A year ago, I was shivering in the pre-op room at Cedars-Sinai Medical Center waiting to be wheeled into surgery for a mastectomy. What led me there was my spitting into a tube, like millions of others have done, and sending off my DNA to be analyzed.
The results shocked and devastated me. They showed I have a mutation in the BRCA1 gene that puts me at an incredibly high risk of developing breast and ovarian cancer. The mastectomy would reduce my chance of developing breast cancer from as high as 72% to almost nothing. A few months earlier, I had surgery to remove my ovaries.
As terrified as I was at that moment, I also felt incredibly lucky.
I was lucky that I had opted to take the test. I was lucky that the mutation I have, which is one of roughly 1,000 possible BRCA mutations, is one of the three that 23andMe tests for. Otherwise I might not have known about that mutation for years, possibly until after I had been diagnosed with cancer. And I was very lucky that once I got my results, I was able to quickly get genetic counseling from a professional.
Genetic tests are becoming increasingly routine. While their market growth has slowed recently (23andMe laid off 14% of its workforce in January), more than 26 million people have already taken such at-home tests. Like me, many of those people will get scary results.
Results like what I received from 23andMe can be difficult to understand. Although the online service offers plenty of tutorials and explainer videos, those don’t feel like enough when faced with a serious health situation. I still had many questions. Did the results mean I would definitely get cancer? Were there other parts of my DNA that were keeping me safe? What was my next step? Was surgery inevitable?
To answer these questions, I needed more than a tutorial. I needed a genetic counselor — a human being to hear my questions and give me guidance based on deep knowledge.
Fortunately, I was able to connect with a counselor just a few days after I received my 23andMe results. The first thing she told me was that I needed to take a second test to confirm the results, though she also gently let me know that the 23andMe test was FDA approved and the second test would most likely confirm its results.
While my doctors gave me medical advice about my options for surgery versus surveillance, my genetic counselor gave me much-needed support. She explained the science behind my mutation. (BRCA genes, I learned, actually repress tumors. When they mutate, tumors can grow more easily.) She walked me through what I could expect to hear from my different doctors and, maybe most importantly, she offered a sympathetic ear.
For most people, there’s a large gap between access to at-home genetic tests and access to genetic counseling. Anyone with a few extra dollars can order a test online and get their results fairly quickly. But finding someone to help interpret those results can be expensive when insurance doesn’t cover counseling. It can also take weeks to get an appointment and, in some communities, it may be impossible. There are only 5,000 certified genetic counselors in the U.S. That’s one for every 65,440 people. Many states, including Wyoming, Mississippi, and Vermont, have fewer than five genetic counselors for the entire state.
If the Bureau of Labor Statistics is right, that should start to change. It anticipates a growth rate of 27% for genetic counselors between 2018 and 2028, a faster rate than most industries. Some in the genetic counseling field put the growth rate closer to 80%.
But more genetic counselors won’t necessarily guarantee more access. Right now, Medicaid and Medicare pay for genetic testing and genetic counseling only when it is initially recommended by a physician currently caring for the patient.
That means if a physician recommends a genetic test and works with a genetic counselor to help interpret the results, Medicaid and Medicare will cover the cost. But if you take the 23andMe, Ancestry.com, or other direct-to-consumer test and then seek genetic counseling, you will be on the hook for the cost, which will likely amount to more than you paid for the test.
You could, of course, take the results to your doctor, who could then recommend further testing in order to get the genetic counseling part covered. But many doctors today feel unprepared to work with patients at high risk of genetic conditions and are not confident in their ability to interpret results of genetic testing. So as at-home genetic tests proliferate, patients are dropping into a deep knowledge chasm that could affect their physical and mental health as they struggle to understand how to deal with the results.
A bill currently making its way through Congress, the Access to Genetic Counselor Services Act of 2019 (H.R. 3235), could change that. If passed, the bill would pay for people who have concerns to see a genetic counselor without needing to wait for a referral from a doctor. That means someone who had questions about an at-home test result could reach out to a knowledgeable expert with the reassurance that the visit would be covered by insurance.
While some insurers already cover genetic counseling in certain circumstances, this bill (which would apply only to people on Medicare) would go a long way toward encouraging all insurers to cover it. In the long run, this can save insurance companies money. Having surgery last year meant that I don’t need an annual breast MRI, which is standard (and expensive) practice for people with BRCA1 mutations. I’m also now unlikely to get breast or ovarian cancer, which will save my insurance company hundreds of thousands of dollars down the road.
It’s time to close the gap between the genetic information that’s easily available to people and the genetic information that they really need. Genetic counselors are the key.
Dorothy Pomerantz, is the managing editor at FitchInk, a boutique content firm, and the former Los Angeles bureau chief for Forbes.