Party Pooper?

The Annual Education Conference (AEC) of the National Society of Genetic Counselors offers a balanced mix of the academic, the clinical, the professional, and, perhaps most importantly, the social. Some of my most cherished professional relationships were formed at the AEC after I struck up a conversation with a genetic counselor who I had not previously known but who wound up sitting next to me in the audience, joined me on a panel presentation, came up and asked me a question after a talk I gave, or perhaps most commonly, unwinding at a bar after a marathon of lectures and workshops. Professional demeanors discarded, guard down, shoes off at day’s end, sipping an interesting beer or a fine single malt Scotch, you can easily become BGCCF (Best Genetic Counseling Comrades Forever). Sometimes I can’t remember a blessed thing I heard all day at the AEC but that post-plenary bar conversation often opened my mind to new and exciting ideas and warm companionship.

Capitalizing on the social networking aspect of the AEC, some corporate sponsors have taken to hosting evening parties and dinners. Maybe it is just my imagination, but the number of these soirees seem to have increased over the last few years. Free food, a generous open bar, genetic counselors eager to socialize and compare notes – what a great way to live it up on our meager travel budgets, freed from the worry of trying to justify several glasses of wine when you submit your receipts for reimbursement. So who can complain?

Well, me, for one.

Okay, so I admit to being an ethical stick in the mud who can suck all the fun out of the dance hall. But now that we have acknowledged yet another of my social failings, let me pose this question for discussion – Is it appropriate for genetic counselors to accept free fare provided by corporate sponsors at the AEC, particularly at non-educational activities?

Stick In The Mud Bobby

Stick In The Mud Bobby

To be clear – I am not taking the corporate sponsors to task. They are businesses, and doing business is what businesses do. With so many labs competing for our samples, they should and will do whatever ethical actions it takes to keep their genetic counselor customers happy. If we told them they would be more likely to get and keep our accounts if they donated that money to Action Against Hunger instead of catering to slightly hungry genetic counselors who want to party a little, I am sure they would do that (not to split hairs too finely, but, all else being equal, selecting a lab in part because it participates in what you consider to be ethical practices such as donating to charitable organizations based on the company’s ethos is different than using a lab because it donates money to feeding clinicians at a conference). The ethical burden is on us, not the sponsors, who are responding to a demand that we have – silently? – created and fostered.

I can already hear the complaints of “Oh Jeez, Bob, can’t you just let us have a good time? I mean it’s just a few drinks and some good food. I give that lab a lot of business. Why can’t I get an occasional treat out of it? So I am nibbling on shrimp atop a round of fried polenta topped with basil pesto while sipping a glass of Nebbiolo. Enough with your puritanical ethics already. Really, what harm is gonna’ result?”

Puritan Bobby

Puritan Bobby (not my real wife)

Perhaps none. But is a practice ethical until harm results? What would patients think if they knew that the very labs that were analyzing their specimens were also providing us with food and spirits? Maybe many of our patients would not care, and might even be slightly envious. But other patients might be surprised if they learned that the lab where you sent their specimens to be analyzed was also wining and dining you. Or what if one day a lab became embroiled in some financial funny business or God forbid a scandal from sub-standard laboratory practices and word leaked out that the lab was in the practice of courting counselors with culinary baksheesh? We would feel awfully awkward and might appear to be guilty by association.

One could legitimately ask whether an occasional gift of food and wine really affects our decisions about which labs we use. Probably many practitioners would deny it or suggest that it does not affect their decisions but may sometimes affect their colleagues’ choices (“I’m very ethical and would never let a glass of wine stand between me and my patients’ best interests. But maybe that is not so true for a few other genetic counselors.”). On the other hand, it is hard to believe that labs would spend valuable cash on activities that resulted in a loss of business. This stuff must be successful on some level or else they wouldn’t do it. TANSTAAFL. We may not be consciously aware of how these influences work. Vide Blind Spots. Which leads me to pose more uncomfortable questions – Should we include attending a corporate-sponsored after-hours bash in our conflict of interest statements when we publish articles or make professional presentations? Many hospitals and other employers of genetic counselors ban vendor sponsored lunches in our offices, so how is this any different? If the free food and drink is not directly connected to an educational activity, would this be a violation of the Stark Law on the part of the vendor, since  just about all labs receive Medicare and Medicaid reimbursement?

