Guest Post: Genetic Counseling Is Like A Soap Opera, by Laila Rhee Morris

Laila Rhee Morris is a genetic counselor in California. She graduated from the Sarah Lawrence College training program in 1992. She loves children, animals, trivia and recycling. Her interests include movies, TV and books that feature genetics.

You could say that I became interested in genetics, healthcare, and soap operas simultaneously. When I was in the 7th grade, I contracted mononucleosis, “the kissing disease,” although, at that point, I was not kissing anyone except the family pets. The fact that a virus was making my white blood cells multiply wildly seems to have sparked my first curiosity about genetics. Mononucleosis completely exhausted me, and my mother mercifully relaxed her 10 hours per week TV rule, which is how I became addicted to soap operas.

After 22 years I find that my genetic counseling sessions can resemble a soap opera. The messy human drama  – and sometimes comedy) – plays out in the sessions, hospital rooms, and can even spill over into waiting rooms. But all this is not for my amusement; my job is to help people pick up the pieces of their lives.

I love to tell people that I once wrote a genetic counseling story-line for a soap opera. About 20 years ago, the producers of the soap opera Loving (ABC TV: 1983-1995) called the clinic in New York where I was working to request the help of a genetic counselor to devise a plot-line whereby their star actress, Susan Keith, could have a pregnancy with an unclear ultrasound finding. I excitedly volunteered right away, correctly guessing that my supervisor, Nancy Zellers, would be too busy to take on this task.

I felt vindicated that all those hours that I spent watching were not a waste and I felt as if, finally, these TV people had come to me to develop a decent dramatic story with a foothold in the real world of genetics. The guidelines were that the character had to have prenatal ultrasound finding where the baby could be normal or could have problems after birth. Susan Keith* played Shana Sloane Vocheck Burnell; she was a pretty actress with mountains of red hair. Somewhere in my devious mind or maybe from an actual case, I decided that Shana should have a prenatal ultrasound that detected agenesis of the corpus callosum (ACC) in the fetus.

Shana went for her ultrasound probably expecting everything to be normal, as most real patients do, and thinking that the only point to this ultrasound exam would be to determine whether she was having a girl or a boy. After the ACC diagnosis, the writers had Shana meet with a genetic counselor. Gasp. Can you think of a single TV show or movie where there has been a genetic counselor character?

The genetic counselor character was featured for one day. The producers made it a point to tell me that they even went to the expense to fly out a veteran (show business speak for “older”) actress from Los Angeles to play the role of the genetic counselor (GC). Oh my, the scene with the genetic counselor was just awful. I did not think to record it and thus nothing is left of my masterpiece.

On the positive side, the actress did look like a GC or at least those that I had encountered up to that point during my training. She was an older, kindly appearing Caucasian woman. My cringe worthy moments started the minute that she opened her mouth and introduced herself as “a genetics counselor,” with the “S.”** Then, she ushered Shana and her partner to her office and sat behind a mahogany desk to deliver the bad news. As Shana sobbed and dropped the entire contents of her purse on the ground, the GC excused herself to go take care of something more important in another room. The GC didn’t even offer poor Shana a tissue as Shana was crouching on the carpet in a puddle of tears. On Loving, Shana’s ACC story line went on and on, drawn out for more weeks than a real pregnancy lasts, until Shana eventually delivered an apparently healthy baby girl.

I also want to point out that the soap operas can be educational. They were some great genetic storylines. The 1980 General Hospital paternity storyline involving the Bombay blood phenotype is featured on an NIH website and on YouTube.

After moving away from New York city 20 years ago, I have no time to watch TV and most of the soap operas have been cancelled. Sadly, my soap opera days seem to be behind me but isn’t being let into our patients’ complicated lives (and helping them) the ultimate human drama?

 

*A different Loving clip featuring Susan Keith can be found on youtube.com at http://www.youtube.com/watch?v=_Iy45gvOXlY Interestingly, this clip features Susan Keith smooching with her real life husband, James Kiberd

** There are some people (Bob Resta is one) who like the “S” in genetics counselor because it sounds as if we are counseling about the field of genetics. I know that it is not an apostrophe “S” but my opinion is that genetics with the S is a tongue twister and makes me sound like a Castilian Spanish aristocrat. I am certain that the original Loving script reflected my preference: the without the “S” variation.

