A Right Not to Know?
Indeed it does, argues the PHG Foundation, a genomics and health policy think tank in Cambridge, U.K. PHG opposes ACMG’s suggestion that patients not consenting to its minimum list of tests be denied screening for their primary complaint: “This is an example of coercive and paternalistic behavior that is no longer the norm for clinical practice,” Philippa Brice, Ph.D., PHG's communications director, told GEN.
PHG also faults ACMG for failing to require explicit consent for screening beyond the primary complaint, while acknowledging that detailed explanations of each test, and consequences of positive results, are not required. Dr. Brice also said giving discretion to physicians whether and how to communicate positive findings to patients “places an unreasonable burden on the referring physician, given that it was not necessary to have carried out the analysis in the first place.”
ACMG defends its stance, saying it envisions clinical practices will evolve toward the multi-specialty practices of sequencing centers. “The practice model could boil down to having a lab representative, a clinical geneticist who understands the genetics of the variant and the clinical issues in the patient, and their primary care and specialty care provider,” Dr. Watson said.
In an “Incidental Findings Clarification” released May 2, ACMG said it will work in coming months to develop an “open and transparent” means to nominate additional conditions for the list. “We are defining the pieces of information that need to be presented and referenced that inform the various criteria or principles we have been using to identify the conditions that go on such a list of IFs,” Dr. Watson said.
Two bioethicists contend ACMG’s recommendations should balance the benefits with risks from disclosing incidental findings.
“The drafters ignore all the negative potential consequences of giving people additional information. They or their family members might have follow-up testing. There may be additional procedures, even including invasive procedures,” Mark A. Rothstein, J.D., director of the Institute for Bioethics, Health Policy and Law at University of Louisville School of Medicine, told GEN. “It may be expensive. It may be not particularly revealing, and not actionable. These people may then be committed to sort-of a lifetime of medical surveillance of questionable utility. There may be psycho-social harms. There may be economic harms.”
Jeremy Gruber, J.D., president and executive director of the Council for Responsible Genetics, told GEN the presidential commission should not promote increased physician use of genetic tests without accompanying privacy standards: “It’s incumbent upon the presidential commission to be much more specific and detailed about what privacy framework would govern the use of all these new technologies.” In October, the commission recommended better data security and access, and a process for fully informed consent in clinical whole-genome sequencing, but didn’t offer details.
Yet ACMG deserves credit for wrestling with incidental findings ahead of groups representing researchers, physicians, lab professionals, and patients. Until they weigh in, there’s no basis for stakeholders to collectively address the issue. What’s needed is a consensus solution that combines some form of ACMG’s minimum screening with greater patient consent sought by critics, and additional testing as envisioned by PHG, namely serious yet actionable conditions.