By the way, yes, you can call me Mr. Guilty. I have attended my share of these events, but, after a long discussion with my conscience (who I also met at the bar), over the last few years I have decided to avoid them.

But enough of my thoughts. This is about all of us, not just me. What do the Good Readers of The DNA Exchange think about this? Are there better ways to foster collegial and professional relationships with labs that are transparent and ethical, and that allow labs to maintain and grow their volumes? Complete the admittedly unscientific poll below and also share your thoughts in the Comments.

Voodoo Bobby Doll

Voodoo Bobby Doll

And please, be gentle with your Bob Resta voodoo dolls.


Thanks to Emily Singh for realizing the graphics and to Maureen Flynn for a thoughtful discussion that sparked and helped shape this posting.


Filed under Robert Resta

Masking The Truth?

A recent hereditary cancer multigene panel result got me to thinking again about the thorny problem of incidental findings in genetic testing. My goal here is not to criticize the lab, whose staff was very helpful and open in our discussions, but rather to encourage open debate about the scope of results that clinicians want from genetic testing and how this jibes with patients’ expectations. Our expectations might be quite different from what patients want, and this plays an important part at the end of this story.

My patient was recently diagnosed with breast cancer, and had a family history of breast cancer. One relative with breast cancer had already undergone BRCA testing, with normal results. The family history was non-specific but contained a hodge-podge of cancers that gets you to scratching your head – breast cancer, a primary brain cancer, a non-smoking relative who died before 50 of lung cancer, an aunt who died of some type of gynecologic cancer, and a few other malignant odds and ends. Given her relative’s normal BRCA results, we agreed that she would be best served by multigene panel testing, after a discussion of its potential downsides.

Like 87% of my patients, no cancer-linked pathogenic mutations were identified. However a pathogenic EPCAM point mutation caught me by surprise.

For those not familiar with the genetic architecture of Lynch syndrome, five genes are linked to Lynch syndrome – MLHL1, MSH2, PMS2, MSH6, and EPCAM. The underlying mutational basis is different for EPCAM than for the other 4 Lynch genes. EPCAM is MSH2’s upstream neighbor. Mutations in EPCAM itself do not directly cause Lynch syndrome. Instead, large gene deletions in the distal part of EPCAM result in loss of its poly A tail that should signal the end of the coding region. RNA transcription does not stop, leading to an EPCAM/MSH2 chimera of a transcript. By a mechanism not fully understood, this results in hypermethylation of the MSH2 promoter and absent/reduced expression of the  MSH2 gene product. EPCAM deletions constitute a small but significant minority of Lynch syndrome gene mutations and so labs routinely analyze EPCAM for large deletions.


So why was the lab reporting a point mutation in EPCAM? My first (insecure) reaction was “Well, I guess point mutations in EPCAM cause Lynch syndrome. Just another in the steady stream of new genetic findings that flew under my radar but that everybody else seems to know.” I breathed a small sigh of relief and a temporary break from my professional insecurity when further reading of the report confirmed my understanding that point mutations indeed do not produce Lynch syndrome.

Autosomal recessive EPCAM point mutations are linked to congenital tufting enteropathy (CTE), an uncommon disorder characterized by diarrhea so profound that patients often require ongoing total parenteral nutrition. Clearly my patient did not have CTE nor did any of her children, who were all well past the age when CTE would have manifested. The issue here, as any genetic counselor will tell you, is for the health of her grandchildren. Each of her children has a 50% chance of having inherited the EPCAM mutation. If a child has inherited the EPCAM point mutation and if the child’s spouse is also an EPCAM point mutation carrier, then my patient’s grandchildren from this mating would have a 25% chance of having CTE. Essentially my patient’s multigene panel test was transformed into a carrier screening test for a metabolic disorder for the next generation (The punster demon in me who I cannot control just remarked “Her grandchildren’s risk? Now that’s real NextGen sequencing! Or maybe NextNextGen.”).