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It’s All About Me

Now that FDA and FTC are cracking down on online genetic testing there are fewer major players in the revolutionary new field of Perfectly Useless Genetic Screening (PUGS). So I thought that I could fill this void by re-branding GeeKnowType, my previous foray into artisanal personalized genetic testing. And voila! The RestaEZ  Gene Panels™ were conceived.

The basic principle behind the RestaEZ Gene Panels™ is that if somebody, somewhere says something is genetic – especially if the source is the Internet –  then enough consumers, er, patients, will believe it and I will offer a genetic test for it.

Here is a  sample of some of the valuable medical information you will obtain from my RestaEZ Gene Panels™:

Restassured – The prenatal test that uses circulating free placental DNA that will assure you that your unborn baby is not gay, obese, gluten-sensitive, or unable to get into the finest college or preschool. Of course, I have nothing against overweight gay men who can’t even go out for pizza with his friends and who barely graduated high school, but, well, you know, parents should have a choice about these things.

UnderAResta – Worried that your adorable baby may be the next Baby Face Nelson? Then insist that your child’s pediatrician screen your baby for XYY, CTNNA2, and MAOA. A portion of the fee is donated to the Restatution Fund, which will pay any legal fees and bail on the outside chance that a random socioeconomic factor might influence your genetically normal child to break the law and affect the subsequent verdict and sentencing.

Restaurateur - Interested in a career as a chef but not sure if you have the palate for it? This panel  – which includes  TAS2R38, TAS1R2TAS1R3, PKD2L1, and PKD1L3  genes – will let you know if you are a supertaster or if you may as well be eating cardboard or truffles for all you can tell. Order this panel and I will throw in polycystic kidney disease testing at no extra cost.

RestaLess Legs Do you think you may have wanderlust but can’t stay in one place long enough to find out? Are you losing sleep because you think that your partner may up and leave you out of the blue and leave you singing the blues? Then DRD4 analysis is what you need. Important – please leave a forwarding address so the results can be sent to you.

RestaLess Eggs - Are you paranoid that your hot new girlfriend will all of a sudden “find herself pregnant,” trap you into  marriage, and ruin your otherwise excellent relationship and sex life? Then have her take the test for The Mom Gene when she asks if you think you two should move in together. No more fretting about lifetime sentences, umm, I mean, commitments.

PRestaDigitation – Whatever happened to The Vapors, Neursasthenia, Hysteria, and all those other diseases that were rampant in the 19th and early 20th century? Well, let me assure you that they are still with us but because doctors could never cure them they instead sold us the line that these were imaginary disorders and magically made them disappear by snapping their fingers and declaring them obsolete. I can  just as easily wave my hands and make these maladies suddenly re-appear in near epidemic numbers; all I have to do is utilize social media to recruit people who think they are afflicted with these serious disorders. Although no genetic markers are yet available for these conditions, I am sure that if I run enough genome wide association studies I will find some linked anonymous markers. This will allow sufferers to receive personalized medical care, such as the water cure, magnotherapy, electrotherapy, uterine massage, and yogurt based enemas provided by spas, asylums, sanatoria, and other major medical centers.

I strongly recommend that anyone seriously interested in their genetic make-up include in their order the RestaTheResults Option. At little extra cost – only 50 cents per nucleotide – you will have access to every single genetic variant in your personal genome, including benign polymorphisms, synonymous variants, and every variant in your non-coding DNA. Because it’s your DNA, damn it, and you have the constitutional and God-given right to know your entire genetic blueprint and the government has no business withholding it from you.

I declare no conflict of interest when it comes to RestaEZ Gene Panels™. Sure, I make money off of the tests but that is beside the point. I am a good person, well-intentioned, guided by sound ethical principles, and I am only trying to make people’s lives better.

