For with this detection there arises new lines of approach in the field of preventive medicine, and the sociological consequences may be far-reaching.
– James V. Neel, from his 1948 plenary lecture, “The Detection of The Genetic Carriers of Hereditary Disease”, delivered at the first annual conference of the Human Genetics Society of America (which eventually changed its name to the American Society of Human Genetics)
The technical advances in genetic testing over the last 5 years have been stunning. Much of what I thought of as Not Going To Happen For A Long Time has now happened yesterday. Along with these breakthroughs is the unstated but increasingly common suggestion that everyone should taste the fruit of testing in Gregor’s Genetic Garden of Eden.
In the old days (like a year or two ago) only a small portion of the patient population were thought to be candidates for genetic testing, those for whom it made medical sense and who were emotionally ready for the ramifications of the knowledge. Genetic counselors used their skills to help patients select the appropriate test and to guide them through the clinically, emotionally, and financially complicated decision-making process. Some chose to undergo testing while others delayed or declined it. We did not really care what patients chose to do; our role was to go through the wringer with them.
Now, though, this model of genetic testing only for the select few may be replaced in the near future by the idea that everyone – healthy, sick, high risk, low risk – should have genetic testing. Population scale genetic testing, with its promises of personally tailored medical care and better health outcomes, assumes that everyone – except for a handful of Luddites, people who do not own mobile phones or have Twitter accounts, Flower Children, and conspiracy theorists – will incorporate DNA into their routine medical care. Genetic testing becomes a foregone conclusion, not an ethically and emotionally weighty matter to be carefully explored and considered. If everyone has a genetic test and everyone carries gene mutations, doesn’t that make everyone a patient?
Think I am overstating my case? Perhaps. Then again, recall the many professional and popular articles you have read that are variations on this theme: The time is near when you will walk into your doctor’s office with an inexpensive DNA Chip that contains your entire genome and that will guide your doctor in choosing the best medications for you and select the most effective screening tests. You will live to be 100, enjoy a lusty sex life, and have healthy children. While the $1000 genome may not be a shining example of truth in advertising, affordable genetic testing is upon us.
A second case in point is the introduction of cheap carrier testing for a huge number of mostly obscure genetic conditions, what has come to be called Universal Carrier Screening. I will risk stating the obvious and point out that the word “universal” implies that the test is for everyone. At $99, it is hard to say no.
A third case in point is newborn screening, which is as close as it gets to universal genetic testing. The conditions screened for with those heel sticks continues to increase but the primary justification is not “treatment before symptoms develop.” Rather, testing is predicated on reducing the number of families caught in The Diagnostic Odyssey, that emotionally and financially draining parental journey to find out what medical disorder their child may have. Based on this premise, there is no logical stopping point for including disorders in a newborn panel. Every genetic disease is a potential source of a diagnostic odyssey. In fact, the rarer the syndrome, the better it is for inclusion in newborn screening since uncommon conditions are less likely to be diagnosed by most practitioners.
Another area of pervasive genetic testing is the recommendation for universal fetal aneuploidy screening during pregnancy, made even more tempting by high detection/low false positive non-invasive tests.
Genetic screening is offered to everyone prior to conception, during pregnancy, and at birth. Testing all adults allows the rest of the camel into the tent.
Genetic counselors are not the driving force behind universal genetic testing, although undoubtedly we have some complicated role. As I have discussed elsewhere, we probably have less influence on patients’ decisions than we think. Larger social, economic, and ethical forces are at play, in much the same way that the introduction of amniocentesis, newborn and carrier screening, and the birth of the genetic counseling profession were all products of their times.
If I am right, genetic counselors are likely to encounter controversies and dilemmas. Ethical values like nondirectiveness and autonomy become less forceful if individually tailored health strategies can help prevent or attenuate serious illness. Think of how many oncologists consider their high risk cancer patients crazy for not having BRCA testing or believe that known BRCA mutation carriers are making poor choices for not undergoing risk-reducing surgeries.
Eugenic concerns, the voice and dignity of the disability community, the psychological sequelae of coping with test results, and worries about the other downsides of genetic testing may be pushed to the wayside by the power of the still unproven assumption that medical spending will become more cost-effective, clinical decisions will be wiser, and everyone will be healthier if their genomes are analyzed. In fact, people with disabilities themselves will likely see some treatment and diagnostic benefits from genomic testing. And because laboratories and lab-based counselors will likely play critical roles, defining and protecting against conflict of interest becomes even more critical and complex.
Both good and bad will come out of universal DNA testing, though it is difficult to predict what measure of each. But so much genetic information available on so many people must give one pause. The history of genetics demonstrates that every advance in genetics is fraught with social complexity and dangers. We may have a more sophisticated knowledge of genetics than our predecessors, but we are neither wiser nor more ethical.
I close by reminding you that knowing our past helps us better understand why we are here and what may happen if we go there. To that end, let me bring to your attention two recently published books about the history of genetic counseling and the history of medical genetics: Telling Genes: The Story of Genetic Counseling in America by Alex Stern (The Johns Hopkins Univ. Press, 2012) and The Science of Human Perfection: How Genes Became the Heart of American Medicine by Nathaniel Comfort (Yale Univ. Press, 2012). The authors, my good friends and colleagues, provide an informed and critical historical understanding of genetic counseling and genetic medicine. Everyone should read these books. It will do your souls – and your counseling philosophy – good.
4 responses to “Resistance Is Futile: A New Paradigm for Genetic Counseling?”
I have many thoughts, as we all do, on this issue, but on this Veteran’s day I am reminded of the few active-duty service members who I have seen who have refused genetic testing for known familial mutations in cancer or cardiac disease genes. How will it change the management of our military personnel if everyone has a known genome sequence when they enter? For better? For worse? Will the military require genome sequencing as part of the initial physical exam? It certainly will take away personal choices for those who want to serve in various duties but are seen unfit because of their predisposition to a disease that might never manifest…
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Just a quick thought on this idea in the context of reproductive carrier screening- “If everyone has a genetic test and everyone carries gene mutations, doesn’t that make everyone a patient?”
In my utopian world, I look forward to the day when everyone knows what mutations they carry, and they know that all of their friends carry mutations, too. No one will ask “am I a carrier for XXX?”, but instead will ask “what am I a carrier for?” I predict that this will go a long way towards reducing stigma and misunderstanding about what it means to be a carrier. On this glorious day, I wouldn’t say that this makes everyone a patient, but, instead, that it makes our carrier patients completely normal. This reality is challenging to relay today when someone is identified as a carrier vs. not a carrier.
Thanks for the interesting post and for the heads up about the books. I for one am not sure if I agree with your belief that genetic counselors don’t influence patient decision making very much. I agree that patient decisions are influenced heavily by factors outside of our office. But I also think that we may influence patients in ways we did not intend to or cannot anticipate. For instance, despite our best efforts to be nondirective, the mere act of offering a test may convey some positive connotation about the test to the patient. As we consider the increasingly “universal” nature of genetic testing I think should recognize that genetic counselors can have a role in shaping what this may look like in practice. Once a test is offered we may have very little influence on whether a patient elects to proceed or not – but I do think genetic counselors can influence policy (at their individual institutions and beyond) about if, how and in what circumstances a test should be offered/made available. We have expertise beyond phenotype counseling and are well suited to help others see the big picture when it comes to the ethical and social implications of expanded use of testing.