Godfrey Hardy

Wilhelm Wienberg

Wilhelm Wienberg

But, statistically speaking at least, the patient should not worry too much about her grandchildren. The frequency of CTE is between 1/50,000 and 1/100,000, which hardyweinbergs out to a carrier rate of about 1/135. Thus, the likelihood that my patient would have a grandchild affected with CTE is 1/2 (the chance that her child would be a carrier) x 1/135 (the chance that her child’s spouse would be a carrier) x 1/4 (the chance that the grandchild would inherit two mutated EPCAM alleles) = 1/1080. Using the time-honored genetic counselor’s trick of reframing, there is a 99.9% chance that my patient’s grandchild will NOT be affected with CTE. Did my patient really need to know this in the midst of her cancer treatment?

I recognize that some patients undergoing multigene panels are still in their reproductive years and this information could be important to them. And one could argue that this situation is no different from other genes included on multigene panels that are also associated with different disorders when they occur recessively – NBN, BRCA2, ATM, fumarate hydratase. But I would counter that those other recessive disorders are qualitatively different situations. The same type of mutations that predispose towards cancer when they occur in the heterozygous state also predispose towards ataxia telangiectasia and the other recessive conditions and so one cannot avoid knowing that the patients carries the mutation. However, EPCAM point mutations are not linked to cancer and thus are not relevant to the reason why the test was performed to begin with. The lab included the EPCAM point mutation because of the nature of their testing platform, which can’t help but detect EPCAM point mutations.

But should the lab have masked the results? Labs mask all kinds of genetic test results, hence the list of incidental findings that the American College of Medical Genetics recommends be reported to patients undergoing whole exome/genome sequencing even if they were not seeking that specific information (CTE is not on that list, though of course this patient did not have whole exome/genome sequencing). From a counseling standpoint, it might be an undue burden on patients to layer on a whole other level of psychosocial concern when they come to us primarily concerned about their cancer risks or treatment options and are not even thinking about their descendants’ risks of having rare genetic diseases. Another downside to reporting EPCAM point mutations is that it increases the frequency of finding variants of uncertain significance (VUS), the problem child of multigene testing. As fate would have it, a few days later another patient’s test revealed an EPCAM VUS.

So after stewing on this and discussing it with colleagues, I was considering asking the lab to mask EPCAM point mutations in the future. But then I met with the patient to review the results. Not only was she not upset, she was excited and grateful about learning the information. She said that she underwent the testing to learn what risks her family faced, and as far as she was concerned, the CTE risk fit into her expectations even though I had never discussed it with her beforehand. Nor is she apparently an outlier. At this year’s ASHG conference, researchers from the Kaiser Permanente Northwest Center for Health Research discussed the results of an ongoing study in which 320 non-pregnant women have been randomized into two groups that underwent carrier testing. 200 women received usual care and 120 women underwent genome sequencing for 750 carrier conditions and ~100 secondary findings. Women in the genome sequencing arm were required to receive results about life-span limiting conditions but could elect to receive results of all or some of five broad categories of findings (serious outcomes, mild outcomes, unpredictable outcomes, adult onset diseases, and medically actionable secondary findings). To date, 90% of those in the intervention arm have elected to receive results in all categories. Patients can’t seem to get enough genetic testing.

Maybe this enthusiasm stems from the excitement and sexiness of undergoing genetic testing, which for most people is a new thing and so there is still lots of gene spirit. Or maybe patients just don’t know enough to not want extensive genetic testing and eventually reality will set in when enough people undergo genetic testing and patients may become more reluctant to learn tons of questionably useful information (although the experience of 23andMe suggests otherwise). Maybe that day will come. But for now, whether genetic counselors like it or not, many – though by no means all – patients want to know a lot about their genetic make-up and want a choice in what they can know, even if it is not of immediate clinical value. The clinical utility of a test does not necessarily equal its emotional utility.

Cost is no longer a factor; until recently, genetic testing would include the minimal number of genes because of the expenses involved. Nowadays, however, it essentially is no more expensive to run 5 genetic tests on a sample than 500 genetic tests. Patients and their families are the primary stakeholders so patient demand and expectations should be an important factor in determining the shape of genetic testing, though genetic counselors should offer guidance through our wisdom and experience.