 

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NIPS SPIN

Advertising is the art of making whole lies out of half truths. ~Edgar A. Shoaff

Every few years a new screening technology comes zooming down the prenatal pike, sometimes arriving more quickly than we might like. First there was maternal age, with the magical age of 35 as the cut-off. Low maternal serum AFP arrived in the 1980s and the OB community embraced it virtually overnight when ACOG’s Committee on Professional Liability issued a statement that practitioners could be held legally liable if they had not offered this screen to a patient who had given birth to a child with Down syndrome. This was followed in short order by the Triple Screen, The Quad Screen, nuchal thickening, Integrated Screening, etc., each one a statistical notch above its predecessor. The latest iteration – cell-free fetal DNA or Non-Invasive Prenatal Screening (NIPS)  – stands head and shoulders above the rest. Two of our colleagues have already discussed the limitations and strengths of NIPS here on The DNA Exchange.*

NIPS is big, as in global big. One lab makes its brochure available in more 20 languages, from Afrikaans to Xhosa (the pregnancy gods must be crazy, dropping pamphlets out of The Cloud). Tens of millions of women around the world are likely to undergo NIPS in the near future. And pregnant women are a “renewable resource” –  a whole new batch pops up every day and many women will have two, three, or more children. Competition for market share among labs is stiff and there is little incentive to dissuade women from undergoing prenatal screening. It’s not that labs coerce women to undergo screening, advocate eugenic agendas, or run roughshod over personal autonomy. All labs would support a woman’s right to decline prenatal screening and Lord knows they stay away from the abortion discussion. But if enough women decline, then there is no incentive to offer the screen. The companies have something to sell and will spin their product to attract customers.

Which brings me to the subtly misleading implications of the name Non-Invasive Prenatal Screening. Sure, NIPS is non-invasive. But so is ultrasound, AFP, HCG, etc. All of these screening tests are non-invasive and therefore do not carry a direct risk of fetal loss. NIPS  is no different from the rest in that sense. It is superior to other screens in terms of having a very low first positive rates, high positive predictive value, and high sensitivity. But NIPS is still an alternative to other screening tests, not to amniocentesis or CVS.

Yet the websites of companies that offer NIPS communicate a different message that subtly suggests that NIPS is in fact an alternative to amniocentesis/CVS instead of an alternative to, say, the Integrated Screen:

First we thought the PC was a calculator. Then we found out how to turn numbers into letters with ASCII – and we thought it was a typewriter. Then we discovered graphics, and we thought it was a television. With the World Wide Web, we’ve realized it’s a brochure. ~Douglas Adams

The suggestion that NIPS is a diagnostic test is further reinforced by reassuring text in large, appealing fonts – Comprehensive, Accurate, Trustworthy, and, my personal favorite, No Confusion. Such wording conflates screening tests with diagnostic tests. Who could resist a test that boasts to be >99% accurate, especially when combined with images of smiling, beautiful parents and babies so cute that you wish your touch screen would allow you to hug them? It is easy to see why parents might be confused and some genetic counselors feel that 75% of their patients may think that NIPS is diagnostic. Yes, the labs also offer comparison to other screens, information about the conditions being screened for, links to disability focused websites, and acknowledge the role of diagnostic testing. But information does not sell products; images and impressions do.

http://en.wikipedia.org/wiki/The_Treachery_of_Images

The Treachery of Images by René Magritte

NIPS is a pretty good screening tool that can help patients decide if they want to proceed to diagnostic testing such as amniocentesis or CVS. However, the first step in the process of considering any testing should be a soul-searching and difficult discussion between parents and with their care providers about views on disability, parenthood, expectations for their children, and beliefs about pregnancy termination (I can’t prove it, but I am pretty sure that discussion is not taking place anywhere near as frequently as it should). For parents who feel it is important to know the chromosomal status of their baby, the next step is to outline the pros and cons of screening tests, emphasizing that a screen only provides a probability that a child may have a particular chromosomal disorder. The risk estimate provided by the screening test may help parents decide if they wish to undergo diagnostic testing.

One might counter that labs are commercial entities engaging in good old American advertising, which everybody knows is not exactly a strictly honest business. But prenatal screening is not like trying to sell Coke vs. Pepsi or Ford vs. Toyota or Chia Pet vs., well, whatever it is that Chia Pets are in competition with. We are talking about babies, our deepest hopes and dreams, and the core values that define our humanity. This demands a higher standard and this is where genetic counselors need to work with their laboratory employers to elevate the discussion.

