Benefits, Beneficence, and Bending Ethics: Questionable Billing Practices for Multigene Panels?

Germline multigene panel testing is the new hot thing in genetic counseling circles. For the last 15 or so years, the equation has read “Breast Cancer Genetics = BRCA Testing,” with the occasional TP53, PTEN, STK11, or CDH1 test thrown in when we thought we were being clinically astute and smarter than the non-geneticsts at Tumor Board. But now, thanks to the discovery of other genes linked to hereditary breast cancer along with the miracle of massively parallel sequencing, we can test patients for a bucketful of genes in one fell swoop without significantly increasing the cost. We debate the wisdom of including some of the genes on these panels, differences in laboratory quality, the clinical value of the information, and – everybody’s favorite – high rates of variants of uncertain significance. These are  important issues but here I want to discuss an ethically gray practice that has not received much public airing – billing health insurers for multigene panels.

Here in the beautiful Pacific Northwest, roughly half of the health insurance companies cover multigene panels. Not uncommonly, patients will request “that new gene test” that their friend told them about. Counseling issues aside, many patients are disappointed when they learn that if they want a multigene panel, their insurer will not pay for it and they will have to fork over $1500-$4100 of their own hard-earned money. But word on the street – and I am not naming names since I don’t have personal experience with this phenomenon yet – is that some patients are managing to get gene panels covered by their insurers even when their carriers have explicit policies against such testing.

I have been told – and again I acknowledge that I do not have hard proof of this – that some labs are running the panels but not letting insurers know that a multigene panel test was performed. This is partially due to the insurance coding game. The billing codes for BRCA testing are the same as the billing codes for multigene panels, so on one level, insurers are blind to the distinction between the two tests and might never know that their policyholders are not exactly getting the test that the insurer paid for. If  labs eat these costs in full, well, that’s their own business decision and not an ethical lapse (although I wonder how many write-offs a lab can absorb while still maintaining profitability).

If this deceptive billing practice is indeed taking place, it is hard to believe that labs are doing this strictly out of the goodness of their hearts or entirely out of concern for the health and well-being of patients. Genetic testing for hereditary breast cancer has become highly competitive and labs are intensely vying for market share since the US Supreme Court decision in Association for Molecular Pathology v. Myriad Genetics opened up BRCA testing to all labsIf labs are engaging in this practice, it is likely because they want to win the favor of major cancer centers that can provide millions of dollars of business.

Billing an insurer for a test when the lab is aware that the insurer does not cover it, and not letting the insurer know which test was actually run, strikes me as dishonest rather than just bending the rules. And if we genetic counselors stand silently by and allow this to transpire, we are accessories to this moral – and legal? – infraction. It may also cause insurers like Cigna to rethink their policy of requiring a consultation with a genetic counselor before approving coverage for genetic testing. We are, after all, supposed to be conscientious about their guidelines when we order genetic testing for their policyholders.


RULES2

Now let me be clear. I am (mostly) a supporter of gene panel testing and think it should be a covered benefit, though I must admit that I am a bit disappointed in the low yield of actionable positive results beyond BRCA. I have spent an inordinate amount of time appealing these policies, with little success. It is frustrating for me and it makes patients unhappy when their insurer does not cover a test that care providers think could be useful.

Sure, we want what we think is best for patients, and yes insurance company policies can be maddening. But that does not provide moral justification for deceiving insurance companies. The ends do not justify the means. Instead, it should put the burden on us to continue to appeal the policies through established channels and to perform research studies that assess the clinical value of testing for genes such as NBN, RAD51C, or PALB2. Insurers have a valid point when they say that there are inadequate data to determine the clinical utility of multigene panel tests for their policyholders.

I hope that what I have been told is incorrect. If so, then we can write this posting off as based on unverified rumors. But if there is some truth to it, then we need to have a hard and thoughtful discussion. I am interested in hearing the experience of others with insurance coverage for multigene panels.

 

- Thank you to Emily Singh for help with the graphics.

