Tag Archives: Genetic counseling

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.

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Not Ready to Make Nice: Juggling unabashed advocacy and NSGC’s insidious culture of “nice”

Jordan Brown, MA, MS, CGC

All sentiments expressed in the essay below are completely my own and do not represent the opinions of either The Ohio State University or the National Society of Genetic Counselors (NSGC).

This essay was initially intended as a blog post for NSGC Perspectives.*

Reacting to the recent Ohio and Arizona legislative “reason bans” which prohibit abortion based on prenatal diagnosis, many of my colleagues and members of NSGC wrote to the Board about the need for the organization to respond to these developments. After multiple conversations, NSGC Leadership asked me to write a piece explaining to members that it is okay to be an unabashed advocate as an individual genetic counselor (and not under the NSGC umbrella) and that advocacy via NSGC does not need to be the only avenue through which to voice opinions and support change.

I agreed to this task in the moment, seeing it as a way to reach members and encourage participation in ongoing efforts focused on increasing access to reproductive care. But when I sat down to write, I could not do it without feeling like I’m directly supporting a culture of “nice” in our organization – in other words, a culture of being complacent and biting one’s tongue when disagreements exist. Although this culture of “nice” is not something that is unique to (the lack of) advocacy efforts around reproductive issues, I think it is especially highlighted in this sphere.

In my first year as a NSGC member, I applied for and was selected to serve on the Public Policy Committee (PPC) and thought I had found my niche. Did I know exactly what the committee did? Nope, but I was filled with optimism that this role would permit me to be involved in hard, meaningful conversations about policy-related issues with my colleagues. This was particularly important to me when considering our organization’s position on reproductive justice, and specifically regarding abortion. I was surprised to learn that the role and responsibility of the PPC was really limited to revision and reaffirmation of existing position statements, most of which, however relevant and important to our profession, tread very lightly on issues which can be perceived as “political,” such as social and reproductive justice concerns.

Throughout my time as a PPC member, I noticed a lingering sense of frustration that the committee was consistently instructed not to raise issues related to NSGC’s stance on reproductive freedom and abortion. We had a position statement on “Reproductive Freedom” that was initially composed in 2014 and reaffirmed with no edits in 2017 after an attempted revision was quashed. Is the position statement well written? Sure. Does it acknowledge the importance of autonomy in reproductive decision making? Yes. It is an adequate statement, and that is about it. It has just enough substance to be able to say we have a statement, but not enough substance to be truly meaningful or actionable in any way, shape, or form.

Conversations about whether the Reproductive Freedom statement should be reaffirmed or revised ultimately culminated in the decision, year after year, to leave the unedited 2014 statement off the PPC’s working docket. Each time, the justification for this was that any controversial moves might jeopardize the passage of our federal bill. In 2021, as I transitioned to PPC leadership, it quickly became apparent that much of the feedback was coming directly from NSGC’s [unelected] lobbyist. I will not lie, it would be easy at this point to let my emotions take over. Actually, I am going to let them take over for a second. The mansplaining emails, the gas-lighting, the rude political comments at conferences, and the long-standing bizarre seemingly patriarchal power dynamic with NSGC Leadership all feels icky and gross.

However, this is something much bigger than personal feelings. The culture of “nice” is, and historically has been, pervasive in our profession. Sure, I understand that not everyone is up for a fight. This is not about excluding or devaluing our colleagues whose personal values and convictions do not align. This is not about picking sides. It is okay for genetic counselors to not personally support abortion, in fact it is beautiful to have an opinion-diverse organization. What is not okay, however, is for the organization as a whole to place the responsibility of advocacy on the few members who are actually willing to put a target on our backs under the dismissive rhetoric of “abortion is a topic that not all members agree upon.” Additionally, let’s stop displacing the weight of this onto our patients. Obviously, we all want our patients to have autonomy in their reproductive decision-making. This does not just mean abortion; this means access to reproductive healthcare as a whole, and this is integral to our profession regardless of one’s specialty or personal values. Reproductive justice is much, much more than abortion and is inherently intersectional. J in JEDI stands for Justice. If NSGC is outwardly dedicated to JEDI efforts, NSGC must also be outwardly dedicated to reproductive justice.

Frankly, at this point it seems as if many advocacy efforts within NSGC are completely on hold pending the passage of the federal bill. Our bill is important, for so many reasons. While there are other organizations that advocate for other efforts, NSGC is the only one that is advocating for the recognition of genetic counselors by CMS. However, at what point does speaking up about a larger societal injustice (namely, decreased, and in some cases completely restricted access to abortion care) that may come with losing some (or even a lot) of support on the Hill outweigh playing the politics game? For years, members have urged NSGC leadership and the Government Relations team to speak up on the ongoing legislative efforts to decrease access to reproductive health care; to boldly state that we as an organization (whose field [clinical genetics] was born of undeniably eugenics roots) believe it is unquestionably WRONG for forced sterilizations to occur in any circumstance but particularly at the US/Mexico border; and to acknowledge that we cannot have authentic JEDI efforts without including advocating for reproductive justice. At some point, continued silence and non-action is complicity.

Most of our members have ovaries and a uterus. One of every four people with functional ovaries and uterus has an abortion during their lifetime. Do the math. As a genetic counselor who has had an abortion, our organization’s continued silence stings. I have no negative feelings or regrets about having had an abortion, however NSGC’s lack of response on the essential nature of access to abortion care is hurtful. I cannot be the only one feeling this way.

As a middle-class, white, cis-female with access to great healthcare and reasonable understanding about how to navigate the US health system, I had to travel out of state to have a second-trimester abortion. I do not feel that this is the space to discuss the details of my own experience, but I will say that the added stress of jumping through logistical hoops further intensified my own emotions at the time. This is real stuff, and this was all before the recent attention on anti-abortion legislations throughout the country.

I only disclose my own experience to highlight that it is often hard for individuals regardless of race, socioeconomic status, or gender identity to access abortion services and reproductive healthcare in general. For individuals without my resources, the challenges are more acute, and care is often inaccessible. If we are going to say that we, as NSGC, value diversity, equity, inclusion, and justice, then we must advocate for access to reproductive healthcare and abortion services as an organization. We know there is power in numbers, it is far overdue that we utilize that power and use our voice to advocate for both ourselves and the patients we serve.

This essay is surely not what the NSGC Leadership expected when they asked me to write a piece on how to be an advocate outside of NSGC. It goes without saying that you should be able to be an advocate outside of NSGC. There should be no repercussions from the organization for individuals advocating for a better world as they see it, and for taking a stand and being outspoken about injustices pertaining to our profession, the medical community, and society at large. The fact that this would need to be said is problematic in and of itself. Let us disrupt the culture of “nice” within our organization so we can truly be unabashed advocates for ourselves and our patients. 

NSGC’s continued silence on this issue has not and will not go unnoticed. If you feel as though NSGC should take a clear and strong stance on reproductive justice, please consider the following action plan.

  1. Email the Board, and consider encouraging your patient advocates to email the Board. Let them know how important it is to take a firm stand on this issue.
    1. Who do I email?
      1. nsgc@nsgc.org (Attention NSGC Board of Directors)
  1. What do I include in the subject line? (Feel free to copy and paste)
    1. NSGC Advocacy for Abortion Access and Reproductive Healthcare
  1. What do I say? (Feel free to copy and paste)

Dear NSGC Leadership,

As a member of NSGC, I would like to see the organization respond directly to ongoing legislative efforts to decrease access to abortion and to advocate for reproductive healthcare. Our voice as genetic counselors on these issues is long overdue.