 


* Missing from much of the professional  discussion about NIPS has been the viewpoint of people with disabilities, their families, and their advocates. As Rachel Adams points out, the Down syndrome community in particular might feel particularly targeted by a test named Maternit21 – but that thorny topic is for another day.

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Hobby Lobby Sounds Like Fun But It’s Really Yucky Sucky for Genetic Counseling

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Hobby Lobby sure sounds like something that would never harm you. As Ray the Ghostbuster said in Ghostbusters, “Something I loved from childhood…something that could never ever possibly destroy us…”   But sadly, it is true: a threat wrapped in adorableness, Hobby Lobby v Sibelius is the 100’ tall Stay Puff Marshmallow Man of legal cases.

 

On March 25th, the Supreme Court of the United States heard arguments for and against the claim that Hobby Lobby, a privately-held company run by a family with conservative Christian beliefs, should not be compelled to purchase insurance for its employees that includes coverage for contraceptives, as is mandated under Obamacare. Actually the company does not object to all contraceptives, only to those that they consider abortifacients, including IUD’s and the morning after pill. Because this case concerns their right to act in accordance with religious ideology, the question of whether or not these methods actually produce an abortion is moot – it only matters that the owners of Hobby Lobby believe them to be wrong. So while the particulars of their faith mean that some contraceptives would still be available to Hobby Lobby employees, the principle under review, untethered to any burden of proof or objective standard, is far more sweeping.

 

Although the contraceptives issue itself is important, people on both sides have emphasized that this decision will have broader consequences. For instance, advocates for gay rights have seen this as a foot in the door for state-sanctioned discrimination, giving companies the right to refuse service or employment based on prejudice dressed up as religious beliefs. Adam Winkler, UCLA law professor writing in the Huffington Post, describes a number of ways that anti-discrimination laws could be undermined if any employer could claim a “religion-based objection to the law.”

 

This case is something that genetic counselors and the NSGC should be watching with concern, as it is likely to impact our field as well. Employers who object to paying for coverage that includes contraceptives may take a similarly skeptical view of paying for insurance that covers prenatal testing, with the reasoning that prenatal testing is done only to provide the opportunity for abortion. You can (and we will) argue that prenatal testing can lead to therapy or better case management or simple reassurance, but others will assert that the point of prenatal testing is to open the door for termination and, right or wrong, this is an argument that is likely to be taken seriously by conservative justices. If that seems crazy to you, do this thought experiment: imagine that termination is not an option under any circumstances, and then picture trying to get insurance companies to pay for amniocentesis.

 

Why do I think that anti-abortion advocates will target prenatal testing? it’s simple: they’ve been talking about it for years. Remember Rick Santorum, who was for a time one of the frontrunners to be the Republican presidential nominee in 2012? He made a speech during the campaign where he talked about the fact that prenatal testing is included as a fundamental and required part of healthcare coverage under Obamacare rules. “One of the mandates is they require free prenatal testing in every insurance policy in America. Why? Because it saves money in health care. Why? Because free prenatal testing ends up in more abortions and therefore less care that has to be done, because we cull the ranks of the disabled in our society.” This speech shocked a lot of people in the field when it hit the presses, but it didn’t shock his Christian Alliance audience at all. This doesn’t come from nowhere. Prenatal diagnosis is on the radar of the anti-abortion movement in the United States, which is why Hobby Lobby should be on ours.

 

Want more proof? How about the law passed in North Dakota last year, which prohibits abortion for sex selection or genetic defect? This statute has gone unchallenged in large part because it is almost impossible to enforce, as opposed to — say — the law restricting all abortions past six weeks gestation, which was passed at the same time and (understandably) got the lion’s share of the press. But the genetic abortion law, first of its kind, is a clear manifesto expressing the intention of those who oppose abortion to limit the ability of women to terminate for cause. And t that end, eliminating coverage for prenatal testing is a far more effective tool than trying to pass laws that require prosecutors to prove something about a woman’s state of mind.

