Unethical practices uncovered in direct-to-consumer genetic testing
Executive Summary
Direct-to-consumer genetic testing presents multiple ethical concerns, including individuals being given misleading or inaccurate information. In July 2014, the U.S. Food and Drug Administration announced coming draft guidelines for the regulation of laboratory developed tests.
• There are unresolved questions about the accuracy of the testing.
• Some company representatives made medical recommendations based solely on test results.
• "Worried well" patients are requesting unnecessary screening tests.
Information often inaccurate or misleading
A patient pays for "direct-to-consumer" genetic screening, and receives results stating she is "high risk" for breast cancer — when in fact, the woman’s results indicated a 13% lifetime risk compared with 12% for the general population.
The fact that information is possibly misleading to individuals is the primary ethical concern involving direct-to-consumer genetic testing, says Cecelia A. Bellcross, PhD, MS, CGC, director of the Genetic Counseling Training Program in the Department of Human Genetics at Emory University School of Medicine in Atlanta, GA.
As in the above scenario, some test results are overly concerning to people who are really not at much greater risk than the general population. In other cases, an individual’s risk is minimized, such as a report stating someone is at "low risk" for developing diabetes without taking environmental factors or family history into account.
"There has certainly been an evolution in direct-to-consumer genetic testing," says Bellcross. "There were multiple companies that jumped on the genomic risk-profiling bandwagon, but all of those have pretty much gone away at this point."
Guidelines are forthcoming
In 2010, the Food and Drug Administration (FDA) issued letters to direct-to-consumer (DTC) genetic testing companies requesting additional data on the reliability and validity of their tests. "Then in 2013, it issued stronger letters, but did not take specific action against particular companies," says Katherine Wasson, PhD, MPH, director of the Honors Program in Bioethics & Professionalism at Neiswanger Institute for Bioethics and assistant professor at Loyola University Chicago. "In response, 23andMe stopped offering its health-related direct-to-consumer genetic testing, and only offers ancestry testing."
On July 31, 2014, the FDA gave Congress notice that it would draft guidelines for the regulation of laboratory-developed tests (LDTs). The guidelines would include any DTC genetic tests that are considered LDTs.
These classifications may provide the consumer with more information on the risk level before ordering such tests, says Wasson, but the full implications are not yet clear.
"These guidelines are likely to take up to a decade to implement," says Wasson. "But the general idea is that the FDA will classify LDTs based on risk — Class I, II, and III — similar to medical devices."
Ultimately, the FDA "clamped down" on allowing companies to provide this service, says Bellcross, in part due to lack of information about the accuracy of the panels being utilized. A patient’s results might indicate five markers associated with breast cancer, but these markers may not reflect the patient’s risk accurately because they don’t take into account the known inheritability of breast cancer. "It’s like offering a prediction when you are missing 90% of the information," says Bellcross. "The information may be inaccurate or misleading."
Investigation reveals unethical practices
The Government Accountability Office’s investigation revealed that in some cases, direct-to-consumer company representatives were making medical recommendations based solely on the test results.
"The information these companies provided to the clients, both on websites and verbally, was crossing the line of practicing medicine," says Bellcross. "In some situations, a customer service person with a high school education was telling people how often they should have colonoscopies."
Other unethical practices were uncovered, such as representatives instructing people in how to submit an unknowing person’s DNA to surprise them with their genetic information. "As time went on, and more studies were done, the clinical utility of this testing was really placed into question," adds Bellcross.
Test results produced increased requests for screening by "worried well" patients, some of which was likely unnecessary. "Obviously, there are issues with over expenditure of health care dollars as it is," Bellcross says. "A patient may have a direct-to-consumer result suggesting a 1% increased risk for prostate cancer at age 30 and insist on a PSA [prostate-specific antigen] test."
As most primary care physicians have little understanding of how to interpret direct-to-consumer genetic test results, they might order requested screening tests to please their patients, says Bellcross. "Whenever you are doing that, you are going to end up with people having biopsies and all sorts of things that are unnecessary," she warns.
Individual’s right to know
Individuals have a "right to know" about their own bodies, health, and genetic make-up, says Wasson — the challenge with direct-to-consumer genetic testing is uncertainty surrounding the reliability and accuracy of the different results and how to interpret them.
"Yet some may argue that people should have the freedom to determine if they wish to take a direct-to-consumer genetic test, and what to do in light of such results," says Wasson. In addition, this type of testing may provide some accurate information or motivate people to make positive health changes based on the risk estimates they receive, she acknowledges.
"People have a right to genetic information, but they have a right to accurate genetic information that is usable," says Bellcross. "That’s what we need to be offering."
"Time out" until more is known
Any kind of direct-to-consumer testing must be viewed in light of the test’s complexity, risks, and patients’ varying educational levels, says Kenneth W. Goodman, PhD, director of the Bioethics Program at the University of Miami (FL).
"Moreover, even professionals are unsure of the meaning of genetic information," says Goodman. "This is why we have — and ought to use — genetic counselors."
One way to view the latest FDA decision is as a kind of "time out" on direct-to-consumer services until more can be learned about their risks and benefits, according to Goodman. "I’m always worried when patient autonomy and a right to know’ are invoked as part of a business plan," he says. "Is this really about patient empowerment, or the latest in health care entrepreneurship?"
Much more research on the kinds of risks and harms faced by patients and families of patients who receive uninterpreted genetic data is needed, he urges. "Consumer demand is one component of health policy," Goodman acknowledges. "But it is not the only one, and it should not be dispositive — or we would not need prescriptions, require licensing of doctors and nurses, or regulate drug and device research."
- Cecelia A. Bellcross, PhD, MS, CGC, Assistant Professor, Director, Genetic Counseling Training Program, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA. Phone: (404) 727-3281. E-mail: [email protected].
- Kenneth W. Goodman, PhD, Professor and Director, Bioethics Program, Miller School of Medicine, University of Miami (FL). Phone: (305) 243-5723. E-mail: [email protected].
- Katherine Wasson, PhD, MPH, Director, Honors Program in Bioethics & Professionalism, Neiswanger Institute for Bioethics/Assistant Professor, Loyola University Chicago. Phone: (708) 327-9201. E-mail: [email protected].