Thank you,

Name

  1. Take this two question survey regarding your opinions NSGC’s role in advocating for abortion access and reproductive healthcare.
  2. Advocate outside of NSGC. This list was curated with the help of Katie Sagaser, MS, CGC. The resources and suggestions listed below are just a stepping stone. Do some research regarding ongoing advocacy efforts in your state.
    1. Join the National Network of Abortion Funds (https://abortionfunds.org/) and become a monthly donor.
      1. Consider setting up a recurring donation directly to your local fund.
      1. Consider whether you might be able to support not only your local fund, but also a fund for a region to which you frequently need to refer patients. For example, the DC Abortion Fund and Baltimore Abortion Fund both provide funds to out-of-state patients traveling for abortion care in those areas.
      1. What else can you do to help support your local fund? Do you have some free time in which you could provide transportation to someone who needs a ride to their appointment? Your local fund facilitates that. Do you have a spare bedroom that you could loan to someone who needs to stay overnight before their procedure? Your local fund facilitates that. There are SO many ways to help these local funds (and independent abortion clinics, too) – usually volunteers are needed to help staff helplines, create content on Instagram and Twitter, translate documents into Spanish, and assist with fundraising.
      1. Regarding Arizona specifically: The Abortion Fund of Arizona (https://www.abortionfundofaz.org/) is a NNAF affiliate and a fantastic resource.
    1. Set up a recurring donation to SisterSong (https://www.sistersong.net/), the largest national multi-ethnic Reproductive Justice collective. SisterSong founders and leadership are truly the change makers and who we need to be looking up to in the reproductive justice space.
    1. Regarding Ohio specifically…
      1. Ohio GCs, consider donating your money and/or time to Women Have Options (https://www.womenhaveoptions.org/), which provides financial and practical assistance for abortion services.
      1. Support New Voices for Reproductive Justice (http://www.newvoicespittsburgh.org/), “a social change movement dedicated to the health and well-being of Black women and girls through leadership development, Human Rights and Reproductive Justice.”
      1. Consider referencing OPEN (http://open.osu.edu/) for current educational material and ongoing research on reproductive healthcare policy in the state of Ohio.
      1. See below for information about NARAL Pro-Choice Ohio.
    1. If you are particularly interested in public policy, you might consider joining your local NARAL Pro-Choice America chapter (they exist in CA, CT, GA, MD, MA, MI, MS, NV, NC, OH, OR, VA, WA, and WY).
      1. Sign up to take their volunteer training and join one of their committees – whether you want to ensure reproductive justice in the form of promoting comprehensive sex education in schools, contraceptive access at colleges, menstrual product access to immigrants, or health policy measures as they pertain to reproduction in your state, there is going to be a committee for you.
      1. You do NOT need to reinvent the wheel because there literally are folks whose entire jobs are devoted to this – they just need our time commitment (and usually donations don’t hurt either).
    1. The ACLU has a specific Reproductive Freedom initiative, and on their website you can sign up to donate your time in the form of hosting/organizing events, making calls, and other ways.
    1. Consider donating your time, spiritual energy, and physical presence in the form of being an abortion doula.
    1. Say the word “abortion.” Seriously, say it. Mirroring patient language is important, but the more that we avoid this term in daily life, the more that we add to its stigma. How can you speak more openly about abortion as an important and necessary component of healthcare? Can you perhaps even invite some of these conversations by carrying an “abortion is healthcare” tote bag to the grocery store, or wearing an “abortion is healthcare” mask to the gym?

Be on the lookout for the launch of the GENUINE Collective: Genetics Providers United in Efforts for Reproductive Justice. This Collective will serve as a landing page for advocacy resources and opportunities as well as an open discussion forum for members.

The GENUINE Collective is an independent group of clinical genetics professionals dedicated to shameless advocacy for reproductive justice in the United States of America and beyond.

While persons involved in the Collective may hold memberships in various professional medical societies, the Collective is not, in any way, affiliated with professional medical societies.

*Previously I said NSGC Perspective’s declined to publish this article, NSGC has asked me to retract this statement, I would like to clarify that while I never received a written rejection from NSGC, they did not respond to the submission (after requesting an essay with a quick turnaround time), only responded after author follow-up, and stated that this piece was not in line with the goal of Perspectives.

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What A Mess

The single biggest problem in communication is the illusion that it has taken place.   – Apocryphal quote, likely incorrectly attributed to George Bernard Shaw

A South Carolina court recently granted a summary judgment in favor of the defendant in the case of Williams v. Quest Diagnostics, Inc., Athena Diagnostics, Inc,  ADI Diagnostics, Inc.  The ruling is particularly relevant to the genetics profession because it concerns the potential legal implications of the classification of genetic variants.

This legal odyssey began nearly 5 years ago but the clinical story began 14 years ago, and was first reported here on The DNA Exchange. Briefly, Amy Williams, the plaintiff, filed a suit in 2016 on behalf of her deceased son alleging negligence on the part of Athena (now owned by Quest) when in 2007 it classified a variant in the SCN1A gene as a Variant of Uncertain Significance (VUS) in her son who had a seizure disorder. SCN1A pathogenic variants are diagnostic for Dravet syndrome.

Multiple specialists were involved in the child’s care, but it seems from the medical records that none of them were actually aware of the genetic test results. The ordering physician could not recall having seen the report and the treating physicians never received a copy of the report or a communication from the ordering physician about the result, even though a copy of the report is in the medical records. Consequently, her son’s treating physician kept him on carbamazepine, a sodium channel blocker that is contra-indicated in children with Dravet syndrome. Sadly, he died about 6 months later, likely due to the contraindicated medication. Ms. Williams did not find out about the SCN1A result until nearly 7 years after the report was issued, and then only after a genetic counselor who was sifting through the records found a note from 2008 referring to an SCN1A VUS (for a fuller description of this saga, I refer you to the excellent articles written by Turna Ray, a journalist for Genome Web).

The lab’s defense rested on a legal technicality of the statute of limitations. Per South Carolina law, litigation cannot be brought against a healthcare provider if the offense took place more than 3 years prior to the filing. The lab’s lawyers argued, and in 2018 the South Carolina Supreme Court agreed, that a lab qualifies as a healthcare provider under state law. Subsequently, Judge Margaret Seymour, the judge who presided over the original case (and who displayed an excellent grasp of the genetic and legal issues), found that several of the plaintiff’s claims were “comprised of allegations sounding in both medical malpractice and ordinary negligence” and allowed the matter to move to discovery for the purpose of determining what caused Athena’s laboratory staff to misclassify the gene variant. Ms. Williams and her lawyers proceeded with the case based on “claims for wrongful death, survival, negligent misrepresentation, constructive fraud, and violation of the South Carolina Unfair Trade Practices Act.” Following discovery, the defendants requested a summary judgment to dismiss the case (in a summary judgment, either a plaintiff or a defendant can assert that the facts in the case are not in question and ask the judge to make a decision on the case without a full trial). 

Judge Seymour based her decision on the statute of limitations ruling by the South Carolina Supreme Court and the likely inability to prove proximate cause (i.e., that the VUS classification led to continued treatment with carbamazepine which then caused the child’s death), and dismissed the case: “The court concludes that no reasonable jury could find Defendants erred in classifying Decedent’s variant as a VUS, or that any misclassification was the result of nonmedical, administrative, ministerial, or routine care. Defendant’s motion for summary judgment is granted as to this issue.”

