Who Decides What Patients Need to Know?
The American College of Medical Genetics and Genomics (ACMG) released a report on "incidental findings" in genetic tests on March 21, and kicked up a storm of controversy within the field of medical ethics. Their recommendations are more nuanced than some initial reports suggested, but they deserve wider discussion than they have had so far.
At issue is the question of what to do if genetic testing for one reason shows up data that could be relevant to another condition. The report is titled "ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing Report" [pdf]. That led to some headlines suggesting that patients should be told all such results, but MIT Technology Review had perhaps the most accurate:
Doctors Should Tell Patients About Some, But Not All, Unexpected Genetic Findings
The ACMG report only discusses mutations in 57 specific genes that are associated with about 5 kinds of disease (see this summary by Ricki Lewis in Scientific American). Nevertheless, it ventures into very controversial territory (as discussed in Nature News), attempting to bridge the gap between what it calls "genetic libertarians" and "genetic empiricists."
The genetic libertarians "feel that patients have the right to full and complete accounting of all possible risks." The empiricists are more skeptical about most disease-gene associations and believe that "it is irresponsible to create the psychological burdens of being a 'patient in waiting.'" The report tries to balance these viewpoints, but no one seems satisfied.
Certainly, neither group is likely to be reassured by headlines such as this (the text is more subtle) at the Genomes Unzipped blog:
No choice for you
Another pithy reaction to the recommendations, quoted in the March 29 issue of Science (abstract; full text behind paywall), comes from bioethicist Susan Wolf, on providing genetic data to patients:
The fact that I support offering them does not mean I support inflicting them.
A separate, major source of concern is that the recommendations explicitly apply to children. This on its face seems to contradict the guidelines issued by the same body (along with the American Academy of Pediatrics) only a month earlier. The Science article explores these inconsistencies; the latest report's authors find a distinction that at least some of the authors of the previous one do not recognize.
If nothing else, ACMG has demonstrated how hard these issues are, and thereby how important it is that this conversation continues. Theirs is a "pioneering effort" as Muin Khory, founding director of CDC′s National Office of Public Health Genomics, told Nature. But really, as the ACMG working group acknowledges, it's only the start of the discussion.
Previously on Biopolitical Times: