TAMPA, FL – Some in the clinical genetics community have doubts about whether direct-to-consumer genetic testing is ready for prime time, but others consider the rise of DTC testing to be a prime opportunity to raise awareness of genetics among the general population.
At a panel discussion on DTC genomic testing at the American College of Medical Genetics' Clinical Genetics Meeting here yesterday, ACMG President-Elect Bruce Korf expressed skepticism about whether DTC tests are reliable enough for clinical decision-making, but noted that their availability nevertheless represents "a teachable moment" for geneticists.
As a result of mainstream media coverage of DTC testing firms like 23andMe, Navigenics, and Decode Genetics' DecodeMe, "there is a lot of public attention being directed at genetics now," which represents a chance for ACMG and its members to stake a claim in the quickly evolving field, he said.
Korf said that DTC testing could be considered a "disruptive technology" that arguably has its share of faults now, but "the danger is that by turning our backs, little by little, as the quality improves, it could become a very powerful approach" and the clinical genetics community will have missed its chance to play a role.
Howard Levy of Johns Hopkins University expressed a similar view, noting that "we've spent years wringing our hands that no one cares we're here and have a service to offer." Now that the spotlight that has been turned on DTC testing, he said it could serve as a means to raise awareness of the role of clinical genetics in healthcare.
Regardless of what practicing geneticists may think of DTC testing, "the train has left the station," said Joe Leigh Simpson, ACMG's current president. Simpson, an obstetrician, noted that he witnessed a similar situation when home pregnancy tests first hit the market. "We thought the sky was falling," he said.
Marilyn Jones, past president of ACMG, agreed that "we ignore this at our peril," but expressed concern that the average consumer may not be able to grasp the complexity of disease risk information based on a whole-genome scan. Even for monogenic tests, she said, "explaining basic risks is very, very difficult."
Several members of the audience echoed that comment, highlighting the important role that genetic counselors and other professionals play in advising patients whether to take a genetic test and then helping them interpret the results. Indeed, these views are in line with a policy statement ACMG issued last year that recommended that "a knowledgeable professional should be involved in the process of ordering and interpreting a genetic test."
Lynn Fleisher, an attorney with Sidley Austin who serves as ACMG's legal counsel, noted that genetic testing is very different than other medical tests because patients require assistance in interpreting the results. "There's a reason there are genetic counselors, but not cholesterol counselors or bone density counselors," she said.
Fleisher added that a key role of the clinical geneticist is "helping patients understand what they're asking for," and that her biggest concern with DTC testing is that "I've seen no indication that individuals know what they're asking for, or what they're going to get, or how they will use it."
Robert Green of Boston University School of Medicine, on the other hand, argued for taking the "personal utility" of genetic testing into account, citing as an example the REVEAL (Risk Evaluation and Education for Alzheimer's Disease) study, which has shown that many patients want information "that some find frightening" despite the fact that there is no actionable medical treatment for Alzheimer's.
Geneticists "risk being patronizing" if they refuse to acknowledge patients' ability to make these decisions, he said.
Linda Avey, co-founder of 23andMe, also warned against a "paternalistic" approach to genetic testing, but acknowledged that genetic counseling might be required in certain situations. She added that the company is currently looking into ways to direct customers who test positive for BRCA mutations to a counselor or geneticist.