 

This is an issue that isn’t going away. In fact, I predict it’s going to get worse. Why? Because we are getting better at what we do. Keep in mind that all our steps forward (better sensitivity, better specificity, earlier results, less invasive testing) are threatening to a mindset that sees prenatal diagnosis as an ever more efficient way to identify and eliminate vulnerable individuals. When ACOG revised its practice guidelines in 2007 to increase the number of women eligible for prenatal testing, columnist George Will wrote, “what is antiseptically called “screening” for Down syndrome is, much more often than not, a search-and-destroy mission…” Will, the father of a son with Down syndrome, bemoaned the change in practice precisely because it would be more effective.

 

I know, not because I am psychic, but because I have had this conversation before, what genetic counselors will say when this line of attack is launched. First, they will talk about their own commitment to be supportive of all choices for their patients, including the choice not to terminate, which is incredibly important to your patients but doesn’t matter at all to anti-abortion activists.  They don’t care if you are a good counselor, or a good person, since it doesn’t change the fact that a large percentage (how large; under dispute) of all those who receive a diagnosis of Down syndrome, for example, will choose to abort. Second, they will argue that prenatal testing has a value beyond the opportunity to terminate, which is true but a bit disingenuous for the same reason as above. Prenatal testing puts termination on the table as an option.

 

What I don’t like about this defensive posture is that it implies that giving families the option to terminate is not a good enough reason to do testing, or that we are unwilling to champion it as such. I don’t think this is how most counselors feel, but it is natural to try and tiptoe around the sensitivities of others, especially when those sensitivities are emotionally charged and involve a lot of judging – judging of us, and of our patients, whose feelings as well as medical options we would like to protect. But ultimately I think it is a better and stronger position to argue on behalf of what we do without defensiveness. We shouldn’t base our case for prenatal testing on the need to provide reassurance or how it improves prenatal care because those are not our best arguments and it makes us sound ashamed.

 

And meanwhile, stayed tuned on Hobby Lobby, where a decision is expected in early June.

 

 

 

 

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It’s A Slippery Slope. Get Over It.

This week, the FDA is holding hearings to examine the use of a new IVF technique that could allow women with mitochondrial disease to have children who are genetically their own without the risk of passing along the condition.  The proposed treatment involves yanking out the nucleus of a donor egg and popping in a nucleus from the mom-to-be.  Studies of monkeys have demonstrated that this method can be used to produce healthy monkeys; studies of humans thus far have demonstrated the potential to create what appear to be viable embryos.  Shoukhrat Mitalipov, the Oregon-based researcher who has done both human and animal studies, is interested in moving to clinical trials – or as Dina Fine Maron puts it in Scientific American, “human clinical trials.”

 

The issue of oocyte modification was debated last year in the UK, where the government has opted to allow nuclear transfer to be used on an experimental basis.  The story got major play in the press there, as it has here, with catnip headlines about ‘3-parent babies.’  There are some serious questions to be answered about the risks – the first studies using human eggs showed an increased rate of abnormal fertilization, although zygotes with an appropriate number of pronucleii seemed to develop normally.  Minimizing the risk of harm to any child born of this technique is an important focus of the regulatory agencies and if we can’t do it safely, we shouldn’t do it at all – which brings me to the other question under debate: should we do it at all?

 

Marcy Darnovsky of the Center for Genetics and Society, a non-profit organization that leans precautionary on the use of reproductive technologies, has been waging a one-woman war against nuclear genome transfer, protesting the UK decision in Nature, circulating a petition to the FDA to decry human germline modification and penning an OpEd for the N.Y. Times entitled “Genetically Modified Babies.”  Darnovsky brings up safety issues but the heart of her objection is the slippery slope argument.  We have informally agreed not to make changes in the germline that will be passed down to subsequent generations – not to tinker with eggs and sperm.  This is a step over that line.  If we do this, what else will we do?  It could, she says, “open the door to further germline manipulations.”

