening? Who defines severity and then who decides whether that category of disease severity merits population screening?

These questions are easily recognized, but subjectively answered. Both sides of a complicated equation must be balanced. Physicians and public health officials desire screening protocols that address pressing medical concerns knowing that any screening program comes with costs, financial and otherwise. Parents-to-be have an interest in knowing what daily challenges they may face. Unsurprisingly, these sometimes competing interests result in conflicting perspectives on disease severity.

The focus on severity has increased as carrier screening panels have expanded the list of potential diseases for which a person may be screened. Despite the lack of consensus on definition of the word, severity is nonetheless cited in literature and referenced in conversations about carrier screening. In the ACMG’s statement on expanded carrier screening, the first criterion for consideration is, “Disorders should be of a nature that most at-risk patients and their partners identified in the screening program would consider having prenatal diagnosis…” Setting aside for the moment the stipulation that prenatal diagnosis should be considered (I, and many prenatal GCs, have many times encountered the patient that changes decisions once a hypothetical scenario becomes real), a paraphrase is that a disease should be severe enough so as to be “worth” screening.

The ACMG statement references severity again, saying, “The inclusion of disorders…associated with a mild phenotype should be optional…” A physician offering the test (and the laboratory supplying it) can reasonably question which specific disorders have a “mild” phenotype. Is hearing loss a mild phenotype, and who has the authority to make that decision? The recent joint statement on expanded carrier screening notably excludes commentary on severity, which further highlights the difficulties of its use in panel design. 

In December, PLoS ONE published a study conducted by myself and others at Counsyl that is a first attempt at defining severity. ACMG provided the backbone of this approach: severity was one characteristic assessed when developing a universal newborn screening panel recommendation. Nearly 300 people participated in this significant endeavor, including at least 3 experts for every disease. While successful, replicating that process — laboratories have been updating their screening panels at least once a year — is prohibitively labor-intensive. We aimed for a process that was easily replicated and did not require convening experts of rare diseases.

Our results validate an algorithm that incorporates easily identifiable characteristics such as shortened lifespan or sensory impairment, and places that disease into one of four categories (also derived from ACMG): mild, moderate, severe, and profound. This avails the following advantages: more consistency among laboratories for selection and presentation of screening panels, and a common vocabulary among providers for describing diseases (like the singular language offered by a tumor staging system). Furthermore, the survey was completed in just under 6 minutes on average, making it much more practical for frequent use.

The study population included GCs and physicians, the majority working in reproductive settings. We intentionally did not attempt to identify experts on the diseases surveyed. Instead, commonly known diseases (e.g., cystic fibrosis) and lesser-known diseases (Bardet-Biedl syndrome) were concurrently assessed. All were evaluated in a consistent manner, indicating that familiarity does not affect severity categorization. In addition, the algorithm is completed by identification of disease characteristics not disease names. Even if an evaluator was not familiar with homocystinuria per se, she would certainly understand a list of its characteristics, such as intellectual disability and shortened life expectancy.

So, what’s next? A status check on current expanded screening offerings seems reasonable – Counsyl GCs applied the algorithm to 63 diseases that are common to three commonly-used commercial panels and determined that 25 have profound severity (e.g., Herlitz junctional epidermolysis bullosa, Tay-Sachs disease and metachromatic leukodystrophy) and 38 are severe (cystic fibrosis, ataxia telangiectasia, primary hyperoxaluria). All being in the two most impactful categories, many providers would likely agree on their inclusions.

However, another reasonable next step is to identify and reconcile differences that might be discovered by surveying the reproductive-age patient population. We, the medical community, also need to determine the desired aims of a screening program and apply those aims with consistency and objectivity. It could very well be that expectant parents and obstetricians agree with the ACMG’s statement that interest in prenatal diagnosis should be an influencing factor in a screening panel (what patients want has historically been an absent consideration in constructing guidelines).

But what about those who are not yet pregnant? Without the pressures of pregnancy, is it reasonable to allow the opportunity to consider a wider range of diseases? Obstetricians and GCs are more accepting of pre-pregnancy expanded screening. In pregnant women, decision-making can be influenced by interests in reducing stress and delaying information until after birth in order to reduce anxiety. A carrier screening protocol should serve the interests of pregnant and non-pregnant women, perhaps utilizing different severity thresholds for each scenario.