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Who The Hell Do We Think We Are? 12 Questions About The Future Of Genetic Counseling

In the prophet business, they laugh at you when your predictions are wrong and chase you out-of-town – or worse – when your predictions prove to be correct. So, at the risk of being tarred and feathered or be made to wear a Scold’s Bridle, I venture twelve questions about possible future scenarios for the genetic counseling profession. Feel free to add a Comment with your own questions (and see how hard it is to be a prophet).

  1. Will our primary role be to serve as interpreters of test results for laboratories and ordering physicians? With the increasing growth of genetic laboratory services and a widespread lack of genetic sophistication among most ordering clinicians, laboratory demand for genetic counselors may far exceed employment in clinics. Besides, why should hospitals spend money on salary and benefits for genetic counselors when lab genetic counselors can provide the expertise?
  2. Might we become consultants for online genetic testing companies, helping plan, develop, and sell their products?  This could be a future where genetic testing is arranged over the Internet through a handful of megalabs, an oligopoly that controls the market. Such lab equivalents of Alibaba and Amazon, would sell gene products – clinical and otherwise – to an international market, where there is no clear-cut distinction between consumer and patient. This is not such an outlandish possibility; consider the connection between 23andMe and Google.This scenario sounds like the basis for a Philip K. Dick nightmare novel.
  3. Could we evolve into educators/communicators for the public rather than individual patients? With genetics predicted to be incorporated into everyday medical care, there is no way we can provide genetic counseling to everyone. But we could become a universal resource, developing and providing educational materials and expertise for clinicians, patients, courts of law, film makers, and just about anybody who has a genetic question.
  4. With institutions wanting to provide cost-effective care with as few employees as possible, along with the ongoing trend of hospital mergers and consolidations, could we become self-employed specialists who serve in consulting roles across multiple health care settings? We might strap on our NSGC issued jetpacks to hop from campus to campus of regional mega-hospitals to deliver genetic consultations on a moment’s notice.
    Genetic Counseling Jet Pack
  5. Will we change our profession’s focus from genotype counseling to phenotype counseling? In the past, a visit to the genetics clinic was necessary to sort through the appropriate genetic testing for patients, since it would be far too expensive to run every genetic test possible. With affordable multi-gene panels and whole exome/genome sequencing, it will no longer be economically necessary to see a geneticist to order “the right tests.” Just throw the whole plate of DNA strand spaghetti against the wall and see what sticks. The job of genetic counselors will then be to figure out what phenotype(s) could be expected from the array of test results.
  6. Will we become health/life style coaches? This is a natural progression from what we are doing now in cancer and cardiovascular clinics. Based on genetic test results we make  recommendations for health care and life style. Followed to the logical outcome, this model could be applied to almost any disease with a substantive, actionable, and identifiable genetic component.
  7. Will we be charged to be guardians of the public’s genetic health? With the introduction of Down syndrome screening of all pregnancies, universal carrier screening, and expanded newborn screening, there will be growing social pressure to “control and cure genetic disease.” This future could easily slide into creepy eugenic territory and provide Nathaniel Comfort material for several more books about the often vague distinction between relieving individual suffering and “population improvement.” This is not such an outlandish idea; James Neel, the great geneticist and a major figure in the early days of medical genetics, titled his magnum opus Physician To The Gene Pool.
  8. Will we be private entrepreneurs who offer our services directly to the public in GeneTruckshopping malls, pop-up counseling clinics, and mobile GeneTrucks,  bringing our services  to the public in non-traditional settings?
  9. Can we be all of the above and still maintain our unique professional identity?
  10. How will training programs properly prepare students for so many futures?
  11. Will there be a perception of less of a need for psychosocial skills? Will we lose sight of the basic truth that any interaction between two human beings is always a psychological interplay?
  12. Will the exploration of the human genome fail to  live up to its promise and hype, it’s low hanging fruit already plucked, and the current fad of genetic medicine replaced by some other medical breakthrough? Who knows, maybe gut microbiomes or epigenetic changes will be the next darling.  Would the genetic counseling profession wither on the vine?
    RIP

 

Special thanks to Emily Singh for her expertise in realizing the graphics in this posting.

