The Genetic Testing Conundrum

Genetic tests are revolutionizing more than medicine. They’re revolutionizing the doctor-patient experience as they increasingly become a consumer-driven service. And that’s raising questions for providers and challenges for payers.

The direct-to-consumer 23andMe DNA test kit was FDA-approved in early April. For $200, anyone can order a test that reports on genetic markers for certain health conditions, and genetic variants for certain health conditions’ carrier status.

For just $50 more, consumers can order the Color test panel which looks at 30 genes to provide a risk assessment for common hereditary malignancies, including breast, ovarian, colon, and pancreatic cancer. It can also be ordered by patients right in their doctor’s office.

That’s just for starters. A simple Google search reveals the number of DNA tests being marketed to consumers is growing, many offered by familiar brands consumers trust. For providers and payers who have been wrestling with the explosion of molecular diagnostics tests—including new technology such as multigene panels like the Color test—this scenario isn’t new.

The challenge for both providers and payers isn’t whether the patient or physician requests a consumer-oriented DNA test kit by mail. It’s more important to know which molecular diagnostic test to order and what to do with the results. But does ease of purchase, ease of use, and the reduced cost of consumer tests eclipse comprehensive, evidence-based criteria for testing?

When a patient or their doctor is concerned about the possibility of a genetic cause of the patient’s condition, thoughtful evaluation of which test to order—or if genetic testing is even appropriate—makes sense.

Could the ailment be from a mutation of some sort? How likely is that individual to have a genetic defect? Does the evidence support molecular testing to determine the etiology of the patient’s symptoms or exam findings? What genes should be evaluated for this patient’s situation? And most importantly, what can be done with the results? Will the findings impact the course of treatment?

The majority (53%) of the 132 medical oncologists and hematologist/oncologists queried in a recent Medscape survey on genomic testing felt that more physician education around genetic testing was needed. It also found which tests to order was poorly defined, that testing was too expensive and often used inappropriately, and that commercial testing (meaning direct-to-consumer tests) was not always reliable or valid.

Perhaps most striking: physicians in the Medscape survey also reported fewer than 25% of their cancer patients obtained clinical benefits from testing. When deciding whether to use genomic testing at all, these specialists referred to the National Comprehensive Cancer Network (NCCN) or other medical society guidelines for assistance.

In addition, the lead study author of a quality improvement project on genetic testing costs and compliance at the Naval Medical Center San Diego, Dr. Kathleen Ruzzo, presented findings at the American College of Obstetricians and Gynecologists (ACOG) meeting in May. Her research showed that nearly 39% of genetic tests were not indicated, done only to provide reassurance, or demonstrated inadequate results.

The issues voiced in the Medscape survey and Dr. Ruzzo’s research reflect those of most providers. There is so much information and choice in the market, and both providers and payers need direction on when and what genetic testing is appropriate. Evidence-based criteria can offer guidance on what testing, if any, will provide clinical benefit. In fact, these criteria can also guide the provider if a patient gives the clinician a test result they obtained from a kit they ordered by mail.

Traditionally, individual genes were evaluated to determine specific mutations. Increasingly, multi-gene panel testing, in which next-generation sequencing is used to test multiple genes simultaneously, is being requested. This is because a number of genes may be causative, and the process to sequentially test individual genes is lengthy and expensive. That said, running a test of the patient’s entire genome, however efficient, might not always be more cost-effective or provide long-term benefits.

Because multiple genes are evaluated, testing might also lead to unexpected positive findings of unknown relevance. Appropriateness criteria developed using medical evidence from randomized controlled studies, clinical trials, and large prospective cohort studies can support the provider in their decision to test; and guide the choice of which testing to undertake and which genes should be tested.

The science behind the decision to test allows the provider to furnish thoughtful, pertinent, patient-directed management, treatment, and counseling. It also provides the payer with solid evidence on which to base medical-necessity determinations. The question still to be studied and answered: Will genetic testing incorporated into the overall management of the patient lead to better patient outcomes at lower cost?