Cover Story

Taming the Gene Genie

Genetic testing has taken off and may usher in a new era of genetically tailored health care. Insurers are figuring out how to cope with the avalanche of information. Could genetic counselors as standalone practitioners be part of the answer?

Jan Greene

Americans have fallen in love with the genetic test. They’re convinced their own personal genomes contain a mysterious universe locked within their cells and, when finally observed, will provide insight into every unanswered question they’ve had about themselves. Are my ancestors really from Ukraine? Am I at risk for some unknown disease? Did I inherit granddad’s dementia? If so, when will I start to lose the car keys?

The marketplace has been happy to respond to this fascination with genetic navel gazing, offering consumers a growing number of genetic screening tests that allows them to spit into a tube and learn about hidden health risks without bothering their physicians.

Employers are asking questions about “what genetic testing they should cover and if they should give their employees access to” tools like 23andMe, says Jeff Hankoff, MD, a medical director at Cigna.

But there’s a significant downside to all this access. Genomics is complicated, and test results are often couched in uncertainty and loaded with caveats. The tests available to consumers may not be clinical quality, so if something questionable pops up, the tests need to be redone anyway. A positive result could also lead to a cascade of additional, expensive, and potentially risky diagnostic tests.

Health plans are already seeing the results of the 12 million Americans who have taken a broad genetic screening test, such as the one sold by 23andMe that, for $139, provides both health and ancestry information. “We are seeing from our clients more questions about what genetic testing they should cover and if they should give their employees and dependents access to a tool like 23andMe,” says Jeff Hankoff, MD, a medical director for Cigna, most of whose customers are self-insured employers.

This is not to take anything away from genetic medicine, a serious medical specialty and an area of research with huge potential to save and improve lives. Newborn screening and prenatal testing have a long history of identifying disease early, and discoveries about the contribution of genetic variants to the risk of breast and ovarian cancer have contributed hugely to medicine, to cite just a couple of examples. Last month, a study presented at the meeting of the American Society of Clinical Oncologists showed that, based on genetic test results, many women with early-stage breast cancer don’t need to be treated with chemotherapy.

At the same time, genetic sequencing has become progressively cheaper and is largely unregulated. The biotech sector has accelerated the move of consumer-facing genetic tests from a high-tech way to fill out the family tree to determining inherited propensities for a wide variety of diseases and conditions; some entrepreneurs have run a little further with the technology: They’ll use your DNA to supposedly match you with a wine you might like or a personalized skin care regimen.

Even as the number of genetic tests from clinical laboratories climbs past the 70,000 mark (most of those aimed at physicians, not consumers), a vanishingly small number have gained a consensus among scientists as being “medically actionable,” and offering risk information that a patient could actually use. The greatest evidence exists for identifying inherited diseases in newborns, for certain rare diseases with a clear relationship to a gene or gene variant, and genome-related heightened cancer risk. And genetic testing in the context of cancer treatment has become increasingly common. Profiling tumor cells can determine treatment and provide prognostic information.

But the CDC has identified just four genetic tests that it considers having enough evidence to support as a public health indication for screening asymptomatic people: hereditary breast and ovarian cancer, Lynch syndrome, and hypercholesterolemia.

The American College of Medical Genetics maintains an ever-changing list of several dozen screening tests considered most likely to be verifiable and “amenable to medical intervention.” ACMG Executive Director Mike Watson says there’s little overlap between its list and what direct-to-consumer tests are offering. In part that’s because the research hasn’t caught up to the marketplace to fill in the blanks on what a person’s genome can suggest about their health risks.

Exome sequencing at Geisinger

Researchers are hungry for large data sets of genetic and medical history information for populations so that the many other genetic markers that they suspect have medical relevance can be definitively identified, Watson says. “You have to study lots of asymptomatic people to determine how many of them get the disease,” he says. “There’s not a lot of testing being done on asymptomatic people,” he points out, and the databases that do exist aren’t being shared among researchers.

That’s one reason why Geisinger Health System announced in May that it was embarking on broad exome sequencing—sequencing that focuses on just the protein-coding genes in the genome.

The testing focuses on 77 gene variants that could be related to health risks and will be incorporated into the primary care of Geisinger’s three million patients over the next several years.

Geisinger took the unusual step in part because its research group has been hip-deep into genetic research for years and the system wants to take the next step by gathering information on a relatively homogeneous population of rural Pennsylvanians. Geisinger also believes genetics is part of a personalized medicine approach that will identify potential health risks for its members, such as heart disease, so they can make lifestyle changes that make a difference. As an integrated health system that wears both the provider and payer hats, its incentives to keep people healthy are nicely aligned. Geisinger estimates about 15% of patients will end up with actionable information on their sequenced exomes.

The public doesn’t understand the services that genetic counselors are capable of providing, says Erica Ramos, president of the National Society of Genetic Counselors.

Not everyone is convinced it’s time to screen the U.S. population for genetic variants of concern. Hankoff says Cigna has been following the research closely and does not believe there is enough evidence to support screening as a public health measure. The technology and availability of testing has gotten way ahead of what patients and doctors should do with the resulting information, he says. There are also risks to patients in doing a test that can’t be undone, that will be part of their medical record, and that could affect their futures in unforeseen ways such as affecting their ability to get life insurance, Hankoff says.