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Mary-Claire King (winner of the 2014 Lasker Prize!) proposes a plan for universal BRCA 1/2 testing that is both TOO MUCH and TOO LITTLE

First things first: congratulations to Mary-Claire King, who this week won the Lasker Prize in Medicine for “bold, imaginative, and diverse contributions to medical science and human rights”. The award acknowledges King’s work in the 1980’s, reuniting families with the biological children taken from them during Argentina’s “Dirty War”, and it highlights her role in the pursuit and identification of genes implicated in familial breast cancer. Myriad’s Mormon database may have won them the patent race, but their Rosie Ruiz victory belied the long history of the chase, which King pursued for more than 20 years, stubbornly refusing to believe that pedigrees strewn with cancer were simply bad luck. What seems like common sense now was iconoclasm at the time, and it begs the conclusion that it took a woman in science to take these women’s stories seriously. King’s role in the discovery of BRCA1 was a triumph of independent thinking, as well as brilliance and persistence. You go, girl scientist!!!

 

King used the occasion of the Lasker Foundation’s announcement to publish a call for BRCA 1 and 2 testing for all women at age 30. The manifesto, published in JAMA, decries the current state of affairs, where women are frequently tested only after they get cancer. “To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.” This is a bold challenge, and given the source, one that demands some careful consideration.

 

There are some negatives to universal screening, many of which King discusses. A diminished but enduring problem with BRCA testing is the tendency to produce variants of uncertain significance (the dreaded VUS!). King suggests that for this purpose, we report only unambiguous loss-of-function mutations. Another concern is that our empiric data about the risk of cancer associated with these genetic findings comes primarily from families with a history of cancer – suggesting a possible ascertainment bias. For that reason, the US Preventative Services Task Force recommends testing only in at-risk populations. In response King cites a new study out of Israel documenting increased cancer risk in women with one of three Ashkenazi Jewish founder mutations even among women with no family history of cancer (and amazingly, 50% of all women identified with a mutation had no history of breast or ovarian cancer that would have brought them to clinical attention).

 

But, as King herself recognizes, “major questions arise in generalizing from the results of the study in Israel to population-based screening in the United States or any other country.” That study reviewed only 3 very well-characterized mutations in a single ethnic group with an equally well-characterized risk for breast cancer. It is a leap to assume the results are valid for all variants and all populations. Still the likelihood is high that mutations that disable BRCA 1 or 2 will cause at least some significant increase in cancer risk. Should we be advocating for universal screening?

 

Well, there are a couple of negatives to consider. First, King rightly notes that we can’t hand out results on a huge scale when we aren’t certain what they mean. So that means we are only looking at a subset of BRCA results with the potential to increase cancer risk. Furthermore, her plan reduces the complexities involved in cancer counseling in that it looks only at BRCA 1 and 2, and not at any of the other genes that contribute to overall cancer risk. While this makes universal screening much simpler, it also limits the effectiveness. So while you might make a ‘something is better than nothing’ argument for screening, you have to wonder if this quick and dirty approach will end up replacing a more thorough risk analysis for many women in the higher risk categories. It’s not easy getting women in for cancer counseling now – are they not less likely to seek out genetic counseling if they have already been ‘screened”? Similarly, will physicians be less likely to refer and insurance companies less likely to pay for a more thorough breast cancer risk assessment and panel testing? Not an issue, perhaps, for families with a striking, definitive cancer history– and never an issue for those with their own resources — but beyond this we run the risk of cannibalizing the cancer counseling programs that we have built, which provide a fuller and deeper approach to of risk assessment.

 

Second, the program King describes will not generate the data we need to improve our ability to interpret results of genetic testing for breast cancer predisposition. One of the goals if universal testing ought to be that an investment now would get us out of the too-much-data-too-little-interpretation hole we are stuck in today. On Twitter, response to King’s essay buzzed about the prospect of a massive database of variants:

 Screen Shot 2014-09-10 at 9.12.34 AM

But returning only information on variants we have already characterized will not enable us to make any headway on classifying the rest.