In an unfortunately cruel twist, Ms. Williams and her lawyers may owe Quest and its lawyers ~$140,000 in court sanctions imposed after some personal emails and other documents that, in my view likely had little bearing on the facts of the case, were deleted or improperly withheld because of less than stellar legal representation. The defendant’s lawyers offered to drop the costs stemming from sanctions if Ms. Williams agreed not to discuss the case in public forums and to discourage others from doing so. However, she did not agree to the proposal and remains firm in her belief that her son’s story needs to be discussed in public for the benefit of the public and the genetics profession, even in the face of potential financially ruin.

Was Athena’s original variant classification appropriate? Published case reports at the time the interpretation was first issued suggested that the SCN1A variant could be likely pathogenic (that was not the common terminology at the time), one of which was co-authored by Athena staff. Yet comments in the test report state there is an “absence of published studies correlating these variant(s) with clinical presentation and/or pathology.” In April of 2009, 2 years after the report was issued, Athena reclassified the variant as pathogenic, although they cited no new evidence beyond what was available when the report was first issued. Specialists in variant classification, who understand the intricacies of variant classification far better than I do, have weighed in and most have argued that Athena’s original classification of a VUS was appropriate for the knowledge available in 2007. Currently there are two entries for this variant in ClinVar, neither of which make an attempt at classification. I am not about to get into a debate with good scientists who know a heck of a lot more than I do about variant classification. I will say this, though, as someone who orders genetic testing every day, I rely heavily on labs to interpret variants and to let me know when there is in a result that might be grayer than ordinary. Especially in a case where a treatment decision with life and death implications hinges on a test result, I would expect the lab to explain their justification for the interpretation and to have made it clear in writing in the report. A phone call to the ordering provider wouldn’t hurt either, to be sure that the critical information and any uncertainty is clearly communicated.

Just as egregious, Ms. Williams should not have learned of a genetic test result almost 7 years after it was issued, and then only almost incidentally. Nor does it appear that the physicians who cared for the child were aware of the updated classification or communicated it to one another – not surprising, given that they were apparently unaware of the original report. Had she been notified in a timely manner, she may have initiated a discussion of why the variant was classified this way and if the evidence was strong enough to be the basis for treatment decisions. Of course this burden should not be on the patient but it could have offered another opportunity for further exploring treatment decisions based on the result. Many of us in the medical field, including me, have been critical of the requirement of the 21st Century CURES Act to notify patients of test results within 24 hours of when they are ready. My grumbling aside, Amy Williams and her son would have greatly benefited from being notified of her son’s result 24 hours after it were available. Does it have to take an Act of Congress to ensure that healthcare providers are responsible communicators with their patients?

In my view, nothing good came of this case in terms of the reputation of the genetics community, though of course nowhere near as bad as the devastating effects for Amy Williams and her son. To resurrect the line from the Captain’s speech in the movie “Cool Hand Luke“, what we have here is failure to communicate. Basically, a child may have died prematurely because of poor communication between the lab and care providers, between care providers, between care providers and the patient’s mother, and between the lab and the patient’s mother. Everybody lost and nobody won, even if Athena/Quest won from the perspective of not having to pay damages.

Will we now become better at communicating results to patients? Perhaps the CURES Act will help some. But as genetic testing expands well beyond the genetics community, communication about the implications of test results will likely still be deficient in many instances, in part because many non-specialists who order genetic tests are not particularly adept at interpreting them. Furthermore, although it’s hats’ off to ClinVar and other collaborative efforts for classify variants, variant classification will continue to be an Achilles’ heel of genome analysis because there is just no profit in it and it can be so damned complicated. 

I look back on this story and feel a knot in my stomach.

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When Good Genetic Counselors Are Bad Role Models

I will be retiring at the end of this year. In a natural reflex triggered at career’s end, I have been reflecting on my 37+ years as a genetic counselor. Among other things, I have been pondering what traits make for a good genetic counselor, what makes us better or worse at our jobs. So far, I have not come up with brilliant insights that would vastly improve professional practice.

Except maybe this one – we are sometimes not so good at asking for help from one another in our workplaces or saying “No” to more work when our workloads are already overwhelming. We, who are so dedicated to helping others, are not so good at helping ourselves.

Many of us are guilty of this sin to varying degrees and in different ways. Sure I’ll see that last minute add-on at 4:30 today even though I  came in early and had planned on leaving at 3:30. If I come in to the office over the weekend, I can catch up on my dictations. I can’t refuse the last minute ask by my boss for an analysis of clinic data over the last 3 years for a presentation she is giving tomorrow, even though I have a full patient load. That patient has a busy schedule; I told him I would come in an hour early to accommodate his schedule. Or worst of all, coming in to work when you’re sick because “it’s just so busy”; just what the colleagues need, a super-spreader (maybe one good thing that has come out of the awful COVID epidemic is that people may now be more willing to use their PTO when they are sick).

Part of the reason we are so willing to overwork ourselves is that genetic counselors are uniformly compassionate people. We care deeply about our patients and we want to do our best to help them through difficult times. If we didn’t, we would never have made it past the gatekeepers of the profession, the ones who decide who does or doesn’t get admitted to or stay in the training programs. Compassion and empathy were in the vows we took when we wed ourselves to the genetic counseling profession (back in the day, we OGC’s – Original Genetic Counselors – also took a vow of poverty but fortunately nowadays that vow has been dropped from the list).

But I think there is another reason that contributes to our inability to just say no – professional insecurity and professional self-image. Deep down, we like to think of ourselves as superheroes. We don’t want to admit to ourselves that we are not indestructible superheroes capable of withstanding the forces that attack us and test our strength as we fly to the rescue of our patients, or for others to think we are vulnerable. Asking for help is our kryptonite.

 

We worry too that our genetic counseling colleagues will think the less of us if we say to them “You know, I am starting to fall behind in my work. Could someone else see one of my patients today?” Or that we might look less than compassionate if we say to a patient or a referring provider “I would ordinarily squeeze in this last minute referral. But there just isn’t enough room in my schedule today to accommodate your request.” These kinds of responses can gnaw at your image of your professional self and make you feel inferior. After all, you look around and your other colleagues seem pretty busy too but they aren’t saying no to extraordinary demands. Maybe I am not as a good a genetic counselor as they are. So instead, you wind up sucking it up and taking on the extra work.

This is an insidious frame of mind. It contributes to professional burnout and compassion fatigue. After a while, you just can’t take it anymore. Which nearly  happened to me some 5 or 6 years ago when I came within a heartbeat of walking away from the profession. One of my great strengths as a genetic counselor is that I am incredibly efficient. Which is also my great weakness; my ability to get things done led to greater workloads as it seemed that I could absorb nearly any workload. I finally told my boss that either I get more help immediately or I’m outta’ here. A gamble, but it paid off. I got the help I needed lickety-split and today I work with 3 terrific genetic counseling colleagues. I became a more human superhero for having done it.

The problem propagates itself across generations when you realize that we, consciously or unconsciously, are role models for younger counselors and students. They see us burdening ourselves with ridiculous work loads. Even if we tell them to not do as we have done, they subconsciously get the message that this is the way good genetic counselors are supposed to be. They admire us and want to, if not exactly be clones of us, fashion themselves into some approximate image of us based mostly on our actions, not our words. Unfortunately, the role models put up a damned good front.

Sure, some of this stems from management, who unfailingly claim there is a budget crisis and who seem to have an ingrained belief that there is one too many staff around here or that more patients can miraculously be shoehorned into a schedule. That part of the blame is on them and their out-of-clinical-touch mindthink. But a goodly part of the blame is on ourselves. We will never get help if we don’t ask for it. And we can start by asking for help from each other. Even if your colleagues are just as busy and can’t help you out, it becomes an opportunity for everyone to acknowledge or realize that we don’t have to be the Justice League of Genetic Counseling, always ready to save the genetic universe. We are, at the end of the day, imperfect humans trying to make super-human efforts. If we can’t always save the day, we are not failures. If we embrace this, we will be better genetic counselors.