We also need to include all concerned parties in this discussion, such as the disability community and other patient groups affected by genetic diseases. And we need to serve as a counter-balance to some of the “Rah-Rah Ain’t genetic testing grand” advertising of some genetic testing labs. This will require open minds, finely honed counseling skills, and the development of new educational resources that will help patients better understand the bewildering array of genetic diseases and the strengths and limitations of genetic testing. At the end of the day, genetic counseling is still primarily a psychological encounter between two human beings. Here is where the future of genetic counseling lies.


Filed under Robert Resta

1193 to 4

Prenatal diagnosis of Down syndrome has long presented an ethical dilemma for the genetic counseling profession. As genetic counselors are fond of saying , we strongly support women’s reproductive decisions, including both continuing and terminating pregnancies wherein a fetus has been diagnosed with Down syndrome or other condition. But also in the oath that genetic counselors swear to,* we claim to be strong supporters of the rights and dignity of people with disabilities. The disconnect between these ethical imperatives leaves genetic counselors open to justifiable criticism from people with disabilities, their families, and their advocates. How can we simultaneously support people with disabilities while at the same time participate in a screening program whose primary purpose is to sort out fetuses who have certain disabilities?

The typical response to this criticism is that patients have choices about whether or not to undergo prenatal screening for Down syndrome, and genetic counselors try to be value neutral in supporting patient choices (for the moment leaving aside the economic and social realities that limit women’s choices and that genetic counselors have no control over). One of the purported benefits of prenatal screening for Down syndrome is that it allows couples to prepare for the birth of a child who may have special needs. And as many of my patients’ obstetricians used to say to them, we can be better prepared medically for the baby’s birth. Seem like reasonable points, no?

Well, they do seem like reasonable counterpoints. But this got me thinking – just how much research has been done on the extent to which prenatal diagnosis enhances familial adaptation to a diagnosis of Down syndrome, and how much does it improve the medical and developmental picture for the newborn with Down syndrome? In short, I wanted to know how much benefit people with Down syndrome and their families gain from prenatal diagnosis.

To help answer this question, I performed a PubMed search using these broad terms: Down syndrome, prenatal diagnosis, prenatal screening. I set the parameters to English language articles with abstracts for the ten years prior to September 18, 2015. This produced 1373 articles, 176 of which I eliminated because they were not primarily about prenatal screening for Down syndrome, leaving 1197 articles. I then read the abstract of each article for evidence that the research addressed the benefit of prenatal screening to postnatal adaptation of families or improved medical outcomes for liveborn children with Down syndrome.

1193 articles addressed sensitivity, specificity, assessing test performance, comparison of screening techniques, patient anxiety, ethical critiques both pro and con, program implementation, patient education, economic/cost benefit analysis, circulating placental DNA, maternal serum biochemical analytes, ultrasound markers, psychological responses, termination rates, decision making, etc..

The number of articles that addressed my primary question? Four.

And even this number is a bit of a stretch. Two of the four articles were speculative pieces about how prenatal diagnosis may one day allow options for treatment. These two articles shared a primary author and one article was basically a slight update of the earlier article.

The other two articles reported on the experiences of women who received a prenatal versus a postnatal diagnosis of Down syndrome. One article reported that women had a difficult time with how the diagnosis was delivered whether it was prenatal or postnatal. The other article reported that a majority of women who received a prenatal diagnosis of Down syndrome and continued the pregnancy felt that they would undergo prenatal screening in future pregnancies for emotional preparation.

I recognize the shortcomings of my quick analysis. No doubt I missed a few articles. PubMed search results vary significantly with the search terms and parameters, and I swear sometimes with the phase of the moon (speaking of which, the upcoming eclipse of the Blood Moon/Harvest Moon September 27-28 should be spectacular, though it may affect PubMed searches that are conducted during the event). Abstracts may not accurately convey the research findings. And of course the search does not include articles published in languages other than English or that were published before September, 2005. So if you know of articles that I missed, please point them out in the Comments section below. Heck, do a PubMed search yourself and see what you come up with. Prove me wrong, please.