 

Universal BRCA 1 and 2 screening is an enticing idea, and there is no doubt that it will identify tens of thousands of women at increased risk for breast and ovarian cancer, for which we have preventative measures with proven efficacy. But a program at this scale will not provide assessment or counseling at anything like our current standard of care, and the potential harm that could cause for families with mutations in BRCA 1 and 2 as well as the other cancer-related genes that will not be reported must be weighed against what we can accomplish; to that end, a pilot study would put some numbers on the scale. Furthermore, as a project universal screening represents a significant investment in public health. It makes sense for us to consider whether or not such an investment moves the ball forward in terms of improving genomic interpretation, and King’s plan, as envisioned, does not.

 

 

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NEW PROPOSED REGULATIONS ON TESTING FROM THE FDA ARE LONG ON INTENTION AND SHORT ON DETAIL

On July 31st, the FDA announced its intention to regulate both laboratory developed tests (LDT”s) and in vitro diagnostic (IVD) companion devices, and it will soon be asking for public comment on the proposed regulations. Should genetic counselors be among the people commenting? Well yes, as the new rules are likely to affect genetics practice, since many of the tests that look at genetic susceptibility are LDT’s and could be subject to a premarket review by the FDA that will delay or deny the clinical availability of new tests, and a mandatory process of adverse result reporting. The impact will be felt most immediately in cancer settings, where genetic tests that look at tumor DNA for purposes of choosing targeted therapies or predicting prognosis are likely first candidates to draw FDA scrutiny, but eventually the new rules should affect a range of clinical specialties. At stake is finding the balance between too much regulation, wherein it becomes prohibitively difficult and expensive to introduce new tests that can help diagnose patients and personalize recommendations for screening and treatment, and too little regulation, wherein we suspect that our information on the accuracy and reliability of new tests is not adequately accurate or reliable (an ongoing issue, by the way, with non-invasive prenatal testing. See Katie Stoll’s post here and a study, new this week, suggesting that the dreaded false positive result may be more common than test makers have led us to believe).

 

A little background on the two closely related entities that are the focus of new regulations. LDT’s are what used to be called “home-brews”: tests that are used by a single lab and not marketed as a kit or a device. Somewhat by historical accident, LDT’s have come to exist in a regulatory grey area, effectively exempt from FDA oversight. The assumption behind this was that what went on in an individual lab affected only that lab’s patients and that no agency could track every one-off solution engineered by a mom-and-pop lab. As with everything else in 2014, the status quo has been disrupted by new technology – but in this instance the new technology isn’t the magic of Google or whole genome sequencing but overnight shipping. Yes, the world of genetic testing has been turned on its ear by the likes of UPS and Fed Ex.

 

In brief, now that the Pony Express has picked up its game, laboratories can test samples from all over the world in centralized locations with sophisticated and expensive testing capability that isn’t available back on the farm. At the same time, lab tests, including genetic tests and biomarkers like measures of gene expression, play an increasingly important role in making diagnoses and determining treatment. For this reason, the FDA has moved in its determined yet glacial manner to regulate a subset of tests that are considered high or medium risk – those tests which have the potential to alter medical care, and therefore have significant implications if the information they provide is incorrect. This risk-based approach is a measured step – it allows the FDA to continue to use discretion when tests are low risk or experimental or involve a rare disease for which there is no other test.

 

IVD companion diagnostics are tests developed to be used in conjunction with a drug or other therapy – tests that can be used to refine dosages or identify good candidates for a given therapy. Obviously pharmacogenetics is a subset of this broader category of companion testing. Again, the proposed regulatory framework would stratify the tests as high risk, moderate risk, low risk – requiring pre-market approval for higher risk tests, and allowing the agency to exercise “discretion” in low risk situations (discretion is FDA-speak for a wink and a nod). With regard to IVD diagnostics, the FDA intends not just that the tests on offer be confirmed as reliable, but is instituting the requirement that companion testing be included in the development of new therapies as a matter of course. In effect the government is mandating that all new therapies be individualized to the greatest extent possible: When an appropriate scientific rationale supports such an approach, FDA encourages the joint development of therapeutic products and diagnostic devices that are essential for the safe and effective use of those therapeutic products.” The age of personalized medicine is upon us, and the FDA is ON IT.

