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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.

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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.

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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.

  • My 23 and me test didn’t show any of the Breast and ovarian ca genes. I had recently thrown a pulmonary embolus and was on warfarin therapy. They were unable to stabilize my test results and I was being tested almost every 5 days. My mother had been on warfarin for several years and she was never allowed to go more that 2 weeks without reevaluation. So imagine my surprise when 23 and me reported that I had an increased sensitivity to warfarin. I was able to convince the clinicians I needed to change. I was placed on Xeralto (sp?) and much happier. I’ve never had a repeat PE and was only on Xeralto (sp?) for 6 months. I am happy I had the test.

  • Today, individuals don’t need to have a prescription in order to get a genetic test. When you see a genetic test professional, they determine if you meet the criteria for testing and explain the test in detail. They send it to a lab that charges thousands for the test, and about $500 for the charges of the genetic counselor.

    Today quality genetic testing is available online. You just have to research the lab. Color Genomics is an efficient quality test for consumers. Many in our family have been tested through them.

    The problem with traditional genetic testing is that it takes weeks to get an appointment see a genetic counselor. Time has to be taken off of work. Before even getting there, one has to take time off work to see a doctor and pay the doctor for the referral to get the test.

    The appointment with the genetic counselor takes an hour. Already the patient has lost two complete afternoons of work to take a simple diagnostic test at a cost of about $4600.00.

    The patient then had to go to a lab to take the test. In the past, genetic counselors were requiring individuals come into their office to get the results, which, with the doctor’s visit entailed three visits and a lab visit. Many are now offering phone counseling as patients were facing problems with their employers as a result of the traditional genetic testing methods. It was costly and it was burdensome.

    Through Color Genomics, where we chose to test various members of our family, the cost is $250 a person, and, if positive less for each family member, saving $30,000 for a family of six for testing.

    Color ships the test. The patient follows the directions, spits in the bottle and sends it back. The results are back within a few weeks. Weeks and months of uncertainty while waiting to get the test are eliminated. If you positive, the patient receives a telephone call from the genetic counselor. They have some excellent ones on board. Or if not positive, they receive an immediate email. That is something that doesn’t occur with traditional testing.

    Sloan Kettering Cancer Center conducted a study and found that the standards of care Utilized to qualify patients for genetic testing for Lynch syndrome missed many. Our experience with traditional genetic testing was complicated.

    With online testing, there are no standards. There’s no one to assess you. There is no insurance company that is notified when billed, that you may have a hereditary condition and which may flag you, and members of the family, as a result. In most cases, however, with their enormous database, they are able to tell if someone And members of their family possess a predisposition to cancer.

    I wrote about our family’s experiences with genetic testing in my book, My Father’s Daughter, A Story of Survival, Life, and Lynch Syndrome Hereditary Cancers.

    It is a story of generations of a family that battled various challenges to survival, including a n undiagnosed “family cancer thing.” I spent 11 years advocating for individuals with hereditary cancers. My husband and I founded the first Lynch syndrome global cancer organization in the the world.

    I can attest genetic testing saves lives. I can also say that I am excited about direct-to —-consumer-testing, because an immense barrier resulting in people who can not afford the genetic test for hereditary cancer can now obtain them. They, too, will have a chance to obtain preventative screenings. Unlike others who came before us, who died of cancer, today, we live. And I’m grateful to Color Genomics and the great job that they have done on their online site, getcolor.com, in making certain patients like those in our family receive quality testing and genetic counseling.

  • There is indeed a need for genetic counselors, but there’s a similar and more urgent, broader need for well-informed coaches for a variety of less “innovative” health topics – starting with nutrition, behavioral health, pre-diabetes and diabetes management and the like. Unfortunately, they don’t get the same attention as genetics.

  • I think the 23andMe tests are more accurate than what you get from most laboratories. The 23andMe tests have gone through thorough testing and FDA review — they are listed on the FDA’s web site. Most laboratories have no independent confirmation of their accuracy. Labs, and their doctors, make mistakes yet they are fighting hard to not be regulated by FDA — they do not want to exposed their inadequacies.

    • On the contrary, the testing labs that medical geneticists and genetic counselors have trusted for decades are very accurate and are subject to oversight through other agencies like CAP and CLIA. The FDA has never been involved in regulating genetic tests nor likely many of the other lab tests you doctor orders for you (cholesterol, blood glucose, etc.) but 23andMe flaunts their FDA approval as a marketing tool because the average consumer equates it with safety. In fact, a study came out a couple of years ago that found 40% of mutations these at home direct to consumer genotyping tests identified were actually false upon confirmation.

  • I’m a little worried that tying government payers and regulators into these cheap genotyping services will somehow ruin them and bring runaway costs. Hopefully we can figure out how to reimburse genotyping and counseling services without killing the goose that lays the golden $100 microarray.

    I am also skeptical of the notion that we need personalized face-time with counselors. We can easily automate a lot of this patient education. Anything that requires 1-1 interaction is going to be very expensive, yet people will demand it out of some desire to show off their virtuous and compassionate natures. Let’s make sure we are personally being compassionate and publicly reimbursing for health outcomes, not subsidizing show-compassion from counselors.

    My partner has regular scheduled visits with a counselor for her BRCA1 status. She says it is useless, but she goes anyways because our insurance covers it. The counselor has essentially found a way to pay himself for a useless service out of the public coffer.

    • I wonder if he’s just not very good at his job? Or perhaps your partner is just especially savvy?

      Other patients may have a much harder time interpreting the results, navigating their options, or processing the emotions surrounding the process, especially if the outcome is bleak.

      Genetic counselors are inexpensive compared to physicians, and pre-test counseling significantly increases the likelihood that a person will follow through with testing/surgery (when necessary).

      All in all, reimbursing for genetic counseling seems like it will positively impact health outcomes (and it’s certainly cheaper than cancer).

  • I haven’t done 23 and me, but thanks to genetic testing done well before the genome was sequenced and heavily studied, I know of a significant genetic marker in my family (family members were studied as part of a research study into Downs syndrome & cancer). I’d love to get more information – but am worried insurance wouldn’t cover it and anything else (23&me etc) is just superficial quackery.

    • The “superficial quackery” of 23 and me is what informed the author of her BRCA1 mutation and extraordinarily high risk of developing two cancers– ones she was able to take prophylactic measures to avoid, thanks to her DNA test. I’ve never taken a DNA test and wouldn’t take the results as gospel if I did — I’d get confirmation, as she did. But I certainly would not dismiss them out of hand.

    • If you’re worried about being at higher risk of cancer, 23andMe is indeed “quackery” for much of a the general population because it only detects the three Eastern European Jewish BRCA mutations. Mind you, there are 1000s of BRCA or other gene mutations found in the rest of the population that can make a person at high risk. This author just happened to be in the small percentage of people who have one of the few mutations that the 23andMe test is designed to find.

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