If we are going to honestly present prenatal screening as a choice, the choices have to be more than Abort or Carry To Term, unless of course we want to make the uncomfortable acknowledgement that the primary purpose of prenatal screening is to avoid the birth of children with Down syndrome. Pregnancy termination is important for many couples and we should support patients in their reproductive decisions whatever their motivations, but we also need to show a wider range of benefits from prenatal screening.

Ten years and not even a handful of published research about the benefits of prenatal screening for people who have the very condition that is being screened for. Come on, we can do better than this. Our patients deserve better. Shame on us.


* – Okay, I admit that I made up the oath part, but it is so ingrained into our core ethos when we are trained that it may as well be the genetic counseling equivalent of the Hippocratic oath.


Filed under Robert Resta

Ohio seeks to criminalize abortion based on a prenatal diagnosis of Down Syndrome. Can they do that? The answer may be more complicated than you think.

This fall, the Ohio State Legislature will vote on a bill that would make it illegal for a woman to get an abortion if she is terminating the pregnancy because her fetus has Down syndrome. If passed – and it is expected to pass – the bill must be signed by Governor John Kasich, who happens to be running for the Republican nomination for president. That should tell you everything you need to know about the chance of a veto.

Ohio is poised to join North Dakota as the second state to restrict abortion from being used to prevent the birth of a child based on a prenatal diagnosis. North Dakota’s law does not specify Down Syndrome, but makes it a crime to perform an abortion that is sought because of a “genetic anomaly.” You might think this restriction is unconstitutional under Roe v Wade — and you might be right about that – but as of today the North Dakota law remains on the books. Abortion rights advocates considered a challenge, but decided that the law was impossible to enforce, and therefore not worth the time and expense.

Beyond the Orwellian specter of a law that parses women’s motivation — and the perversity of allowing abortion only when a fetus is healthy – these laws demonstrate a deeper truth: anti-abortion activists have taken aim at prenatal diagnosis. Rick Santorum’s attack on amniocentesis in 2012 may have been badly articulated, but ideologically like-minded employers have embraced his call to cut off funds for prenatal testing. Genetic counselors may not feel that prenatal testing and abortion are two sides of the same coin, but it is important to understand that the rest of the world sees a clear and causative relationship between testing and termination.

Geneticists are not fortune tellers – a point we are forced to make frequently – and it is hard to predict what will happen in the courts BUT you have to assume these laws would not survive a legal challenge. If it stands it is hard to imagine a prosecution. How do you prove motivation?

Does that mean it doesn’t matter? A recent Bioethics Forum post noted that It seems odd to allow prenatal testing for Down syndrome – which the American College of Obstetricians and Gynecologists has recommended should be offered to all pregnant women – and then deny women the opportunity to decide what to do with the information.” This was meant as a criticism of the law, but there’s amore chilling implication. If you want to prevent abortions based on prenatal diagnosis, you can restrict the right to abortion OR you can restrict the right to prenatal diagnosis. One of these things is unconstitutional. What about the other?

There are objections you could raise. Free speech! Yes, but telling your patient about prenatal diagnosis isn’t going to help if her health plan refuses to pay for it. The sacred doctor-patient relationship! Yes, but remember that many states already have laws requiring doctors to read from a script to any woman seeking termination. In some states women seeking abortion are told, by law, that abortions are associated with breast cancer. Are you surprised to hear about this alarming association? That’s because it isn’t true.

If you believe that a fetus is exactly the same thing as a baby – and despite widespread uneasiness with abortion most people do not – then prenatal diagnosis is offensive. One typical and less confrontational approach to this attack is to talk about the value of prenatal diagnosis apart from termination. This feels like safer ground, but I would argue that it is short-sighted. Even if prenatal therapies improve, and there are some promising things in the works, testing will remain a vehicle for giving couples the option of termination, and when we deny that fact we look cagey and defensive. We open ourselves to the same charges of hypocrisy that we throw at anti-abortion advocates who cloak themselves in the language of the women’s rights movements. “We are just empowering women,” they say of mandated anti-abortion scripts. No, you are not. “We are fighting for women’s health,” they say, of regulations that put abortion providers out of business. No, you are not.

We need to be prepared to make the argument for what we do. Carefully and sensitively, but transparently, and without shame. We help families have healthy children and that’s a good thing and not a bad thing. We help people make the choices that are right for them. People in this field know that restrictions on prenatal diagnosis are not empowering. We know who they will end up hurting – the poor the young, the vulnerable – all the usual suspects. Prenatal diagnosis is not going away anytime soon. But keeping it available to everyone is going to take work and vigilance.

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Filed under Laura Hercher

Guest Post: Sometimes It’s Okay To Fail

by Lisa Demers and Stephanie Snow

Stephanie Snow, MS, CGC has 11 years of prenatal genetic counseling experience. She worked as a clinical site coordinator and genetic counselor for the FASTER study and as a clinical research coordinator for the NEXT study. Lisa Demers, MS, LGC has 12 years of prenatal genetic counseling experience and currently works with Ariosa Diagnostics as a Medical Science Liaison.

The landscape of prenatal screening is changing. The use of non-invasive prenatal testing (NIPT) in clinical practice is already common and is being adopted quickly by generalist obstetricians and maternal fetal medicine specialists. While the cell-free DNA technology is innovative and the impact on patient care is significant, there is a rising chatter about NIPT failures – the 1-8% (depending on the company) of reports that return without a test result. This is a dual issue – there’s the underlying “annoyance” that NIPT occasionally fails to produce a result, and then there are publications suggesting an association between fetal aneuploidy and test failure. The latter is a conversation for another day.

Although these “no call” results frustrate patients and their doctors, the negativity surrounding these failures is surprising. The concept of a test failing is not new in medicine, and certainly not within prenatal medicine. Increasing rates of maternal obesity are just one reason for limited prenatal surveillance, with one study demonstrating that 41% or less of fetal survey ultrasounds on patients with a BMI of 30 or higher were able to be completed on the first try. When it comes to first trimester measurement of nuchal translucency (NT), the FASTER trial noted an overall 7.5% failure rate, either because of an inability to measure or due to inaccurate measurement. In a review of patients within one clinic, where nearly 50% of patients had a BMI over 25 and 25% had a BMI of 30 or more, 4% of patients had an NT failure on the first attempt and of those who opted for a second attempt, 18% failed. Overall in this population, 2.7% of patients did not achieve a NT measurement.

This is not to say that test failures are necessarily bad. When an NIPT test fails, it is often because quality metrics are in place to ensure proper test performance – just as there are standards for NT measurement which are established by the Fetal Medicine Foundation (FMF) and the Nuchal Translucency Quality Review (NTQR) program. An NT may “fail” because a patient presents for screening outside of the appropriate gestational age requirements or because of suboptimal fetal positioning. The nuchal translucency measurement is critical in obtaining aneuploidy risk assessment when combined with serum biochemistry, and even the slightest over or under estimation dramatically impacts clinical care. Such is the case with NIPT quality metrics. These metrics are in place to ensure appropriate risk assessment for the pregnancy, with the most important of these being fetal fraction. Fetal fraction is greatly affected by maternal weight, with obese women less likely having the required minimum concentration of fetal DNA in circulation. Here again, maternal obesity reduces our ability to accurately assess the well-being of a fetus.

In reality, any test failure rate can be a nuisance to a busy clinic. Having patients return for an additional visit is inconvenient to patient and provider alike. However, there are biological and technical reasons for at least some NIPT tests to fail. The thoughtful provider will consider the various metrics involved with the NIPT options and select one that balances high quality metrics (including fetal fraction) and low rate of technical failures.


Filed under Guest Blogger

I Am Curious (About Yellow)

Race is  a particularly salient issue in the current US national discourse. The horror of the shootings at the African Methodist Episcopal Church in Charleston, South Carolina and the controversy around the validity of the claims of an apparently white-skinned woman who identifies as black are but two contemporary examples of the controversial and often ugly history of racial classifications, the racial lexicon, and race relations. Perhaps this is why I was particularly struck by a sentence that I recently chanced upon in an article about the heritability of esophageal cancer: This meta-analysis showed there was a significantly [sic] association between PLCE1 rs2274223 polymorphism and esophageal cancer in yellow race populations [bold not in original]. 

Graphic by Emily Singh

Yellow Race. It has been a long time since I have seen that term in any medical or professional literature other than when I am rooting around in the history of eugenics. In our supposedly enlightened times such terminology is the same kind of bad as Brown Race and Red Race. I am not implying that this marks a resurgence in racism against Asians or a renaissance of racial hierarchies. Indeed, encountering yellow race in these articles was remarkable precisely because of its rarity nowadays.

The authors of the article have East Asian names, and the journal is published in Asia, so I assume that yellow race was not intended to be a racist slur or an ironic appropriation of a pejorative term by the very people it was meant to belittle. The racial vocabulary in this instance most likely stems from the nuanced and sometimes awkward complexities of language translation, cultural differences, and the regretful disappearance of copy editors from journal publishing houses (note the grammatical error in the quoted sentence from the abstract, using an adverb where an adjective is called for). A quick PubMed search yielded several other articles that used the term yellow race; the authors were invariably from countries where English is not the primary language. Not all articles were authored by East Asians; one had Brazilian authors. Several articles were from journals published in non-Asian countries, such as The Saudi Medical Journal,  Human Reproduction (Oxford) and Obesity Surgery, published by Springer, the mothership of the Journal of Genetic Counseling.

Putting aside the contentious debate about the biological reality of race and the appropriateness of using racial classifications in medical, biological and governmental analyses, I am intrigued by the question of why some race-based terms are socially acceptable and why others are condemned. You can use black or white when referring to race without too much eyebrow raising, but not yellow, red, or brown. Some skin color-based vocabulary has been replaced by apparently less offensive ethnic or geography-based but no less vague names like Hispanic or Asian. True, African-American and Western European are also common, but black and white appear at least as frequently in medical, biological, and popular publications. Even the federal government’s  Census Bureau and the annual National Vital Statistics Reports on annual births in the US use black and white to racially categorize mothers. Imagine the uproar if these official reports classified Asians as yellow, Native Americans as red, and Hispanics as brown.

US Census Bureau 2010 Racial Classifications


I have been stewing on this for a few weeks, trying to come up with an explanation. Does it stem from some complicated sociohistorical narrative about the forced immigration of slaves from Africa to the US, compared to the relatively more voluntary immigration to the US from other continents? Is it somehow related to the continuing social effects of slavery, which was not experienced by other immigrants (not to imply that other groups did not experience other forms of abuse and prejudice)? Greater social inequities among blacks in a society where whites are the power group and other groups are “in between” whites and blacks on the social hierarchy? An unstated and perhaps unconscious belief that the two groups are biologically different? The result of conflating race and ethnicity and lack of a clear distinction between race and ethnicity? The shortcomings and biases inherent in any scheme that tries to parse the continuous spectrum of humanity into discrete biological categories? The inconsistent ways that people self-identify their ancestry (see my posting about ancestry in the context of genetic counseling)?

Mostly, though, these sound like half-baked explanations. Perhaps it is just a stochastic linguistic persistence with no underlying rational explanation. Aluminum foil is still often called tin foil even though it hasn’t been made from tin since World War II (of course, aluminum – or aluminium, outside of the US and Canada – foil is less emotionally charged and socially complex than racial terminology).

Really, though, I don’t have a good answer. But I am interested to hear what the Good Readers of this blog have to say about it.


Filed under Robert Resta

Can You Put A Rush On That? The Ethics of Triaging Test Results

“Please hurry my test results. This is very important information for me.” It makes me wince every time I hear it. And genetic counselors hear it often. There are times when I don’t want to answer my phone because I know it is going to be that patient calling yet again, or the spouse, or the physician, demanding Results! NOW! The request is perfectly understandable. The patient is drowning in anxiety, desperate for a lifesaver. Sanity overboard! Please rescue me from this turbulent sea and please, please do it before I go under. Some desperate patients have even offered cash under the table to grease the wheels. Your heart goes out to them and you want to do whatever is superhumanly possible to help. It wreaks havoc on a genetic counselor’s compassion center.

How should we respond to such pleas? There is the standard reply “Your results are critical and we will do everything possible to ensure that you receive them as soon as possible.” But that response begs more questions – How quickly will the results come back? What concrete steps will you take to ensure that happens? Who decides?

