FDA OKs Marketing of 10 DTC Genetic Health Risk Tests – AAFP News

"Welcome to you."

That message greets visitors to the website of 23andMe,(www.23andme.com) the company that now can market its genetic health risk (GHR) tests for 10 medical conditions directly to consumers, thanks to a recent decision by the FDA.(www.accessdata.fda.gov) The tests, part of the company's Health + Ancestry Service that costs $199, determine whether a person's genetic makeup increases the risk of such health conditions as late-onset Alzheimer's disease, Parkinson's disease, celiac disease and thrombophilia.

The FDA reviewed the 10 GHR tests through its de novo premarket review pathway,(www.fda.gov) a regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device.

The agency intends to exempt additional 23andMe GHR tests from premarket review, and GHR tests from other makers also may be exempt after the maker submits its first premarket notification, said an April 6 FDA news release(www.fda.gov) announcing the decision. "A proposed exemption of this kind would allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review."

The FDA decision sets a precedent for making GHR tests for a wide variety of conditions available to consumers without a physician intermediary, said family physician and geneticist W. Gregory Feero, M.D., Ph.D., a faculty member at Maine-Dartmouth Family Medicine Residency.(www.mainedartmouth.org) He previously was chief of the Genomic Healthcare Branch of the National Human Genome Research Institute (NHGRI) and senior adviser for genomic medicine to former NHGRI Director Francis Collins, M.D., Ph.D.(www.genome.gov)

In a broader context, the FDA's decision is a natural outgrowth of the movement toward making patient data more accessible and transparent to consumers -- toward "if it's about you, you should own it," said Feero. "We'll see over time if this brings net good or net harms."

Jennifer Frost, M.D., medical director of the AAFP Health of the Public and Science Division, acknowledged that genomics is a wave of the future concept that excites people, but she said she's concerned about consumers buying the GHR tests without previous genetic counseling and without a goal in mind.

The 23andMe website encourages but does not require consumers to get genetic counseling before buying the GHR tests, and it also encourages counseling if test results reveal an increased risk for a genetically moderated condition. Unfortunately, genetic counselors aren't readily available to everyone, especially in some rural areas, Frost said.

On its website, 23andMe explains that GHR tests aren't diagnostic and that a test result indicating increased risk doesn't mean the person will definitely get the disease. But some consumers may not fully grasp that information, Frost said.

The website also suggests sharing with a health professional any test results that show an increased risk for a particular condition and talking with a physician if other risk factors for the condition are present.

"The one positive is that if buying the GHR tests encourages the person to seek out their family doctor to discuss the test results, it gives the doctor the opportunity to talk about their overall health and encourage a healthy lifestyle," Frost said. "Otherwise, I'm not sure how helpful the testing is overall."

Feero said he is concerned about consumers overinterpreting the results of GHR tests, which are somewhat but not highly predictive of one's chances for developing a given condition.

"For the most part, 23andMe's tests are single nucleotide polymorphism testing, looking for signposts for a mutation somewhere else in the gene," said Feero. "The tests are accurate for measuring for the signposts, but the issue is, is that signpost in that individual signaling a true nearby mutation with health consequences?

"Some mutations may confer only a relatively small risk increase for conditions with multiple genetic components. Multiple genes, as well as behaviors and environment, also go into risk."

Granted, 23andMe has done a fairly good job of providing information about the other factors that elevate risk, Feero said. Nevertheless, consumers may look at their test results and interpret their own risk without taking into account those other risk factors, he said.

Knowing about increased risk for a health condition could be a double-edged sword, Feero said. "People may be empowered and act in ways to help their health, or they may behave fatalistically about the information in ways that are detrimental to their health."

Another concern is that knowing about genetic risks may affect a person's ability to obtain certain types of insurance. The Genetic Information Nondiscrimination Act (GINA),(www.eeoc.gov) passed in 2008, prohibits discrimination by employers or insurance companies based on genetic information in most situations, but it does not confer protection from such discrimination by insurers providing life, long-term care or disability insurance.

To make matters worse, H.R. 1313, the Preserving Employee Wellness Programs Act,(www.congress.gov) introduced in the House in March, could erode the protections that GINA does offer. The American Society of Human Genetics has opposed the bill,(www.ashg.org) saying it would "fundamentally undermine the privacy provisions" of GINA and the Americans with Disabilities Act. In 2015, the AAFP signed onto a letter opposing a version of the bill introduced that year. That April 21 letter(5 page PDF) stated, "We strongly oppose any policy that would allow employers to inquire about employees' private genetic information or medical information unrelated to their ability to do their jobs, and penalize employees who choose to keep that information private."

"Even if sponsors of this bill and the bill itself are well intentioned, it could be used to potentially erode GINA protections," said Feero. "I do think constant vigilance for erosions is good."

As an increasing number of direct-to-consumer GHR tests are marketed, it's likely that more patients will bring test results to their doctors and ask for advice. Unfortunately, abundant literature indicates a relatively low level of genetic literacy among many types of health care professionals, including family physicians, said Feero.

Ann Karty, M.D., former medical director in the AAFP Division of Continuing Medical Education and currently the Academy's representative on NIH's Inter-Society Coordinating Committee for Practitioner Education in Genomics, which she co-chairs, offered suggestions to help FPs become better prepared for these discussions.

"As providers, we need to seek information if we don't know how to interpret these test results -- just as we would do with anything else we don't understand," said Karty. Look for educational opportunities that cover genomic topics, such as those available from the AAFP (see sidebar above), she suggested.

It's also important to figure out how to integrate the new knowledge into practice, Karty noted. When a patient wants to discuss a genetic report, for example, the office staff may want to chat with you about how to handle the situation, she said. "Do you want to see the report first and then call or meet with the patient to discuss?"

Another caveat: Make sure the appointment is long enough to deal with such a complex topic. "Ten minutes just isn't long enough," said Karty.

She advised family physicians to have a list of genetic counselors available so they can refer patients to them when needed. And whenever patients talk about direct-to-consumer products or services that pop up, find the website they reference to see what they are talking about.

Both Karty and Feero agreed on the importance of a good family history, which can help identify genetic risks. "Family history is a great place to start, and I think we do an inadequate job of asking questions in enough depth," said Feero.

Nowadays, patients self-identify items on a form when they come in, and the doctor looks at it or doesn't, Karty said. "I treasure the days when we looked at and touched the patient and did the entire history, because that helped the relationship with the patient."

She said her teaching experience with medical students and residents showed her that "the more we get behind the computer, the more we lose the touch component."

The capability to record family history information in electronic health record (EHR) systems is very limited, Karty said, with templates that don't allow you to go back further than mom and dad -- yet genetic mutations sometimes jump generations.

Feero agreed that current EHR systems are lacking in this regard. "When I arrived at the National Human Genome Research Institute in 2007, I began trying to get standardized family history across EHRs. We haven't gotten there yet."

Related AAFP News Coverage Fresh Perspectives Blog: President's Focus on Precision Medicine Could Be Catalyst for Change (2/10/2015)

USPSTF Recommends BRCA Mutation Screening for High-risk Women Only Task Force Identifies Appropriate Screening Tools FPs Can Use (4/3/2013)

GAO Report Critical of Genetic Tests Marketed to Consumers FDA Working to Regulate Products (8/11/2010)

Additional Resource Genetics/Genomics Competency Center (G2C2)(genomicseducation.net)

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FDA OKs Marketing of 10 DTC Genetic Health Risk Tests - AAFP News