Skip to main content

To Be Clearer

The American College of Medical Genetics and Genomics, which recently issued guidelines regarding the return of incidental findings, has published a clarification regarding that statement.

The guidelines, released during the ACMG annual meeting in Phoenix in March, recommended that certain genetic findings uncovered by a lab during whole-exome or whole-genome sequencing of a patient be reported back to the physician and patient, even if those findings were unrelated to why the patient was undergoing testing. For example, if the patient is being tested for mutations linked to heart disease, but sequencing turns up a mutation in, say BRCA1 that predisposes that patient to cancer, that finding should be reported.

After the statement was released, some critics said the report was "too conservative" while others said it overlooked patient autonomy, among other issues.

In its clarification, the ACMG reiterates its thoughts on patient autonomy, reporting findings from children, laboratory policies, communicating results, and predicting disease likelihood.

For example, in addressing patient autonomy, the group says its reason for advising returning results was because its list of mutations and conditions only included pathogenic variants that had a high likelihood of leading to disease. "The rationale for our recommendations was that not reporting a laboratory test result that conveys a near certainty of an adverse yet potentially preventable medical outcome would be unethical," it adds.

In a blog post at the Huffington Post, guideline author Robert Green adds that "autonomy is not removed, but shifted to a more appropriate place" under these guidelines. "[O]rdering physicians should receive a report that includes the potentially dangerous incidental mutation, and thus informed, the physician and patient together can choose to learn more about the illness that it implicates. … Absent the knowledge that such a mutation exists, patients will not have any authentic opportunity to inform themselves or exert any choice over this danger," he adds.

The Scan

Call to Look Again

More than a dozen researchers penned a letter in Science saying a previous investigation into the origin of SARS-CoV-2 did not give theories equal consideration.

Not Always Trusted

In a new poll, slightly more than half of US adults have a great deal or quite a lot of trust in the Centers for Disease Control and Prevention, the Hill reports.

Identified Decades Later

A genetic genealogy approach has identified "Christy Crystal Creek," the New York Times reports.

Science Papers Report on Splicing Enhancer, Point of Care Test for Sexual Transmitted Disease

In Science this week: a novel RNA structural element that acts as a splicing enhancer, and more.