Some consumers are taking their sequenced genome’s raw data and running it through software that is supposed to spit out useful information. But DIY genomics is fraught with problems, says Erica Ramos, president of the National Society of Genetic Counselors (NSCG), such as a risk of false positives. “When people give their information to a third party it’s really critical that they talk to a genetic counselor and get it evaluated and confirmed as much as possible,” says Ramos, who started a job at Geisinger earlier this year that involves working with the group that is giving the organization’s genomic initiatives national exposure and reach.

Cigna requires counseling

That’s one reason why Cigna patients must see a genetic counselor before getting any prescribed genetic test. Cigna wants to arm patients with information ahead of time, given both the risks and uncertainty around sequencing. The potential for confusion abounds. Take breast cancer risk from three variants of the BRCA1 and BRCA2 genes. In a precedent-setting decision, 23andMe received FDA approval in March to sell tests for 3 BRCA variants, which are associated with an increased risk for breast cancer among people with Ashkenazi Jewish heritage. The approval raised concerns that people without that heritage would take the test, get a negative result, and think they are home free, when in fact there are dozens of other genetic variants related to breast cancer risk not included in the 23andMe test—not counting all the other factors that go into estimating the risk of developing a disease, such as lifestyle, family history, and personal health history.

Cigna patients are referred either to genetic counselors, genetic medicine specialists, or to nurses or physicians who have had the specialized training required to interpret genetic tests. Other insurers report having similar rules in place; Anthem Blue Cross, for instance, refers patients to counseling but it can be done by a physician or genetic counselor. A UnitedHealthcare spokesperson said the insurer encourages but does not require consult with a genetic counselor.

Health insurers don’t usually pay for testing by direct-to-consumer vendors. But a direct-to-consumer test could lead to a health plan if a patient takes concerns about a health risk to their primary care doctor who believes further genetic testing would be helpful.

Cigna figures the cost of counseling curious patients is more than offset by the avoidance of unnecessary testing once the counselor explains what genetic testing can and cannot tell them, in the context of family history and personal health history.

Physicians aren’t all thrilled with such policies. A 2017 study by a breast surgeon in the Journal of Oncology Practice concluded that the pre-testing genetic counseling requirement actually deterred some patients from being screened.

Many people wanting more information about their test results won’t go to their health plan; they pay out of pocket for independent genetic counselors, who are increasingly available by video and phone. Traditionally, genetic counselors were part of a medical team and received only referrals from physicians, but they are increasingly working independently and for startups that offer phone consultations (see “Facts About Genetic Counselors”).

Facts about genetic counselors

  • There are about 4,000 genetic counselors in the United States.
  • While there is greatly increased demand for genetic counselors, the National Society of Genetic Counselors believes increased access to their services by phone provides most consumers with the ability to reach a counselor within a week or two.
  • Genetic counselors are master’s trained, are certified by the NSGC, and are licensed in 22 states.
  • They are allowed to provide genetic counseling independent of a physician in 25 states.
  • They may prescribe genetic tests independent of a physician order in just eight states.
  • The NSGC is seeking federal legislation that would have the CMS recognize the profession for independent reimbursement.

Genetic counseling is generally covered by health plans, reports Ramos. But she says the profession isn’t as visible as it needs to be so that consumers know there are specialists available to not just explain the science of their genetic test results but also help with the sometimes unexpected emotional issues that come with hearing that a genetic disorder or predisposition could lay in wait sometime in the future.

Ramos says the genetic counselors organization is working with insurers to get counselors credentialed and listed in health plan directories as standalone practitioners so they can be easily found by members.

It often comes down to “what do you do with the results?” says Amber Trivedi, chief innovation officer for genetic counseling at InformedDNA.

Health plans are under pressure to cover follow-up genetic tests for members who get a screening such as the BRCA tests offered by 23andMe. The company’s FDA approval requires that positive results be confirmed with testing from a clinical lab before the results are acted upon medically. The Center for Genomic Interpretation, a not-for-profit organization that aims to improve the quality of clinical genetics, has called on insurers to cover follow-up testing of the BRCA test. Ramos’s organization agrees: “We are really encouraging payers to pay for confirmatory testing for these patients,” she says.

Providers and health plans, meanwhile, may soon be facing a torrent of data from genetic testing. “We could see in the next five to 10 years where standard comprehensive genetic testing could be available across the board,” predicts Amber Trivedi, chief innovation officer for genetic counseling at the consulting firm InformedDNA. “What do you do with the results?”

Advice from the pros

The consumer should be fully informed regarding what the test can and cannot say about his or her health. Many direct-to-consumer genetic tests do not give a definitive answer regarding whether an individual will develop a given condition but instead only provide information about the risk or probability of developing a disease.

—Excerpt from the position statement of the American College of Medical Genetics and Genomics position statement on direct-to-consumer genetic testing

Jan Greene is a health care journalist in Northern California and a regular contributor to Managed Care.

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