Through this study and blog post, I hope to open the conversation about what diseases should be screened, who should be screened for them and when that screening should happen. Without a standardized, objective vernacular, these discussions are colored by personal beliefs (which may not align with patient beliefs) and assumptive interpretations of important criteria. This is but a first step that needs to involve all stakeholders – providers, patients and professional societies. By first developing this standard language, we can begin this important discussion.


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Questioning the “genetic counselor” professional title

A few weeks ago, while listening to a presentation at the Canadian Association of Genetic Counsellor’s (CAGC) Annual Education Conference in Vancouver, I learned that a newly created genetic counseling clinic had decided to remove the term “genetic counseling” from their clinic name. The term seemed to be confusing potential clients, and it was ultimately determined to be a barrier to getting people in the door.

Just two days earlier, I had sat in a room with the CAGC board of directors while we undertook a brainstorming exercise to try and come up with a simple and straightforward definition of “genetic counselor.” Led by a local PR & communications professional, our goal was to try and get the definition to less than 10 words. After 3 hours of lively discussion and long contemplative silences, we decided we had done the best we could do: our sentence was 17 words long. It was interesting to watch the response of the communications professional throughout the process. Clearly she has hosted similar sessions with countless organizations, but I sensed our challenge was unique. “You really do have quite a dilemma here, don’t you?” she noted more than once.

Communicators with a communication problem

Genetic counseling isn’t simple and genetics isn’t straightforward. Unfortunately, we live in a society that seems hell-bent on fitting genetics and genetic testing into a nice, neat, easy-to-handle box. As a result, we expend a lot of energy trying to describe why genetics is rarely nice, neat and easy-to-handle. We explain ad nauseam how complex, intricate and emotionally and ethically charged genetics can be. So, how do you simplify a message, when the message itself is intended to express the complexity and complicated nature of the subject?

As the chair of the CAGC Media and Communications committee, I have spent the past two years contemplating this question. The irony is not lost on me: communication is one of the most fundamental skills of our profession. We are highly trained to translate complex scientific information into manageable lay-mans terms. Yet, we continue to struggle to effectively communicate who we are to the public and other healthcare providers.

Which brings me back to what we call ourselves: Genetic Counselors. Our name is our first impression, our lasting brand and its descriptive nature should easily and accurately reflect the work that we do. As Sean Hazell argued in his recent guest post, the time is right to make a push for increasing our professional awareness. Given the huge communications challenge we have at hand, I think it is crucial we ensure our name is helping our cause, or at the very least, not hindering it.

As is highlighted by this recent tweet by a genetic counseling student researching GC awareness for her thesis project, it appears we certainly have a lot of work to do:

Screen shot 2014-12-16 at 10.01.21 PM

The name game

I’m sure we have all had the conversation at some point or another. I remember during my training a pretty heated class discussion about whether the name “genetic counselor” is the most appropriate title for our role. As Bob Resta has previously pointed out, the name is not technically correct; as he explains “genetics counselor” is a more grammatically appropriate term. And many argue that we should consider replacing “genetic” with “genomic” to represent a more contemporary reflection of the times. Further, some believe that using the terms “consultant,” “specialist,” or “associate” in place of “counselor” more accurately reflects the broad range of roles we now hold.

While distinct, this subject is intricately tied to the discussion about expanding roles that genetic counselors now hold and will potentially hold in the future (For more on this see Bob Resta’s post: Who the hell do we think we are?).

The way forward

As far as I know there has yet to be a formalized discussion or review of the name “genetic counselor” by our professional organizations, despite the fact that this has been the topic of informal conversation since the establishment of the profession in the 1970’s. I think it is time we officially take a look at this subject. While our professional organizations are accustomed to creating an internal task force to manage this type of task, I think this particular issue may warrant a unique approach.

Specifically, I’d suggest:

  • The project would ideally be a collaboration between US, Canadian and potentially international organizations—as creating one united brand would benefit all of us (and creating different names in different countries would likely hurt us).
  • We conduct research and engage external stakeholders— patients, physicians and the general public—in the process. If the goal is to ensure our name accurately reflects what we do to the outside world, then the “outside world” should most certainly be at the table.
  • We partner with professionals to help with this task. Whether it is a communications consultancy, a naming firm or a branding agency, there are trained professionals dedicated to helping organizations solve these types of problems.

