Genetic Tests: Who Should Know and Who Should Tell?
In March, the American College of Medical Genetics and Genomics (ACMG) released a report on "incidental findings" in genetic tests [pdf, discussed here], which is continuing to attract the wider discussion it deserves. Essentially, it said that doctors ought to tell patients about some (not all) unexpected genetic results. This proved so controversial that ACMG has released a formal "Clarification" [pdf] of its position, which has not fundamentally changed.
This debate involves issues at the heart of the implementation of genomic medicine. It raises major questions of patient consent, and challenges established principles about testing children for late-onset conditions. It also suggests the possibility of unnecessary medical interventions, and perhaps even difficulties in obtaining a medically needed genetic test if a patient is unwilling to be presented with findings that are not directly relevant. Some initial reactions were detailed in our April 2nd post, and GEN had a summary of the debate as it stood in early May.
Then Science published a pair of articles on the subject, one essentially supporting the ACMG position (abstract; two of the eight co-authors were also members of the ACMG Working Group), the other describing it as misguided (abstract; by Susan Wolf, George Annas and Sherman Elias). John Lauerman of Bloomberg interviewed several of the authors, among others, for a discussion of the controversy.
Meanwhile, even broader issues about genome sequencing are attracting attention. The European Society of Human Genetics (ESHG) is taking a more cautious stance than the ACMG. Professor Martina Cornel, chair of the Professional and Public Policy Committee, is quoted in the press release:
It is preferable to use sequencing or analysis specifically targeted at a particular health problem to avoid unsolicited findings, or those that cannot yet be interpreted, which can cause considerable anxiety to patients and their families. Clear guidance on how to deal with such findings is needed.
The emphasis in the current ESHG recommendations on "Whole-genome sequencing in health care" (available, free, at the European Journal of Human Genetics) is more on developing than promulgating guidelines. For instance, Point 5 (of 11) reads:
Guidelines for informed consent regarding diagnostic testing need to be developed. Patients' claims to a right not to know do not automatically over-ride professional responsibilities when the patient's own health or that of his or her close relatives are at stake. Patient groups could provide important input into how this should be handled.
The background document ESHG developed (same journal) is titled:
The 'thousand-dollar genome': an ethical exploration
This covers the topic quite broadly, and seems likely to be a valuable resource for analyzing what it calls "potentially far-reaching consequences, not only for future developments in healthcare, but also for individuals and society as a whole." As if to emphasize the importance of this topic, the BMJ just published another pro-and-con pair of articles: "Should we sequence everyone's genome?" Yes or No.
One final important point was raised by Megan Allyse, who co-wrote a critical analysis of the ACMG recommendations with Marsha Michie [pdf], and told GEN that that "there is already a significant shortage of qualified genetic counselors in the U.S. and it is by no means clear that the existing supply could meet this additional demand." Indeed, according to GEN:
At press time, the American Board of Genetic Counselors counts 3,026 certified professionals among its ranks. For the sake of comparison, the U.S. National Cancer Institute estimates that 232,340 women will be diagnosed with breast cancer this year.
Under any likely scenario, we're going to need a lot more counselors.
Previously on Biopolitical Times: