A forthcoming report in Science magazine argues that patient consent and confidentiality are under fire, after the American College of Medical Genetics and Genomics (ACMG) recently adjusted its formal recommendations to doctors that, for the most part, now leave the patient out of the decision-making process over how much data researchers can mine from their unique genetic codes.
According to a summary prepared in advance of the report:
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a “right not to know” the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients’ rights will continue in an era of medical genomics.
Recent recommendations from the American College of Medical Genetics and Genomics (ACMG) suggest no. On March 22, the ACMG released recommendations stating that when clinical sequencing is undertaken for any medical reason, laboratories must examine 57 other specific genes to look for incidental findings. These findings must then be reported to the clinician and the patient. In an April 25 “clarification,” ACMG said that failure to report these findings would be considered “unethical.” The patient has no opportunity to opt-out of the testing of the 57 genes, except to decline all sequencing. The recommendations also apply to children.
The study, a joint effort by Susan M. Wolf of the University of Minnesota, George J. Annas of Boston University and Sherman Elias of Northwestern University, argues that the all-or-nothing sequencing of a patient’s genetic code would be beneficial, if only the patient could have a say over the “all-or-nothing” part.
“The ACMG’s ‘minimum list [of 57 genes]‘ includes mutations in genes that patients have long been able to refuse testing for, including cancer risk mutations (such as BRCA1) and cardiovascular risk mutations,” the authors argue. But, they add, there are myriad practical, medical reasons — as well as principled ones — why the control over the reach of genetic sequencing — and the information it yields — should rest solely in patients’ hands.
The patient may already be battling another disease, such as advanced cancer, or be late in life and see more burden than benefit in added genetic information. The patient may also fear that ‘extra’ results in their medical record will invite risk of discrimination.
Ominously, the “minimum list” of 57 genes currently on the table for data mining is expected to grow significantly, according to the ACMG. That, the report warns, places even greater urgency upon lawmakers to craft new legislation, or enforce existing law, if applicable, that strongly favors patients’ rights.