Changing our professional title would be messy and fraught with logistical issues. And I’m aware that at the end of this type of exercise we may learn that “genetic counselor” really is the most appropriate name for us. Alternatively, we may learn that creating one single term to describe the range of work we now do (or may do in the future) is just not feasible. Whatever the case, I think we owe it to ourselves and to future generations of genetic counselors (or whatever they might be called!) to take a good in-depth look at this issue, in order to ensure we are doing everything we can to enable our professional awareness.

I’m keen to see how others feel about the idea of considering a professional name change. Putting logistical issues aside, do you feel the time is right to officially evaluate our professional title? Cast your vote in the poll below.

Do you have an alternative name you favour? I look forward to reading your thoughts and suggestions in the comments section.



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Guest Post: Going Public

By Sean Hazell

Sean is VP Brand at Idea Couture, a global innovation consultancy, where he leads teams through the design of new products, services, and programs for Fortune 500 brands. Prior to joining Idea Couture Sean held strategy and communications planning roles at some of North America’s top advertising agencies.

A view from the sidelines

Full disclosure: my wife, Allison Hazell, is a contributor and one of the co-creators of the DNA Exchange.

Prior to the days of the DNA Exchange I would comment to Allie how fascinating I found it that GCs were involved in such innovative health services, and yet the field as a whole felt a bit traditional. Today, however, the community appears more open-minded than ever. From my view, it’s been amazing to observe how much has changed over these past 6 years.

Today, genetic testing is more culturally relevant than I can remember. The levels of testing-related coverage across major media is evidence of the growing public interest; to say nothing of the mentions the DNA Exchange has received. The world of genetics is growing at an almost unfathomable pace, and as we know, with that speed comes complexity and risk of misunderstanding.

Advertisement supporting the Globe & Mail's recent "DNA Dilemma" series.

Advertisement supporting the Globe & Mail’s recent “DNA Dilemma” series.

As the spouse of a GC I can’t tell you how many times I’ve participated in the dreaded “what do you do?” conversation. Recently, the number of blank stares returned is dwindling. This isn’t to say everyone is fully versed in the role of GCs. Rather, its still surprising how unfamiliar most are with the field. But the levels of public awareness around testing are clearly rising. Of late, “what do you do?” is likely to lead to a dozen follow-up questions for Allie – representing a very wide range of understanding on the subject (if we don’t take it upon ourselves to beeline for the veggies and dip).

Which brings me back to the opportunity I see from the sidelines. For all of genetics recent popularity, public understanding is still very low. This gap between interest and understanding will likely only continue to widen, at the rate at which new findings are being reported. Today the GC field has the opportunity – and you might even argue the responsibility – to help to interpret the latest ongoings in genetics for the general public. It’s an opportunity for GCs to repurpose your one-to-one counseling skillset to help to inform public discourse and grow mainstream literacy.

The GC community could become Gen Pop’s go-to source for unbiased interpretation on news and notes of human genetics. With a mandate to narrow the gap between professional and public understanding, the field could not only tackle its own awareness issues, but perform a social service that’s increasingly essential.

If you’re nodding along, the likely next question is… how? There’s never a quick solution to increasing public recognition, but here are a few starter suggestions to spur thinking:

  1. Identify the existing cultural conversations where a GC’s perspective can add value. It’s a lot easier to earn attention through existing conversations rather than finding followers for entirely new ones.
  2. Connect with people and parties who are driving related dialogue. Find ways to collaborate with peripheral parties, even if your perspective differs. Responding through an official statement is far less compelling than having a constructive conversation.
  3. Develop awareness initiatives that help to demonstrate what you do, versus those that simply state what you do. Good comedians don’t tell you they are funny. Find creative ways to show the general public how valuable your role is today.

I realize the notion of inserting GCs into the public arena is not a new idea (most recently, see #3 in Bob’s future post). But the timing feels right to make a push. Whereas many GC awareness initiatives I’ve followed have focused on physicians, the bigger opportunity could lie in aiming straight for the mainstream. An age of health information overload is emerging. As direct-to-consumer services increase awareness, there’s a corresponding need for a direct-to-consumer approach to increasing genetic understanding. And from where I’m standing, there seems no group better suited to guide that conversation.