 

Last winter, I attended a panel on the ethics of germline manipulation where participants debated a resolution to prohibit genetically engineered babies.  Lee Silver (Princeton) and Nina Farahany (Duke Law) represented the anti position (i.e., let’s NOT prohibit genetically engineered babies) and won the debate by focusing on – wait for it — nuclear transfer for mitochondrial disease!  Forbid genetic engineering, they argued, and you rule out this potentially game-changing therapy for afflicted families hoping to give their kids a life free from the burden of life-long, incurable disease.  In other words, another slippery slope argument, only the other way round – accept the concept of regulation in any form, let the bureaucrats in, and you cut yourself off from progress and doom families forever to suffering that could have been prevented.

 

The thing is, I am not at all convinced this example – like many other models we construct — represents anything other than itself.  I don’t mean to say it’s trivial.  But mitochondrial replacement therapy isn’t a reasonable stand-in for the complex issues associated with genetic engineering, like trait selection or eugenics.  You can make the case that mitochondria are more like the bacteria we harbor in our gut than they are like nuclear DNA , in terms of how they affect our health and well being.  Gut bacteria have DNA too.  If we gave the 3-parent child a fecal transplant, would we have a 4-parent child?  (Is that a bad thing?  Cool or creepy?) 

 

The problem with slippery slope arguments is that they don’t relieve the obligation to assess each and every situation on its own merits.  They don’t provide some easy moral clarity or regulatory guidelines.  Everything exists on some sort of continuum, whereby you can draw a straight line from the ludicrous to the patently unacceptable.  When does life begin?  It’s a tightrope, with one end tied around infanticide, and the other clasped in the hand of some guy out of a Monty Python sketch singing “every sperm is sacred.”  Every decision we make is about drawing a line.  And every ethical quandary worthy of the name is unique enough that it deserves its own weighing of the pros and cons.

 

Are you concerned about doing PGD for later-onset conditions?  This is a line some people have suggested, between what is a good and a bad use of preimplantation technology.  What if that condition is Huntington’s?  Okay, what if it is a BRCA 1 mutation?  Or what if it is a subtly increased risk of Parkinson’s disease?  Each of these is a very different scenario.  Every family is going to experience those risks differently.  The fact that you can draw a line from here to there does not automatically absolve you of considering the facts at hand in each case, the good that can be done, what stands to be gained, what may be lost.  It’s very hard to take away happiness for one person based on what might (someday, somewhere, possibly, in a related case) happen to somebody else. 

 

The thing is, it would be so much easier if we could find that certainty.  Slippery slope arguments are a plea to make things stand still for a moment, so a person can get their bearings.  Anyone who works in genetics can relate to that sentiment.  But history is itself a slippery slope from a turbulent past to an uncertain future, and we don’t have the luxury of stepping off.  So what should we do about nuclear transfer for mitochondrial disease?  Well, let’s make a decision based on mitochondrial disease and the very sensitive nature of the human embryo, which may not take kindly to this manipulation.  Let’s not make it the last word on anything.  Let’s not pretend we are now for all time choosing to abandon sufferers to their fate, or opting for GATTACCA.  It’s hard enough and scary enough without conjuring up the ghosts of battles to come.

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A Mixed Verdict

A recent $50 million dollar jury verdict in a “wrongful birth” lawsuit in the Seattle area* has caught the attention of genetic counselors, hospitals, patient advocates, and legal experts. The ruling in this case may have both positive and negative implications for the genetic counseling profession. Let me be clear up front – I am not passing judgement on the verdict, the medical providers, the parents, the quality of care, or the laboratory. This case is very complicated and no doubt many details were not publicly reported. Although I know some of the parties involved, I was not directly connected to the case and I have no insider knowledge. Indeed, I did not know about the case until it hit the news.

In 2007 a woman underwent chorionic villus sampling (CVS) because her husband was a known carrier of a very subtle 2;9 translocation. The institution where the procedure had been performed had no genetic counselor working on the day the CVS was performed, contrary to departmental guidelines for complex cases. Somehow the details of the translocation were not clearly communicated to the cytogenetics laboratory. The fetus had an unbalanced translocation that was erroneously reported out as a normal karyotype. The couple continued the pregnancy to term and the misdiagnosis was detected after the child was born. In 2010 the couple sued the hospital, the laboratory, and the physician who performed the CVS. The physician and the plaintiffs entered into a “High/Low” agreement  in which the defendant agrees to pay a minimum recovery in return for the plaintiff’s agreement to accept a maximum amount regardless of the outcome of the trial. The medical center and the laboratory  were held equally responsible for the $50 million payout, with half the money going to a Guardian ad Litem for the child to pay for his medical care and other expenses and half going to the parents.