 

On another topic altogether, with the help of Emily Singh I have created a pair of graphics to reinforce the message that masks are symbols of compassion, not repression, and to urge my American readers to vote in the upcoming election. Remember – many superheroes wear masks. This is one way we can help save the world without adding to our workload.

 

 

 

 

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JOAN H. MARKS 

In Memoriam

1929-2020

Of all the pioneers who helped shape the field of genetic counseling, it is likely that no one was more influential than Joan H. Marks, who died on September 14th at the age of 91.  In 1972, when Joan took over the 3-year-old program at Sarah Lawrence College that now bears her name, there was no accrediting body, no national society, no Journal of Genetic Counseling.  She stayed for 26 years, a dominating and charismatic presence, often intimidating, often demanding – a fierce advocate for both genetic counselors and their patients, who she insisted deserved more than a lecture on chromosomes and recessive inheritance.  

When your friends and relatives ask you, as they still do, ‘what is a genetic counselor?’ the answer you provide, whether you know it or not, is an echo of Joan’s vision, distilled in a generation of students who went on to define their roles in workplaces across the country, to found NSGC and ABGC, and to serve as teachers and program directors in their turn, passing along the ethos that remains integral to the field.  

I met Joan when I interviewed at Sarah Lawrence in 1999, when she was very much the eminence grise.  “I imagine you’ll get in,” she said to me, looking over my transcript with a practiced air, and I was thrilled – an excitement that was immediately tempered when she mentioned that she would not be sticking around to educate this new class of genetic counselors.  As a charter member of the post-Joan-Marks generation of Sarah Lawrence alums, I can attest to the lingering effects of her legacy.  

Still, devoted former students have told me over the years that I was unlucky not to have known her better.  No doubt this is true (and no offense to Caroline Lieber, who inherited the mantle at Sarah Lawrence and was a great program director in her own right).  So today I would like to invite all of you who knew Joan Marks as a student or a colleague or a friend to treat this post as a sort of an invitation and add your reminiscences here.  

First up, a lovely tribute form Caroline Lieber herself, who talks about her experience filling some very big shoes in the world of genetic counseling.  I hope that many others will fill the comments.

Joan Marks: One of a kind

Caroline Lieber, MS, CGC Director Emeritus, Sarah Lawrence College Joan H Marks Graduate Program in Human Genetics

I met Joan Marks in February 1978.  My then-boyfriend and I flew to New York and then took the train to the Sarah Lawrence campus, two California kids in New York for the first time.  He waited outside of Morrill House while she and I “talked.”  It felt more like she talked and I listened.  After the interview I said, “I am not sure that went so well….” 

But when I called my parents from South America that July to check-in, my father excitedly said, “You got accepted at Sarah Lawrence!” My boyfriend and I packed our meager belongings and headed east. Two California kids in New York for the second time. We arrived two weeks before classes were scheduled to start.  I was going to be a genetic counselor!

Having been undergraduate genetics major, I was comfortable in the science courses. The psychology courses were a different story.  As our instructor for “Issues in Genetic Counseling,” Joan had us read broadly about ethical concerns, the depth of emotional responses to genetic conditions in families, and articles to help identify counseling techniques and how to use them.  She commented in detail on each paper we wrote.  In one paper I found recently, she pointed out some inconsistencies in my thinking.  She further remarked, “But what’s good is that you see yourself as a counselor and you see how tough it can be. I’d like you to reread what you’ve written carefully and try to be objective-aren’t you inserting some biases here and there?” Her critique was not always welcome, but she always made me reflect on each point she made, and to look at it from another view.  I learned to be more empathic in a tough-love way. I am proud of the genetic counselor I became under her direction.

Fast forward to 1998. I discovered that Joan was planning to retire from Sarah Lawrence. I applied for the director position, and went through rigorous interviews.  I recall the pointed questions, some designed to make the interviewee a bit uncomfortable, as a means of gauging responses to tough situations. Even though she wasn’t in the room, it was clear that Joan was part of the process. Fortunately for me, I was selected.

Following in Joan’s footsteps was daunting.  Those early months felt exciting and overwhelming as I learned a whole new landscape.  Not surprisingly, Joan had very definitive ideas about the future of the program and often wanted to share her thoughts.  As my advisor and mentor, I made a point of responding to her calls and emails, listening to her guidance and counsel.  As it was when I was a student, I was not always in sync with her thoughts, but I learned to incorporate many of her suggestions. As I gained confidence in my role, I learned to trust my instincts and experiences to find my own personality in the position.  When in time, Joan told me that I was doing a good job, letting me know that she approved of my leadership, it meant a great deal to me.

During my tenure as program director, our relationship grew on many levels.  Joan and I grew together professionally as we worked on several commemorative events. When the program was renamed in Joan’s honor, it was a proud day for the college and the Joan H Marks Graduate Program in Human Genetics.  After I moved into New York City, we grew closer personally, sharing life outside of the program.  We met for lunch and talked about some of her other interests, including art and gardening. I got to know her softer side.

Joan Marks was the most committed and passionate advocate for the genetic counseling field that I have ever known.  As Laura Hercher said, “I doubt any other single individual did as much to shape the field.”  She put the profession on the map with style, charm, directness and savvy.  It was my privilege to be her student and mentee.  It was my pleasure to be her friend.

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Selective Amnesia, Part 3: We Are Judged On Our History

In Part 1 and Part 2 of this three part post, I described the continuity of explicitly eugenic goals in post-WWII genetics as illustrated by some aspects of the history of the American Society of Human Genetics (ASHG). Here I follow these eugenic threads up to the modern day to help us understand the complicated and at times antagonistic relationship between geneticists and people with disabilities, their families, and their advocates. I pick up the story with the introduction of amniocentesis into clinical practice.

It is probably not a historical coincidence that “genetic amniocentesis” began to flourish once safe, legal abortion became available in the US and other countries in the 1960s and 1970s (amniocentesis had been performed for therapeutic reasons and for monitoring fetal lung maturity and Rh incompatible pregnancies for some time prior). In the 1970s, cell culturing techniques and cytogenetic G-banding allowed reliable prenatal detection of fetal karyotypes. Prenatal testing was initially made available to pregnant women who were 35 or older. The story that is told – our collective memory –  is that this age cutoff was chosen because at age 35 the probability of an unbalanced karyotype in the fetus was greater than the miscarriage rate of the procedure. In fact, the primary reason that this cutoff was chosen was economic cost-benefit –  the cost-savings by preventing births of children with Down syndrome outweighed the cost of the procedure and lab work. Or, as the authors from a 1973 article in The Lancet more bluntly put it:

“We are less certain about the balance and costs [of amniocentesis] at current rates of screening the whole pregnant population. But is a detailed estimate of the costs required? The lifelong care of severely retarded persons is so burdensome in almost every human dimension that no preventive program is likely to outweigh the burden.”