Thanks for having me. I’d love to hear your thoughts, responses, or related experiences.

Advertisement supporting the Globe & Mail's recent "DNA Dilemma" series.

Advertisement supporting the Globe & Mail’s recent “DNA Dilemma” series. Read the full series here (scroll down to ‘Genome’).


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Guest Post: The Most Powerful Breakthrough in Genetic Science is…Hope

By Jim Small


Jim Small is an entrepreneur, speaker, author and successful real estate investor. A sudden family tragedy led him to discover his life’s purpose and career passion. Jim uses his real estate passion to help others create abundance and fulfill his life’s purpose of helping one million children reach their full potential. Jim is currently expanding his global reach on this mission by partnering with other world class speakers, motivators and industry game changers. Jim continues to speak around the world to groups about his personal journey and how others may find their purpose, passion and prosperity, through his Triumphant Legacy™ program (

Our family story and experiences with genetic counselors revolves around our oldest daughter, Sophia. Sophia was born totally typical with high APGAR scores and developed quite normally for her first year life. Then, somewhere between 15 to 18 months old, my wife and I noticed that she was regressing in her engagement with others – in her language and in her social skills — and she continued to deteriorate from there. We took Sophia to therapists and doctors, and the only thing that they could say was that she might potentially have the behaviorally diagnosed disorder of autism. So, for a couple of years, my wife and I tried to help Sophia with therapies, diet and alternative medical treatments, presuming that she had autism… and she really wasn’t getting any better.

A friend advised us to get a full-team assessment at a hospital in California. We took Sophia there for a work up which included neurologists, cardiologists, gastroenterologists, infectious disease doctors, immunologists – the full gamut. These specialists evaluated Sophia and then met as a team. One of the outcomes was to do some additional genetic screening for Sophia. She had already been tested for Fragile X, Rett Syndrome, Angelman and some other things that had all come up negative in the past, so my wife and I reluctantly agreed to do some more blood draws for additional genetic tests. When the results came back, we were asked to return to the hospital to discuss the findings with a neurologist and a genetic counselor. Before the meeting, Audra was told over the phone that Sophia had tested positive for Rett Syndrome and we were then sent the test results.

Not really knowing what Rett was, we waited to meet with the neurologist and the genetic counselor to learn about it. Our appointment was horrible. The doctor was clearly very experienced in neurology and she briefly explained a little bit about the genetic mechanism that causes Rett Syndrome – a mutation of the MECP2 gene on the X chromosome. Then the genetic counselor started to guide the conversation as she handed us a book on Rett syndrome. They both proceeded to tell us all the things that Sophia would NOT be able to do, how horrible her prognosis was, how difficult her life would be and how sorry they were that no treatments were known or forthcoming to help with the situation.

Needless to say, my wife and I left there feeling quite shocked, devastated and powerless. Basically, we went home and waited for our daughter to deteriorate as they said she would, doing nothing to improve her health for the next six months.

Then, as we were trying to treat her seizures (one symptom of Rett syndrome), we ended up seeing a neurologist at a hospital in Massachusetts, who suggested that we meet with a geneticist and a genetic counselor affiliated with that hospital and a very prominent medical school. Naturally, my wife and I were reluctant to do so after our experience at the hospital in California, but we really respected this neurologist, as he was extremely insightful, up on the research and very progressive. So we agreed to see this new geneticist in Boston. In meeting with him, we were given hope for the first time – he explained that there had been a reversal of Rett Syndrome symptoms in mice and that he was of the belief that in the coming years, we would be able to find a mechanism to help girls like Sophia reverse Rett syndrome completely. Moreover, he had been working with girls with Rett syndrome for many years, and told us that girls who presented like Sophia actually have a much better prognosis than what was described to us bythe genetic counselor at the California hospital.

Then his genetic counselor colleague came in to join the conversation. She explained once again the cause of Rett syndrome, and then began to elaborate on how they were looking into trials for particular drugs and treatments that may reduce the severity. Both the doctor and the genetic counselor stressed the many girls they had seen, like our daughter, who ended up having all kinds of abilities that weren’t in the text books and weren’t part of the old school prognosis (which they believed was outdated) and suggested that the future for our daughter was actually quite positive. Although my wife and I respect the first doctor’s and genetic counselor’s prognosis as historically accurate, we were struck with the 180 degree difference between that negative and de-motivating scenario and the hopeful perspective of the second geneticist.