To a large extent, turnaround times are dictated by factors beyond anyone’s control. Cultured cells grow at their own rates, no matter how much voodoo powder we sprinkle into the culture medium or whatever sacrifices we make to propitiate Anaphasia, the goddess of mitosis (I swear that culture times are directly proportional to patient anxiety – the greater the anxiety, the longer the culture time). Amniotic fluid cultures are forever generating random Insane Clone Posses, which prolongs analysis time. New technologies like NextGen sequencing often identify unusual variants that need to be sorted through before deciding if they are the real deal or not. Thus, suggesting to patients that we will hurry their results  is being dishonest when we know full well that we have limited control over the process.

And don’t get me started on giving preliminary results to a patient. This should just about never be done. There are good reasons why labs don’t call out results until they have been thoroughly checked and rechecked. Anything less than an absolutely certain result does not do patients any favors whatsoever. A rushed result is a useless result, and only gets you a reservation at Heartbreak Hotel. “Uh, did I say that preliminary result was normal? Well, um, now that we have completed the analysis….”

Graphic by Emily Singh

But in some situations it is possible to nudge along a test result. Usually this means analyzing the sample out of sequence. Instead of First Come, First Served, it’s Most Anxious, First Served. So who is Rush Worthy?

There are a few situations wherein most of us would agree that speed if of the essence, where a matter of days is critical. A patient who has a highly suspicious ultrasound and undergoes amnio at 20 weeks or later, awfully close to the 24 week termination cutoff for a patient considering this option. Patients with a history of suicide attempts or suicidal ideation. In the NICU, on a case by case basis. In oncology, perhaps patients with cancer who are trying to make treatment decisions like mastectomy or colectomy deserve some precedence over unaffected patients for whom surgical time pressures are less critical. But even there, which woman with breast cancer is more important than the others? Just about every patient wants that cancer out yesterday, even though for most patients waiting several weeks or more doesn’t change prognosis. Should the criterion be clinical stage? Nottingham score? High grade vs. low grade DCIS? Triple negatives? Trying to figure this out, as Rev Tevye sings, “would cross a rabbi’s eyes.”

There are some cases where it is never ethical to leapfrog the results line. Putting a co-worker, friend, or relative at the head of the queue. Giving special consideration to celebrities, physicians or their spouses, politicians, or people of great wealth or power. The patient going on vacation and who would like results back soon so that the vacation “can be enjoyed.” Labs offering to charge more in return for a quicker turn around time (unless it was ethically justifiable in a particular situation and it resulted in extra lab costs). Wrong, wrong, wrong, wrong. Always.

Really, though,  ethical justification for analyzing a patient’s sample out of sequence is a rara avis. Yes, a patient may be trying to make an important decision, but just about every genetics patient is trying to make a life-altering choice. Yes, a patient may be terribly anxious, but why and how should anxiety be given ethical weight? Lots of patients are anxious. It is impossible to say which patients are more “deserving” based on anxiety. And why should calm people be penalized for not expressing anxiety? (God bless them, though, for their serenity).

Communicating this to patients is difficult, to put it mildly. You don’t want to sound cold-hearted and insensitive and just say “No, sorry, can’t do that.” The wise counselor will try to validate patient anxiety, encourage them to express it, and emphasize that the lab will do everything ethically and humanly possible to provide an accurate (emphasis on accurate; rush = greater inaccuracy) and timely result. Providing assurance that they will be contacted as soon as the result is complete, working out the details of who and when to call, and verifying contact information shows that you are concerned and supportive. Set realistic expectations on the range and uncertainty of the turn around time and explain that rushing results is largely beyond human control. It can sometimes be helpful to put the situation in context – there are many men or women in their exact same position and the lab is doing its best to make sure that every patient is treated in the same way.

Of course, many patients will stay anxious whatever you say to them. Anxiety is largely resistant to treatment with logic, reason, and compassion. It is the price our profession pays for labeling patients as High Risk and putting them in the psychologically vulnerable position of having to confront their mortality and their darkest fears about themselves or their children. But they would be even more upset if they were told that their results are taking longer because the lab decided to analyze some other patients ahead of them. Fairness, honesty, and equity must be our guides.




Filed under Robert Resta