As each new form of prenatal diagnosis was introduced into clinical practice – maternal serum screening for neural tube defects, chorionic villus sampling, ultrasonography – the scope of conditions considered for prenatal screening expanded, as did the number of pregnant women “eligible” for testing. For example, alpha-fetoprotein (AFP) screening was introduced to detect spina bifida and anencephaly and then broadened when it was discovered that low maternal serum AFP was linked to fetal Down syndrome, trisomy 18 and other aneuploidies and genetic conditions. Detection rates continued to rise as additional analytes (e.g. hCG, estriol) were incorporated into testing. Ultrasonography was initially seen as a tool to measure fetal growth, verify viability, and to identify multiple gestations. It soon became a diagnostic and screening tool for detecting neural tube defects, then Down syndrome, and eventually many uncertain, minor, and profound fetal anomalies. Targeted carrier screening for genetic conditions enriched in certain populations such as Tay-Sachs disease among Ashkenazi Jews grew to include ten or twenty conditions, and now covers hundreds of rare genetic conditions, regardless of ancestry

Up until the 1990s, most studies that tried to measure the success of genetic counseling focused on reproductive decision making and the impact on the incidence of disabilities. Thus, prenatal testing  continued the historical thread of the overarching clinical concerns of medical geneticists that the gene pool was unhealthy and that disability was a medical and familial tragedy as well as an economic drain to be avoided. Compared to counseling patients to make the “right” reproductive decisions, prenatal testing was a more direct tool for avoiding disability and its associated costs. You might counter-argue that not all women choose to have an abortion when faced with an abnormal prenatal test result. Although there is wide variability in termination rates when Down syndrome is detected prenatally (<50% t0 >90%), estimates suggest that prenatal screening in the US has resulted in about a 1/3 reduction in the prevalence of Down syndrome. Other studies show that the ultimate effect of carrier screening is to prevent the birth of children with genetic conditions

This expansion in prenatal testing occurred with minimal input from people with disabilities, their families, or their supporters. Or input from too many others outside of the genetics and obstetrics communities. No careful weighing of ethical and social values, no seeking of diverse viewpoints. Pretty much any time a new test was shown to be clinically valid or an old one was improved, it was incorporated into clinical practice, a trend that accelerated once genetic testing became big business. Offering genetic testing to all pregnant women for a whole bunch of conditions, well, there’s gold in them thar’ hills.

I know that the view from inside the clinic is very different. Women faced with a positive prenatal test result make difficult, highly situated, emotionally difficult decisions that have little to do with concerns about the health of the gene pool or reducing the population frequency of genetic conditions. But the view from outside the clinic yields a different picture, one in which prenatal testing can look like an existential threat. In addition, people with disabilities get no palpable benefit from prenatal screening, and, tellingly, very little research has been done that tries to demonstrate medical or psychological or developmental benefits to prenatal testing. With rare exception, we are not even trying to show that prenatal testing is helpful beyond allowing the option of termination, even if we claim – with little proof – that it can help prepare a family for the birth of a child with a disability. Advertising for prenatal tests typically pitch the product as a way of ensuring “healthy babies.”

Bias against people with disabilities is not limited to prenatal clinics. It also manifests in genetics clinics where patients and families come for diagnosis and management of congenital and genetic conditions. What, you say? No way. Medical geneticists and genetic counselors are being helpful. We are figuring out what their medical problems are and helping them manage, adapt to, and live with them. We fight and advocate for them.

Yeah, that’s true and we damn well better be doing that stuff. I never met a genetics professional who wouldn’t charge into Hell for their patients. But. A patient visit to a genetics clinic can feel like entering a wunderkammer, a Cabinet of Curiosities, where they are cataloged for their freakishness and pinned in the glass case of a journal article or clinic note. We put them under a clinical microscope to parse out the ways they are different in excruciating detail – the length and shape of their philtrum, the set of their ears, the distance between their pupils, the gap between the first and second toes. Their DNA is analyzed in nano-fine detail in search of pathogenic variants that set them apart from the rest of us. Their rich family histories are reduced to circles and squares that we blacken and mark with death slashes. In effect, clinicians are (unintentionally) doing everything they can to show how patients are different from the clinicians. Geneticists may not be blatant ableists, but they can unintentionally reinforce systemic ableism.

Even the psychological aspect of genetic counseling – what we like to think makes us the ethical antithesis to eugenics – is historically steeped in  prejudice against disability. As the historian Marion Schmidt has demonstrated, the history of psychotherapy around disability is rooted in negative stereotypes. Psychotherapists’ theories were based on the assumption that cognitive and physical disability produces unique psychological disabilities for patients and their families. When psychotherapeutic techniques were incorporated into genetic counseling, it was to help families work through the emotional trauma induced by having a “defective child” so the family could ultimately make “logical choices.” For example, Arthur Falek, the director of the first psychiatric genetics department at Emory University, in a chapter on psychological aspects of genetic counseling in a 1977 genetic counseling text, wrote “lack of guidance and realistic planning in families with genetic disorders can lead to disastrous results.” Or as Steven Targum wrote in a paradigm-shifting 1981 article on psychotherapy in genetic counseling “With the advent of prenatal diagnosis and screening programs to determine carrier status, prospective genetic counseling programs have become a reality. Such counseling may avert much unwanted human suffering. The psychotherapeutic considerations discussed in this paper may be applied to prospective parents who need to anticipate the impact of a defective child on them.”

It’s no wonder that people with disabilities might look at geneticists with a wary eye. Viewed with their lens, we’ve been working to reduce their numbers and label them as disappointments to society and their families, even as we paradoxically advocate for them. Sometimes when we are working to do good we can do bad. It is so deeply rooted in our history and our practice that we have a difficult time seeing it. There are parallels here with White people’s attempts to support Black lives that has often served to reinforce systemic racism. This criticism is difficult for us to accept in much the same way that those who run diversity training programs have found that White people who profess to be non-racist have a hard time accepting that their thoughts, words, and deeds can negatively impact people of color. And, like Blacks in America, people with disabilities have suffered from discrimination in housing, medical care, employment, voting, and education. Laws may grant basic rights to ethnic minorities and people with disabilities, but they still have to fight tooth and nail to get those laws enforced

I am not claiming to be a spokesperson for people with disabilities. I am not in a position to present their views, which may vey well differ from mine. Rather, I am using a historical narrative to try to understand why some people with disabilities may be ambivalent and distrustful of clinical geneticists and genetic counselors. There have been plenty of articles written about these matters, plenty of speakers at conferences, and course work in training programs. That’s all good, but more concrete actions need to be taken. We could conduct more studies on whether there are benefits to prenatal screening beyond pregnancy termination. We can hold more robust and diverse discussions to develop guidelines for deciding which conditions to incorporate into prenatal and carrier screening that are more measured, respectful, and ethically balanced. We need to teach a more honest assessment of our history. We should understand and respect our past but we shouldn’t honor ethically flawed practices like eugenic sterilization by naming awards after their advocates. When we are criticized we need to react receptively, not defensively. We should be as dedicated to these goals as we are to fighting for racial equality. Amen.

 

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Selective Amnesia, Part 2: Guardians of The Gene Pool

A few weeks ago in this space, drawing on the research of others, I wrote about how geneticists have created a collective memory of eugenics in which they put all the “bad” eugenics behind us after World War II and moved on to the enlightened modern era. I discussed how in fact notable historical figures Franz Kallmann, William Allan, and C. Nash Herndon actively espoused eugenic policies from the 1940s through the 1960s. Here, in Part 2, I highlight more connections between the American Society of Human Genetics (ASHG) and eugenics to make it clear that support for eugenic policies and beliefs was common among geneticists. Kallmann, Allan, and Nash were not a lone trio of eugenic stragglers who were still mired in a questionable ethical past.