Working with the team in Massachusetts, wife and I have felt very empowered and optimistic about our daughter’s future. Although the research available to both groups of genetic counselors was the same, the presentation of the facts, the future, and the prognosis were dramatically different. We hope that all families experiencing an issue that requires the help of a genetic counselor will have an experience as favorable as our second encounter, where we got hope along with the facts and an understanding of the reality. I think that optimism can make genetic counselors more effective, more empowering and more giving.

With medicine, nobody knows the future. Although experience and literature allows us to be familiar with the past, no one ever knows what scientific and medical breakthroughs will happen over the course of a human lifetime. So, as genetic counselors provide information, help and resources to families, I think it’s critical that they remain optimistic about the potential changes we are going to see in the future and how those will, almost inevitably, make the prognosis for today’s patients affected by genetic disease much, much better.Sophia_and_Daddy

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Guest Post: NIPS: A Call to Embrace and Educate!

By Lisa Demers

Lisa Demers is a certified genetic counselor working in a prenatal diagnosis program at Dartmouth-Hitchcock in Nashua, NH.  She graduated from the Arcadia Genetic Counseling Program in 2003.  Lisa has been president of the New England Regional Genetics Group, is a member of the New Hampshire Perinatal Loss Taskforce, and is the proud mother of two little boys who teach her more and more about Star Wars every day. 

I feel like it’s time to show some appreciation for the amazing screening test that has truly enhanced the prenatal screening world.  Non-invasive prenatal screening (NIPS) has taken our prenatal world by storm and is rapidly infiltrating university hospitals and private practices alike.  This is a change (who really likes change?) and it’s fast.   Testing has jumped out of the controlled hands of research laboratory scientists and into the lucrative playing field of investor-backed industry.  But is this a bad thing?

NIPS has taken traditional screening and made it better.  There is no denying that NIPS is a superior screening test.  The benefit of NIPS over traditional screening is acknowledged by the rapid approval of coverage by major insurance plans. I applaud Katie Stoll in her eloquent summary of the discrepant positive predictive value (PPV), but I do not think this area of ambiguity should overshadow the benefits of testing.  The PPV for a “high risk” (or whatever language the report contains) sample, even if it is 11% (using the data in Katie’s initial post), is about the same as a 1 in 9 risk for trisomy 18 using traditional methods.   So is the counseling really very different?   “This screening test suggests a very high risk for trisomy 18, diagnostic testing will tell us for sure”.

Our knowledge about how to best utilize this test and interpret the results is an ongoing process.  This is completely on par with other technologies. At one point, supernumary rings were identified on karyotype with little way to identify the origin.  The argument that we shouldn’t use a technology until we completely understand it is unreasonable.  We need large testing numbers to give us these uncertain results so that we can learn from them.  Ambiguity with test results is hardly a new concept for us.  Genetic counselors deal with this all the time!  Our counseling isn’t really changing; it’s just the same uncertainty coming from a different test.

I argue that this test provides much LESS ambiguity since most women are getting reassuring results.  The number of women who are screen positive is dramatically decreased.   Fewer women being anxious, fewer amnios being considered and performed, and fewer losses of otherwise normal babies.    And why wouldn’t an informed patient want the BEST screening test?   And why wouldn’t providers want to offer it?

I absolutely acknowledge that not all patients are fully informed about NIPS prior to testing, and I hate to think about the ignorance that providers may pass along to patients.  But what genetic counselor hasn’t had a patient arrive at their office with an abnormal screening result thinking that their baby is, in fact, affected?  We hear this endlessly.  And how long has traditional screening been around?  And those results even have a risk estimate listed!  Sometimes I like being the hero in these situations “You mean my pregnancy is at a one percent risk for Down syndrome?  What a relief!”  The misinterpretation of testing results is inevitable.  We should not back away from better testing simply because some people do not understand.

While I agree that I would prefer that the commercial labs present their results with some more obvious notation of the limitations of the testing, no report can eliminate ignorance.  So perhaps our focus can be a shift to better education.  After all, isn’t that we do?  We need to talk with providers in our area and help them understand the test more clearly.  Review with the nursing staff when a referral is sent to us that the results are screening and not diagnostic.  I can tell you that in my own experience, education isn’t always successful because I still have providers who offer universal SMA and Fragile X testing without being able to interpret the results. *Sigh*  But these patients are ultimately referred for counseling, and I consider that a success.