 

If all this sounds familiar, it only means that you have been paying attention. Since 2010, the FDA has been asserting publically that it has both the intention and the authority to regulate LDT’s and IVD’s. Going back even further, the Genomics and Personalized Medicine Act of 2006, introduced by then Senator Barack Obama, emphasized the development of companion diagnostics, calling on the National Academy of Sciences to recommend incentives and requiring the Institute of Medicine to improve “oversight and regulation of genetic tests.” While the bill was never passed, it is not surprising to see a similar emphasis under the current administration.

 

So, genetic counselors, are we for or against the proposed regulations? Probably the answer to that question is — yes. Like the FDA, most people seem to be in favor of some middle option – regulating everything is virtually impossible and regulating nothing is an appealing libertarian fantasy, but in fact it would put counselors in the uncomfortable position of having to rely on figures supplied by the companies who manufacture the tests. Careful observers like the Genetics and Public Policy Center have been calling for increased oversight for genetic testing for years. Their 2006 summary of a genetic testing quality initiative sums it up this way:

 

assessment of public attitudes shows that the public widely believes that the government regulates genetic tests to ensure their quality and, moreover, that the government should play this role. In fact, however, genetic tests are subject to very little governmental oversight when compared to other health care products. There is no formal approval procedure a laboratory has to go through before offering a new genetic test, and government requirements to ensure that genetic testing laboratories are getting the right answers to patients are minimal. Moreover, there is no government requirement that a test must be clinically valid – i.e., actually relate to a particular disease or risk of disease – in order to be sold.”

 

However, both the American Clinical Laboratory Association and the American Medical Association have reacted negatively to the proposed FDA regulatory strategy. The ACLA pushback comes as no surprise – few entities welcome idea of FDA regulation – and the organization has submitted a petition claiming that only CLIA and not the FDA had authority over LDT’s (the FDA rejects this). The more measured response of the AMA reflects the concerns of clinical care-givers, and may align with the attitude of many genetic counselors:

 

The draft FDA Framework for Oversight of Laboratory Developed Tests (LDTs) announced today, outlines a risk-based approach that raises a number of questions and concerns. 

The FDA proposal adds an additional layer of regulatory requirements which may result in patients losing access to timely life-saving diagnostic services and hinder advancements in the practice of medicine. 

The AMA is committed to ensuring that the proposal that is ultimately adopted by the FDA preserves rapid access to care and medical advancements. 

What makes it difficult to respond to the FDA is that there is a lot of wiggle room left in the regulations as written. High and moderate risk tests will be required to report adverse results and apply for pre-market review according to separate timetables – but the FDA will not define those terms for up to 2 years after the regulations are finalized (Policy and Medicine has a useful chart if you are looking for specifics on timelines). In other words, the FDA has designed a system that gives them room to maneuver – and is asking for respondents to give feedback on the plan without knowing where the agency plans to draw the line. For example, breast cancer susceptibility panels probably aren’t low risk; they are medically actionable and complicated to interpret. Are they high risk or moderate risk? The somewhat hyperbolic letter from the FDA to 23andMe last fall* suggested that the agency believes the fallout from breast cancer risk prediction done badly might be unnecessary mastectomies. That sounds pretty high risk – but is that the perceived reality of counselors who work with these tests?

 

The rare disease exemption in the FDA plan means that whole exome or whole genome sequencing would not be affected, in those cases where the patient presents with an apparently genetic condition that has eluded diagnosis. WES for those with no apparent disease, who wish to use the information prophylactically? I have literally no idea what risk the FDA would assign to clinical versions of genome scanning. What about the genetic testing done for children with autism? These supplement rather than point to a diagnosis and would rarely change treatment but may have a big impact on the parents reproductive choices – is that consequence enough to bump a test from low risk to high risk?