Let’s start by following the money. Post-WWII geneticists may have claimed to reject eugenics, but they had no problem with accepting money from eugenically oriented funding sources. As Nathaniel Comfort notes in The Science of Human Perfection, eugenic organizations were tapped to fund the establishment of the American Journal of Human Genetics. Part of the funding  for the journal was arranged by the eugenicist Frederick Osborn through the Association for Research in Human Heredity, which was formerly the Eugenics Research Association of the Eugenics Record Office in Cold Spring Harbor, NY. The remaining funds were supplied by Wickliffe Draper’s Pioneer Fund, established in 1937 to be one of the primary funders of eugenic research (it continued to support racist and eugenic research into the 21st century). There was even discussion of using a picture of Charles Davenport or Barbara Burks (a researcher  in psychiatry who spent several years at the Eugenics Record Office and who has a fascinating biography) for the journal’s frontispiece. During the 1950s, Charles M. Goethe, another wealthy eugenics benefactor, sent small annual checks to the ASHG treasurer to purchase gift memberships for students with high IQs and thus good breeding stock “while he [the student] accepts the responsibility of fathering at least 3 children.” 

Post-WWII geneticists took the racist and elitist policies espoused by the most notorious conservative eugenicists and transformed them into a crusade dedicated to reducing human suffering and ensuring the “health of the gene pool.”  Instead of vitriol directed at immigrants and their “defective germ plasm,” geneticists fretted that the human gene pool was degenerating, i.e., our genetic load, as the result of a trifecta of forces including existing mutations that were already part of the human breeding pool, new mutations induced by ionizing radiation due primarily to the proliferation of nuclear weapons, and the relaxation of natural selection in humans due to improvements in medical care and living conditions that allowed people with illness-predisposing mutations to survive and reproduce. They sometimes argued that the very future of humanity hinged on keeping the gene pool healthy, along with cost-savings from eliminating mutant genes. Even James Neel, a strong critic of conservative eugenics, titled his 1994 autobiography Physician To The Gene Pool. If the gene pool wasn’t sick or threatened, presumably it would not need a physician to tend to it.

Of the three factors alleged to be threatening to increase the genetic load, medical geneticists could exercise some measure of control over the existing mutation frequency. They argued that if parents were properly counseled then high risk couples would refrain from having children with genetic disorders, thus reducing the impact of genetic disease on the population. Conversely, low risk couples would have more children, improving the overall gene pool. You didn’t have to make people refrain from reproduction by force or sterilization. You just need to wisely educate them and let them see the light on their own.

There was widespread support among the genetics community for this reframed and reformulated eugenics. Below are illustrative quotes by other ASHG presidents (some of which come from a 1997 paper by science historian Diane Paul):

Herman Muller (ASHG President, 1949; Nobel Prize Winner, 1946): “It is shown that the only means by which the effects of the genetic load can be lightened permanently and securely is by the coupling of ameliorative techniques, such as medicine, with a rationally directed guidance of reproduction. In other words, the latter procedure is a necessary complement to medicine, and to the other practices of civilization, if they are not to defeat their own purposes, and it is in the end equally as important for our health and well-being as all of them together.

Sheldon Reed (ASHG President 1956): “People of normal mentality who thoroughly understand the genetics of their problems, will behave in the way that seems correct to society as a whole.”

Curt Stern (ASHG President, 1957): “In the course of time…. the control by man of his own biological evolution will become imperative…”

James F. Crow (ASHG President, 1963): “How far should we defend the right of a parent to produce a child that is painfully diseased, condemned to an early death, or mentally retarded?”

Bentley Glass (ASHG President, 1967; President of the American Association for The Advancement of Science, 1969), writing in 1971: “Whether advice or compulsion is to be used by society in these cases would seem to rest with the severity of the condition. If the prospective defect is one that would leave a baby a hopeless imbecile or idiot throughout life and a ward on society, or cause it to be born without limbs, or make it otherwise gravely defective, avoidance of parenthood ought to be mandatory.”

You might argue angels-dancing-on-a-pinhead that these statements are not eugenic philosophies sensu strictu. Maybe you could make a half-convincing argument to that effect. But that sounds like denial to me. Davenport, Harry Laughlin, and the other pre-WWII eugenicists would have recognized and supported any of the above pronouncements.

But let me be clear. This is not a simple story of ethically challenged geneticists pushing an intentionally evil agenda. These were good people from across the political spectrum who believed they were trying to do good for their patients and society. Just like us. And, just like us, they recognized the psychological and emotional impact of genetic disorders on patients and families. As the historian Marion Schmidt notes, Franz Kallmann, former member of the German Society for Racial Hygiene who advocated sterilizing the families of patients with psychiatric disease, urged genetic counselors to understand patients’ “fears and hopes, defenses and rationalizations” and to develop an “empathetic understanding of the motives and capacities of the person who comes for help.” Foreshadowing  21st century calls for genetic counseling to be conducted as a form of psychotherapy, Kallmann viewed genetic counseling as “short-term psychotherapy aimed at reducing anxiety and tension,” albeit with the ultimate goal of producing “a well-planned family [that was] indispensable as a biological, social and cultural unit from a eugenic standpoint and a unique source of pride and stability for the individual.”

I don’t mean to imply that ASHG is or was  ever an unethical, sinister eugenic organization. However, as the primary professional organization for geneticists, ASHG’s history reflects the history of the philosophy, ethics, and practice of medical genetics. As much as we may want to ignore that history and keep it safely behind us, it is embedded, if you will, in the DNA of the profession.

In the third and final part of this series of postings, I will trace these eugenic threads up to current day practice to help us better understand the complicated and at times antagonistic relationship between medical genetics and people with disabilities, their families, and their advocates. 

 

 

 

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Will Coronavirus Burst The Genetic Counselor Employment Bubble?

The last decade has been boom times for genetic counselor employment. According to the 2020 NSGC Professional Status Survey (PSS), the number of genetic counseling jobs has doubled since 2010. Students are recruited for positions before they have graduated. The average starting salary for a genetic counselor right out of school is $12K a year greater than the entire profession’s average salary was in 2010. The highest salaries now exceed $200K. A genetic counselor with 5 years of experience can expect to make nearly as much as I do with 37 years of experience. If I were to go back to genetic counseling school and start my career a second time, I would probably be born again as a new counselor with a higher salary than what I currently earn (Hey Program Directors, think about what a headache it would be to have me in your next class!). And the 2020 PSS projected an even rosier outlook for the coming decade.

And then our parade got rained on by a storm of evil little droplets of RNA+protein. The US medical care system is facing the paradox of going broke while the urgent demands on medical services have never been more critical. By one prediction, the US health care system will lose two hundred billion dollars in the 4 month period from March to June. Those lap chole’s, knee and hip replacements, cardiac stents, and c-sections really drive hospitals’ bottom lines. It’s hard to believe that the rest of the year is going to look much better. I doubt that the US government will demonstrate the competence, unity, or interest to meaningfully mitigate the health care system’s financial woes, unless maybe New Zealand allows us to borrow Jacinda Ardern for at least 4 years.

It is not likely that genetic counselors will escape unscathed. So last week I informally surveyed the NSGC listservs (aka forums) about how the pandemic has impacted genetic counselors’ jobs. Here are a few replies about what some genetic counselors have experienced so far (anonymity preserved):

  • Partial furloughs
  • Lay-offs
  • Reduction in hours
  • Pay cuts
  • Reduction in non-salary benefits
  • Mandatory paid time off
  • Drops in referrals
  • Changes in job responsibilities from patient care to research and other duties
  • Job offerings withdrawn

It’s hard to know how prevalent these problems are because the “research” design and data have more limitations than a teenager who skipped school to go drinking with her boyfriend and wrecked her mother’s brand new car. But they do get your attention.