Education at the patient level is important too.  Group counseling sessions can be an effective way to inform the pregnant population, especially about universal topics like screening.  The overwhelming task of education is not unique to prenatal genetic counselors, but to the profession as a whole.  Rather than hold back on a test that is truly superior because providers misunderstand it, why don’t we try to tackle the larger issue of provider education?

What I hope is that the consumers of NIPS can work closely with the industry providers to further study the performance of this technology to better understand cell free fetal DNA and its utility in pregnancy screening.  Let’s work together in educating providers about the testing and the importance of pre-test counseling.  Patients deserve it.  Without the cooperation and participation from genetic counselors we risk delaying universal acceptance of NIPS.  Let’s all jump aboard and steer this train.


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FDA Letter to 23andMe: A Genetic Counselor’s Breakdown

FDA letter Nov 22

On Friday, November 22 Food and Drug Administration issued a warning letter to direct-to-consumer genetic testing company 23andMe. Many in the genetics community are experiencing a little déjà-vu this week, with the ensuing discussions in mainstream media and within online communities reminiscent of 2010 when FDA issued warning letters to 5 direct-to-consumer companies that were operating at that time. (Check out this post from Genomics Law Report for a good overview of the issue at that point in time.)

Regulation of direct-to-consumer genetic testing companies is complex and often confounded by thoughts and opinions regarding DTC advertising, DTC genetic testing, the validity and clinical utility of SNP-based panels, consumer rights and privacy, to name a few. I have personally fallen into a rabbit hole of articles, blog posts and twitter discussions in the past few days (see “Recommended Reading” section below). All of these outlets are debating the same issue, but this particular issue has an infinite number of very subtle angles.

The term “direct-to-consumer” conjures up strong emotions for genetic counselors. No doubt you will see some of this played out on The DNA Exchange in the next few days. However, in discussing the most recent FDA letter with a number of people (both colleagues and non-GCs) I’ve realized some basic review and clarification might be helpful. Hopefully this will serve as a nice starting point to frame our discussions on this issue in the days to come.

The full letter can be found on the FDA website here.

The 23andMe response has been posted here.

There are two basic aspects to the FDA  letter:

1. Marketing 

In the FDA’s words “…Your company’s website markets [your test] for providing “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevention” that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer….To date, 23andMe has failed to provide adequate information to support a determination that [your test] is substantially equivalent to a legally marketed predicate for any of the uses for which you are marketing it…”

My takeaway:  23andMe’s marketing materials claim their test can prevent serious diseases. The company does not have FDA clearance nor has it provided the appropriate evidence to make this blanket claim. This speaks most strongly to the clinical validity and utility of SNP-based testing—an issue that hits close to home for a lot of us. I think it is important that the FDA is highlighting the lack of evidence around prevention and predisposition testing for common disease.  However, we need to recognize that 23andMe is also testing for additional variants beyond SNPs.

Anecdotally, I’ve noticed that genetic counselors continue to use the terms “direct-to-consumer genetic testing” and “SNP-based testing” interchangeably, which is both incorrect and adds to overall confusion. Genetic testing for common complex disease (primarily based on SNP information) is still controversial in our profession. However, as noted in the letter, 23andMe is a direct-to-consumer company that is also providing carrier testing for Mendelian diseases as well as the 3 common Ashkenazi Jewish BRCA mutations. To dismiss the 23andMe service by saying “this test doesn’t tell you anything!” undermines some of the routine testing that we do within a clinical setting. One cannot argue that 23andMe’s service “doesn’t tell you anything” and “has the potential for serious harm” in the same breath.

2. Direct-to-consumer health information

In the FDA’s words: “Some of the uses for which [personal genome service] is intended are particularly concerning… For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.”

 My takeaway: 23andMe is providing health information and test results directly to consumers without the involvement of a physician. This could lead to medical mismanagement, “serious injury or death.” I believe the DTC aspect of the testing (in comparison with the SNP-based aspect) is still the biggest challenge to the 23andMe model. Genetic testing for disease causing mutations without appropriate clinical context, family history review and individualized interpretation is where real potential for harm lies.