 

I might sound like I am criticizing the FDA, but in fact I am sympathetic to the difficulties inherent in a modulated approach and appreciate that they are attempting to tread that knife’s edge. I do think it makes it difficult to provide feedback, and I would suggest that their policy be reopened for public comment at critical junctures, such as the point at which high, low and moderate risk categories are more carefully defined. Useful commentary now, I would suggest, will need to be far more granular than the FDA regulatory language itself. What tests do you feel work well for you and your patients? Are there tests in use or in the pipeline that concern you? Which ones? Why? Share your concerns here, and I will write up a response incorporating reader response when the draft regulations are posted for public comment.

 

*Note: don’t bother telling the FDA that you are concerned about direct-to-consumer testing, because the agency has already noted that this applies only to testing in a clinical context. No DTC testing will be exempt from review – a footnote to the FDA’s announcement that had DTC advocates screaming foul – for details see Jennifer Wagner’s irritated response at the Genomics Law Report.

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Don’t Look Now

At the bus stop the other day I saw a young man who had no nose. No proboscis, no nasal hypoplasia, no midline facial cleft, no Voldemort nasal slits. Just a deep hole, the circumference of a quarter, in the center of his face. The shock was heightened by encountering him in the clear daylight of a beautiful afternoon, outside of the normalizing context of a genetics clinic.

My mind sorted through possible etiologies. A freebasing accident gone horrifically wrong? A congenital anomaly syndrome whose name was lost in the cobwebs of my brain? A developmental process gone awry? The product of a new teratogen? An extreme case of self-mutilating psychopathology?

My fellow commuters in waiting were either staring directly at him, or, like me, struggling to disguise our rudeness by trying to simultaneously gaze at and just past him. I rationalized my behavior by telling myself that I was doing what any reasonable geneticist would do – trying to fit him into a Dave Smith pigeonhole. But, truth be told, I was gawking at him.

Name That Syndrome. It is a game that geneticists often play when we have the opportunity to observe the parade of humanity in all of its terribly wonderful variety. That exotically gorgeous woman with the ice blue eyes and gray forelock sitting at the bar? I bet she has Waardenburg syndrome. That overly friendly young boy with the starburst iris trying to make friends with every angry airline passenger aggravated by the flight delay? Only a kid with Williams syndrome could have that much faith in the goodness of humanity. That overweight blind child with post axial polydactyly clinging to her bedraggled mother, the weary pair standing on a rush hour bus because nobody had the decency to offer them a seat? I hope her pediatrician had the savvy to diagnose Bardet-Biedl syndrome. And that guy waiting to board the plane who has wide-set eyes, a depressed nasal bridge, a smooth philtrum, and mild syndactyly – he must have something. I wonder if the airport’s facial recognition security software has Gorlin’s Syndromes of the Head and Neck programmed into it?

Context matters. Within the confines of the clinic, it is entirely appropriate for a genetic professional to intensely examine every square centimeter of a patient’s body. But once we step out of the front doors of our medical towers and into the streets, we lose the mantle of medical authority that grants us the social privilege of staring closely at other human beings to look for differences subtle and profound that stray from the norm (of course, variation is the norm).

Separation of personal and professional life is a complex, challenging, and ongoing process. We often have a hard time finding the Off button for our clinical instincts. Like clerics and cops, geneticists can feel like they are never off duty. I struggle with this nearly every day, dancing a tango where I am vying with myself for the lead.

I do my best to justify the social crassness of Name That Syndrome by re-framing it as clinical curiosity.  But it’s not polite to stare; Mom is right once again. On the streets they are not clinical puzzles. They are people with beating hearts who are trying to scratch out a decent life in a hard world. They deserve respect and dignity, not freak stares. If we lose sight of this, we become poorer clinicians and lesser people.

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

By Jim Small

 

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

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

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

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

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

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

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

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

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

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Guest Post: 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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