Like the virus itself, the impact on employment seems to hop, skip, and jump across the country. Some genetic counselors reported no effects at their institutions. To which I would add – at least, not yet. The health care system has just recently come up for air and many employers have not had the chance to fully assess the financial fallout. Early reports from well-respected commercial laboratories, who employ around 20% of genetic counselors, are worrisome too. Myriad reports that revenue has dropped 20-75% across its battery of tests. Invitae has seen testing volumes start to drop and has laid off some staff. These may very well be temporary setbacks and sales may rebound once the whole Covid thing cools off, whenever that might be. But they are not exactly encouraging signs. I am also curious to hear from our international colleagues about the pandemic’s impact on genetic counseling jobs outside of the US.

Once the worst of the pandemic is over, recovery is not likely to be a smooth and rapidly rising curve, even if – fingers crossed and offerings to St. Roch – the virus doesn’t return with a vengeance. Unemployment in general will be high and fewer people will have health insurance, and thus there will be fewer dollars to spend on medical care.

Christ Appointing Saint Roch as Patron Saint of Plague Victims, by Peter Paul Rubens.

Genetic counseling positions may not be high on the priority list of administrators if or when they look to restore lost positions in the future. In the grand tradition of administrators everywhere, they will look to cut costs and may replace only a portion of the lost genetic counseling positions. Hospitals and clinics may decide to shift genetic counseling responsibilities to other staff, such as medical assistants or nurse practitioners, or farm out genetic counseling positions to lab-based counselors, telehealth services, or even chatbots and videos. Older counselors may be nudged towards retirement. Expect paring back of support staff; executives always seem to forget that receptionists, schedulers, and the like are critical to running a hospital and cutting their salaries amounts to a hill of beans in overall budgets. Layoffs just about always come back to bite employers on the ass, and still they act surprised to find teeth marks on their buttocks.

The effects may even be felt in research funding. The NIH slated ten billion dollars for genetic research in 2020. Next year legislators and funding agencies may be more interested in diverting research funds to infectious disease research, prevention, and epidemiology. It’s hard to imagine someone running for political office on a platform of more money for genetics research and less for infectious disease research.

Oddly enough, current genetic counseling students may be better positioned than more experienced counselors. The salaries of genetic counselors with 5, 10, 20 years of experience can get pretty pricey for employers looking to save money. Why not hire somebody fresh out of school who would be paid a lower salary than a veteran?

I am not sure what the response of the profession can or should be. I think I have to leave that up to wiser minds than I possess. Perhaps the NSGC wants to start documenting the coronavirus job impact in a systematic way and plan a targeted PR push during the pandemic recovery focused on the value of genetic counselors in delivering health care. Training programs may think about scaling back admissions until the impact becomes clearer. Maybe the Accreditation Council for Genetic Counseling (ACGC) wants to slow down the approval of new programs. Genetic counselors may need to be more flexible about what they consider to be their scope of practiced and how genetic counseling services should be delivered.

Or maybe none of this will come to pass and by September we will resume our lives with some semblance of normalcy and a minimum of economic and existentialist wear and tear. I know I sound like Mr. Gloom and Doom, which is not really the voice you want to hear in these dire times. I understand why you might want to cover me in Greek fire, shoot me from a mangonel out and over the city walls, or disembowel me (my imagery is heavily influenced by a book I am reading  about The Crusades, or as they are known in the Middle East, The Latin Invasions). So you can take heart in that fact that, like almost all predictions, there’s a pretty good chance I will be wrong yet one more time. But we shouldn’t stick our heads in the ground in an attempt to protect ourselves when the sky really is falling.


Thank you to Emily Singh for help with graphics.

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Huh?

Lecturing patients is a lousy genetic counseling strategy. It presumes that the genetic counselor has superior knowledge and the respectful patient will listen to our learned words to make a perfectly logical decision about whatever it is they are seeing us about. But people don’t work like that, and while you are busy lecturing patients they are thinking about what to make for dinner that night, noticing the food stain on your shirt, or wondering if you will ever stop that incessant droning. Wise counselors instead prefer to reciprocally engage with patients and work together in symbiotic harmony to help the patient arrive at a cognitively and emotionally sound choice about whether to undergo a test, share information with family, undergo risk-reducing surgery, or whatever else is a critical issue for them. Victory all around; good counseling leading to good patient outcomes, and everyone is content.

Okay, so maybe genetic counseling doesn’t play out like that all the time. But it is a noble goal towards which we strive, however imperfectly.

You try to do your best to respect patients’ values and choices. Nonetheless, you can feel like a failure when a patient makes what appears to be a ridiculous decision. We’ve all been there, in its many permutations. The 55 year old BRCA1 pathogenic variant carrier who declines a risk-reducing saplingo-oophorectomy after she has tearfully confessed her deep-seated fear of ovarian cancer. The patient with a cardiomyopathy who has spent the last 30 minutes explaining that he wants testing so his young adult children can manage their risks accordingly – and then declines testing because he “doesn’t want to burden them with the knowledge.” The 33 year old, a mother of two young children, with newly diagnosed triple negative breast cancer who chooses treatment with antioxidant supplements and dietary changes over chemotherapy. Makes you want to pull your hair out (although seeking professional supervision might be a more fruitful pathway than self-inflicted alopecia).

Your first reaction is shock and disbelief. Huh? Was that patient in the same room as me? Did she not hear anything at all about what we discussed? Is she an idiot? I know you are not supposed to think that your patient is an idiot but sometimes those thoughts sneak in unbidden before your professional filter has a chance to block them. Hopefully that filter will kick in before you actually call the patient an idiot.

Or you may get defensive about it. Come on, lady, I know that I did a good job with you in there. I listened to you, we explored your thoughts together, I checked in regularly to make sure that you understood the key medical issues and how they impact your life. I validated and respected your feelings. I had the same interaction with my previous patient and she chose to have the surgery. How can you not uphold your end of the contract?

Mostly, though, such reactions reflect our personal and clinical insecurities. Any reflective counselor will – and should – have a healthy dose of insecurity and humility. Such seemingly outlandish decisions can be perceived as a threat to your professional ego and competence. What did I do wrong? Obi-Wan Counselor, my role model, would have handled this so much better. If she counseled her, that patient would definitely have chosen risk-reducing surgery. I am so incompetent. But I got news for you – there’s a darn good chance that Yoda-like role models still have many moments just like this. Perfect counselor no one is.

There could be several factors underlying what appears to be poor patient choices. Patients may be grappling with emotionally and technically complicated information that they just haven’t worked through yet and just choose something, anything, to get on with their lives for now. There may be a deeper psychological issue subconsciously driving patient choices, such as dealing with the long ago death of a loved one, confronting one’s own mortality, or fears of medical procedures because, when it comes down to it, who wants to be cut open. The expertise of a more skilled therapist may be required to address the situation.

Also, let’s face it, sometimes people just make dumb decisions, no matter how smart and psychologically together they are and how good your counseling skills are. We all do, at various times. Driving a car after wine and drinks with dinner, engaging in a flirtation or an affair when you are in a committed relationship, smoking cigarettes, crossing the street unsafely, spending money for an 18th pair of shoes when budgets are tight. There’s nothing too bright about any of those behaviors, although you have to be careful if you try to point out that a decision may not seem particularly good. It could alienate the patient, if not done just right. But I would argue that we all have a right to make what seem to be dumbass decisions.

Consider too that it is virtually impossible for anyone to know what will turn out to be a good decision. Any choice that tries to anticipate the future is so inherently complicated and filled with uncertainty that what seemed like a good idea at the time may eventually turn out to be an awful choice, and vice versa. All kinds of unanticipated outcomes or unknowable problems can arise. Serious complications might develop after risk-reducing surgery. Your beliefs, spirituality, perspective, and values may evolve over time. You had sworn off children and then you fall head over heels in love with someone and all of a sudden you want to start a family. You have a test for the sake of your family and then your family decides they really didn’t want the information and wish you hadn’t done it. You spend half your life worried about colon cancer and then you’re a victim of a pandemic. No one knows how the Cosmic Vanna White will spin her Rota Fortunae.