Suggested Reading (Or, some of the more interesting articles I have come across so far)

Also, if you’re interested in learning more about FDA regulation of medical devices, I found this video on their website.


Filed under Allie Janson Hazell

Work, Life & Flexibility in Genetic Counseling

Work/life balance is one of the perks of our profession. Right?

I remember learning that great work/life balance was a benefit of the profession when considering genetic counseling as a career. I now routinely share this ‘fact’ with students who are interested in learning more about becoming a genetic counselor. In comparison with most of my friends– who work in advertising, pr, law and finance– my work/life balance is incredible. I can put in a full day of work, head to the gym and be home by 7pm to enjoy a leisurely evening. My hours are very predictable – and when I leave work I’m not on my phone all night like so many others I know.  So, last summer when the popular article Why woman still can’t have it all was circulating among my female friends, I read it with some distance

The author Anne-Marie Slaughter, a professor and former director of policy planning at the State Department, challenges the popular assumptions that if a woman 1) has enough ambition, 2) marries a supportive-enough partner and 3) plans her pregnancies accordingly, she can have a successful career in a position of power and nurture a happy and healthy family life all at once.

In her words,

Women of my generation have clung to the feminist credo we were raised with, even as our ranks have been steadily thinned by unresolvable tensions between family and career, because we are determined not to drop the flag for the next generation…I still strongly believe that women can “have it all” (and that men can too). I believe that we can “have it all at the same time.” But not today, not with the way America’s economy and society are currently structured.

The author goes on to argue that having flexibility in the workplace (namely the ability to determine your own schedule and work from home when needed) is one of the single most important factors in helping to balance a successful career and busy home life.

I am currently on maternity leave, and thinking back to this article I realize that the author’s focus on flexibility really stuck with me. While there are many things I enjoy about working in a busy clinical setting, flexibility is not one of them.

F&A June 2013

If I’m not able to make it in for my 9am patient, then it falls on the shoulders of a colleague, pushing back her own 9:30am appointment, which in turn will affect a whole day full of patients. Like many counselors I know, I very rarely miss a day of work unscheduled. But as I look towards the future imagining an ill child or a caregiver who calls in sick—I realize I may no longer have as much control as I used to. I am reminded daily by my giggling and communicative 5-month old daughter that it is no longer just me I have to worry about. I’m learning that my definition of ‘work/life balance’ may be about to change.

Out of curiosity, I went to Professional Status Survey to get a sense of how we as a profession rate our work/life balance.  Looking at the most recent versions of the National Society of Genetic Counselors and the Canadian Association of Genetic Counsellors surveys, it appears that the question has not been formally asked.

Beyond the clinic

Increasingly, genetic counsellors are working in a wider category of roles and environments. In fact, we have used this blog to highlight diverse GC roles in the past. My childless self had previously seen this primarily as a sign of the genetics field expanding. But it now occurs to me, this may also be in part a result of GCs looking to find a professional opportunity that better suits their lifestyle. I recently came across a nice interview on the Counsyl blog about a genetic counselors’ decision to trade-in clinical life to work from home that would support this view.

The trend towards a non-traditional work environment is happening in almost every sector. Many argue that our society is at a turning point, where lengthening commutes and new technological capabilities are prompting employees and employers to re-consider the traditional workday. For instance, Medcan Clinic – my current employer – has recently increased our services to include Saturday clinics. As our society – including our patient population – increasingly values flexibility, our profession will have to continue to adapt. Responding to changing patient and employee schedules will likely become an even bigger focus in the coming years; and as a result we can expect to see the creation of even more non-traditional services, roles and communication formats.

How might the GC profession maintain its positive work/life reputation in a world that increasingly values flexibility?

The medical world tends to lag other professional service industries when it comes to making change. I recognize that the structure of the traditional genetics clinic will not likely undergo any wholesale changes overnight. Nevertheless, I think this is an important conversation for us to start having now. In fact, I’ll be participating in a panel on technology and innovative communication in genetic counseling at this year’s NSGC conference in Anaheim (excuse the shameless plug).

I would love to hear from other GCs who have thoughts and experiences around this topic. Where do you think the GC role currently stacks up for work/life balance? Have you found ways to integrate more flexibility into your role? Where do you see opportunities & challenges for GCs to better manage work/life as our profession evolves?


Filed under Allie Janson Hazell