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Geneticists Call For Regulation of DTC Genome, Exome Sequencing Tests

NEW YORK (GenomeWeb News) – As high-throughput sequencing approaches make it faster and more feasible to sequence and interpret medical information from an individual's entire genome or exome, some experts are raising questions about the regulation and availability of such tests.

"This upheaval in sequencing technology presents new challenges to implementation and regulation, forcing physicians to consider what genomics has to offer patients, clinicians, and consumers, ultimately prompting a consideration of the role of paternalism in medicine," University of North Carolina at Chapel Hill genetics and medicine researchers James Evans and Jonathan Berg wrote in a commentary article in today's issue of the Journal of the American Medical Association.

In particular, the authors called for a closer look at the oversight of whole-genome and whole-exome sequencing tests offered directly to consumers.

Next-generation sequencing has potential applications in a range of areas within medicine, the pair explained, from finding the causes of difficult-to-diagnose genetic conditions to screening individuals who may have inherited syndromes that put them at elevated risk of cancer or other disease. It may also be useful for providing pre-conception screening for those with certain autosomal recessive disorders.

Sequencing is also finding its place within the burgeoning field of direct-to-consumer genetic testing, they noted, as some DTC services move from microarray-based assessments of common variants to more extensive variant analyses based on sequence data from the entire genome or exome.

"We have now the potential to tell people very real and important things about their genomes," Evans said. "Some of those things can be very useful and very welcome if acted upon in the right way, but some of that information may not be very welcome to people: being at high risk for an untreatable disease such as dementia, for example."

For their part, Evans and Berg argued that caution is warranted when providing whole-genome or whole-exome results to individuals, given the complexity of this information, combined with its potential for harming individuals or misleading them about their health risks.

They also pointed to the broader societal impacts that genome and exome sequencing tests might have as a result of changes in individuals' follow-up testing, treatment, long-term care, and more.

"What you're now dealing with is a real medical test, one that has the power to help, hurt, and to confuse," Evans said in a statement. "I believe we need to think carefully about how to best use it and how that use should be regulated in order to maximize benefit and minimize harm."

For instance, the researchers called for the same sort of scrutiny and oversight of whole-genome and whole-exome sequencing-based tests as there is for existing medical tests. They also pointed to the importance of health care professionals in helping to interpret the patterns found in genome or exome sequence data.

While physicians are not the only ones that communicate genomic information, Evans said in a statement, the authors believe those communicating such information to patients should be independent of those offering the sequencing service.

"There are genetic counselors capable of dealing with this," he said. "But it must be a person not employed by the company or laboratory doing the testing since that invites egregious conflict of interest."

While Evans and Berg recognized that there are those who view regulations that would limit an individual's access to his or her own genome or exome sequence data as paternalistic, they argued that "medicine is, to at least some extent, an inherently paternalistic endeavor simply because of an inevitable asymmetry in knowledge and because those who practice medicine are pledged to avoid causing harm."

"As genomic testing becomes widely available, the medical community should anticipate the proper role of genetic testing in medicine," they added, "and grapple with how those tests should be regulated."

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