The core argument of the plaintiff’s lawyer was that the error would likely have been prevented if a genetic counselor had overseen the patient’s prenatal testing to assure that the critical information about the translocation was clearly communicated to the laboratory. The medical center had reduced the genetic counseling staff despite pleas from the maternal fetal medicine specialists and in the face of growing patient volumes and increasing net revenue. Lawyers for the plaintiff further claimed that the medical center and laboratory did not follow Error Prevention and Quality Management Policies and that the misdiagnosis was the result of a systemic failure. These arguments were important to the extraordinarily large size of the award; the missed diagnosis was attributed to “true negligence” rather than a one-time human error.

The outcome of this case can be beneficial in several ways for the genetic counseling profession. The jury acknowledged the critical role that genetic counselors serve in the delivery of medical care. For genetic counselors trying to justify their positions and salaries can now also argue that their institution’s legal vulnerability can be dramatically reduced by having an adequately staffed genetic counseling service. After all, genetic counselors’ salaries are a pittance in the overall hospital budget and pale in the face of multi-million dollar legal damages. Genetic counselors served as expert witnesses for both the plaintiffs and the defendants, further enhancing the profession’s status.

On the other hand, the verdict did little to improve the rocky and complicated relationship between genetic counselors and people with disabilities, their families, and their advocates. From the perspective of many in this group, prenatal diagnosis and selective termination are bright shining examples of society’s intolerance of people with disabilities. Because genetic counselors are integral to the delivery of prenatal diagnosis services, we are criticized for being part of a larger social and systemic bias.

Genetic counselors counter that they do not direct patient’s decisions, only support them. Genetic counselors are all too familiar with the gut-wrenching, emotionally draining process that patients go through when they decide to terminate or continue a pregnancy in which the fetus has a chromosomal imbalance. And in many situations, genetic counselors serve as advocates for people with disabilities and their families. But this defense does not hold water with those who argue that the very existence of prenatal screening is an insult to people with disabilities who, after all, do not see much in direct benefit from NIPS, amniocentesis, CVS, etc. What positive message can someone with disabilities find when half of the fifty million dollar award was for pain and suffering of the parents, and the very justification of the life of someone with disabilities is called into question when he or she is labeled “a wrongful birth?”

For now, we live in a society where women have the hard-earned right to terminate a pregnancy for whatever reason they choose (although the ability to act on that right can be severely hampered by socio-economic status and governmental policies). Genetic counselors line up behind the defense that they nondirectively help women to act on this reproductive freedom. Disability advocates are often avid supporters of reproductive rights too but do not feel that prenatal testing is necessary to the expression of reproductive freedom and point out that society’s negative view of disabilities and unwillingness to allocate appropriate resources further worsens the effects of disabilities. The two sides seem to be at an impasse and the fact that genetic counselors might applaud this court’s decision may only further contribute to this impasse.

We cannot ignore the voice of our critics.  I am not sure what the solution is. Prenatal diagnosis is unlikely to go away unless abortion becomes illegal again. If genetic counselors suddenly decided to pull out of prenatal diagnosis services, I suspect that informed patient decision-making would deteriorate and people with disabilities would lose one of their few potential advocates in the prenatal system.

As a profession and as individuals we need to reach out to our critics and find some common ground, such as the recently developed Open Lines forum where disability scholars, genetic counselors, parents, and people with disabilities can openly and safely discuss their perspectives. Surely the two sides are not as dysfunctional as the US Congress. It will be painful and difficult, but great achievements often require great suffering.

* – King County (Washington) Superior Court Case # 10-2-43289-2, Judgment Record # 13-9-35173-6 & 13-9-33521-8

Note: Some of the information in this posting is based on an article written by the plaintiffs’ lawyer (Gardner T, “Significant verdict in wrongful birth suit” Trial News, January 2014, pp. 9-11).

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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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