A poll conducted by the New England Journal of Medicine (NEJM) finds that physicians are split on whether or not they would recommend genetic screening for an asymptomatic patient expressing an interest in testing. The NEJM presented a fictional asymptomatic, 45-year-old man to readers. This patient was concerned about his cancer risk and asked his internist about genetic testing. In addition to the scenario, views from two experts were shared. The more than 900 NEJM readers who participated in the poll were split in their opinion, 40 percent against any testing and 60 percent saying they would recommend testing. Of those favoring testing, 12 percent of all voters say they would screen with whole-genome sequencing, while 47 percent would chose targeted sequencing. Respondents raised concerns about the management of the patient following test results as well as the financial consideration of genetic testing (both the cost of the test as well as potential downstream costs if screening showed increased risk). “The mixed results of the polls reflect, in part, concerns about genetic testing and about genome sequencing in asymptomatic persons who do not have a strong family history of diseases for which there are known genetic risk variants and available […]
A poll conducted by the New England Journal of Medicine (NEJM) finds that physicians are split on whether or not they would recommend genetic screening for an asymptomatic patient expressing an interest in testing.
The NEJM presented a fictional asymptomatic, 45-year-old man to readers. This patient was concerned about his cancer risk and asked his internist about genetic testing. In addition to the scenario, views from two experts were shared. The more than 900 NEJM readers who participated in the poll were split in their opinion, 40 percent against any testing and 60 percent saying they would recommend testing. Of those favoring testing, 12 percent of all voters say they would screen with whole-genome sequencing, while 47 percent would chose targeted sequencing.
Respondents raised concerns about the management of the patient following test results as well as the financial consideration of genetic testing (both the cost of the test as well as potential downstream costs if screening showed increased risk).
“The mixed results of the polls reflect, in part, concerns about genetic testing and about genome sequencing in asymptomatic persons who do not have a strong family history of diseases for which there are known genetic risk variants and available treatments,” writes Joann Schulte, D.O., in a Clinical Decisions piece published on Nov. 13 regarding the poll results. Schulte and co-authors conclude that at a time when “the cost of DNA sequencing is declining as our knowledge about genetic risk is increasing, conclude that many patients, like [the fictional 45-year-old man], are curious and will actively seek knowledge about their genetic risk.”
Split Seen on Returning Kids’ Secondary Findings
One of the challenges to clinical implementation of whole-genome or whole-exome sequencing is the issue of secondary findings. In a separate survey, researchers found that the majority of American College of Medical Genetics and Genomics (ACMG) members feel that patient preferences should dictate the return of secondary findings (formerly called incidental findings) uncovered during sequencing.
The study, published Nov. 13 in Genetics in Medicine, found that most respondents agreed that returning secondary findings is best practice and is consistent with medical standards, has sufficient evidence, and, for adults, the benefits generally outweighing potential harms. Despite ACMG’s recent update to its policy calling for routine analysis of “pathogenic variants associated with severe but preventable disease” in children, the survey showed a lack of agreement among members regarding benefits versus harms for reporting in children. However, consistent with ACMG policy, the majority agreed that patient preferences should be considered, including the ability to opt out, and that informed consent was both feasible and critical. ACMG added in its policy statement that given the “ever-changing list” of disorders, opt-out should be for the entire set of ACMG’s actionable genes and due to “practical concerns,” patients should not be offered the option of choosing a subset of medically actionable genes for analysis.
Takeaway: The medical community is aware of rising patient-initiated interest in genetic screening for cancer. Yet physicians are divided in their reported views for recommending such testing in asymptomatic patients, in part over patient management and cost concerns.