Rota Fortunae - Wikipedia

There’s no cookbook genetic counseling recipe that magically transforms people into rational and emotionally consistent decision makers. People are people in all their splendidly glorious contradictions and sometimes they are gonna’ do what they are gonna’ do. Sometimes we can guide them and sometimes we can’t. And sometimes, even when they don’t know it, they know what they are doing. Or they learn to live with their choices. That’s life and we can’t deny it.

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Why “H.R.3235 The Access To Genetic Counselors Services Act” Makes ACMG Feel Threatened By Genetic Counselors (Again)

In the  United States, genetic counseling services are typically delivered by masters level genetic counselors. Yet Medicare, the largest health insurer in the US, does not recognize genetic counselors as reimbursable providers. No health professional is better qualified to provide genetic counseling than a genetic counselor. Absurdly, then, Medicare’s policy assures that the service is covered ONLY if it is provided by mostly unqualified health professionals. It boggles the mind.

But this could change if Congress passes H.R.3235 – the Access to Genetic Counselor Services Act, along with whatever version winds up in the Senate. This bipartisan bill would allow appropriately certified genetic counselors to be covered by Medicare and to order genetic tests as local licensure permits. The bill has broad support in the medical community. Even the AMA has stated they will not oppose the bill.

So why in God’s name has the American College of Medical Genetics and Genomics (ACMG), the primary professional organization of MD clinical geneticists, made the bone-headed decision to come out against this bill, even when many genetic counselors are members of ACMG? ACMG claims that they would support the bill only if genetic counselors are not allowed to order genetic tests. This is an untenable position, especially in light of the abundance of data demonstrating that genetic counselors not only are savvy about ordering tests but having them involved in the process results in significant cost-savings and increases the accuracy of test interpretation. I might add that there are virtually no equivalent data demonstrating that clinical geneticists bring equal value and expertise to the ordering and interpretation of genetic tests. They probably do but, hey, show me the numbers. Furthermore, the anti-genetic counselor position is contrary to ACMG’s Vision and Mission to “to facilitate the delivery of quality clinical and laboratory medical services to patients and their families…” It’s hard to facilitate testing if  the country’s largest group of genetics providers are excluded from ordering genetic tests (there are roughly 2-3 times as many certified genetic counselors as there are certified clinical geneticists).

I suspect that ACMG’s position stems from both historical and economic factors. The relationship between masters level genetic counselors and clinical geneticists has a complicated 50 year history. When the first genetic counseling graduates entered the job market in the 1970s they were likely to be employed in a Medical Genetics department where they were supervised by a clinical geneticist. Not uncommonly, genetic counselors were viewed by clinical geneticists as lower echelon providers who more or less served as “doctors’ helpers.” Indeed, back then many clinical geneticists argued that genetic counselors shouldn’t even be allowed to call themselves genetic counselors because in their view only physicians should serve in that role. They wanted to wall off genetic counselors from meaningful clinical practice and call them Genetic Associates.  There was also more than a hint of underlying sexism. Most clinical geneticists at the time were older males and 95% of genetic counselors were bright young females – those “girls” just weren’t good enough to do “real” medical genetics. The two professions, though, were in a symbiotic relationship; it would have been nearly impossible to run a large genetics clinic without the labor of genetic counselors or clinical geneticists. One profession could not live and thrive without the other.

With the wider availability of prenatal testing in the 1980s, many genetic counselors found employment in prenatal diagnosis clinics, which were usually run by obstetricians rather than clinical geneticists. Genetic counselors gained a greater sense of independence and professional confidence serving as the genetics experts in these new settings. This expansion of genetic counseling employment beyond traditional genetics clinics was further stimulated by advances in genetic testing for more common conditions like cancer and cardiac disorders in the 1990s. Genetic counselors were not gonna’ work on Maggie’s Farm no more whereas clinical geneticists pretty much kept themselves down on the farm.

As I have described previously, this came to a head in the early 1990s when the then American Board of Medical Genetics petitioned the American Board of Medical Specialties to create an American College of Medical Genetics. This move would serve to increase the prestige and potentially improve reimbursement of clinical geneticists’ services. The American Board of Medical Specialties agreed to do so – but only if masters level genetic counselors were not part of the deal. This resulted in very bitter debates between genetic counselors and clinical geneticists. I have vivid memories of some disagreeable and uncomfortable, uh, discussions at national and local meetings. One clinical geneticist told me at the time that the separation would mark the end of the genetic counseling profession (boy, was he wrong). Ultimately, with the thoughtful but firm guiding hand of the leaders of the National Society of Genetic Counselors, genetic counselors agreed to secede from ABMG. It turned out to be the best thing that ever happened to the genetic counseling profession. Genetic counselors and clinical geneticists thereafter still maintained a professional relationship; after all, many of them worked together. But professionally speaking, genetic counselors pretty much left clinical geneticists in the dust and clinical geneticists are still struggling to catch up. Most genetic counseling and ordering of genetic testing gets accomplished without any input from a clinical geneticist and it gets done quite well, thank you very much.

Incidentally, I would like to remind everyone that  in the 1980s, when the American Board of Medical Genetics administered certification exams to both genetic counselors and clinical geneticists, all candidates need to pass two exams – a general exam that everyone took demonstrating overall knowledge of medical genetics and then a separate subspecialty exam each for genetic counselors and clinical geneticists. In most years that the exam was administered, genetic counselors had higher average scores and pass rates on the general exam than clinical geneticists did. So don’t talk to be me about questioning the competence of genetic counselors.

Economically, clinical geneticists are struggling to survive. Salaries are low and recruitment for fellowships is a struggle. Clinics are understaffed and wait times for an appointment in a genetics clinic can be as long as a year. Worse than running in place, they are losing ground. Thus, AMCG’s position on H.R.3235 gives the appearance of a desperate attempt to protect its shrinking economic and professional turf.

This is not 1980 and there aren’t any Genetic Associates anymore. Genetic counselors are damned good at providing genetic counseling and ordering and interpreting genetic testing. Genetic counselors know their limits; they aren’t looking to perform medical procedures, admit patients to hospitals, prescribe medications and other treatments, or undertake a comprehensive dysmorphology exam. In fact, in many states, local licensure laws already allow genetic counselors to order genetic tests if the patient has a private insurer or Medicaid (but not if the patient is covered by Medicare). I am not aware of any data suggesting that this has negatively affected the practice of clinical geneticists. It’s just made it easier for patients to access genetic testing, simplified navigation of the tortuous pathways patients must go through to obtain insurance coverage for testing, and helped assure that test results will be properly interpreted and integrated into the patient’s health care strategy.

But neither ACMG nor genetic counselors own genetic testing. Most clinicians, regardless of specialty, can order a genetic test. Heck, consumers can order tests themselves online, if they are so inclined. ACMG needs to better serve its membership and patients by adapting to a changing world and developing a different clinical and economic service delivery model. Opposition to H.R.3235 does not help patients, genetic counselors, or, if they cling to a dated view of medical practice, clinical geneticists themselves. ACMG must support H.R.3235 and recognize that genetic counselors play a critical role in the delivery of medical genetics services and testing.

 


You can contact your local congressional representative to express personal or organizational support fo H.R.3235.


Thanks again to Emily Singh for help with graphics.

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