Meet Your New Genetic Counselor
2019 Feb, 21 | Source: forbes.com
When Lauren Rossi’s daughter-in-law got the results of a genetic test for several different types of cancer, the email explained the good news up front: No mutations had been found to indicate a predisposition to cancer. But the email that her son received from the testing firm, Color, advised him to call in to discuss his results. That’s when he learned he tested positive.
A few weeks later, Rossi took the test herself—and was surprised to receive the same dreaded result.
“I was floored,” Rossi recalls. Her family had no history of cancer and she had always been hypervigilant about getting regular mammograms. In fact, she had had one six months earlier that delivered a clean bill of health.
Rossi quickly set an appointment to discuss her results with a counselor from Color. The specialist who gently explained the implications of the discovery of her BRCA2 mutation—in Rossi’s case, it means she has an 86% chance of developing breast cancer in her lifetime—isn’t an oncologist; she is a certified genetic counselor, a member of a fast-growing healthcare profession uniquely equipped to unpack the genetic data unlocked by artificial intelligence (AI).
While genetic counselors have been on the healthcare scene for decades (the first master’s degree in genetic counseling was offered at Sarah Lawrence College in 1969), the mainstreaming of cheap genetic testing in recent years ($100 spit-and-send kits are readily available at drugstores and online) has boosted demand for them exponentially.
Currently, there are 75,000 consumer genetic tests on the market, with 10 new tests added every day. Most physicians lack the training to analyze the genetic data mined by these tests. While 74% of primary care physicians believe that genetic tests are valuable, only 14% feel equipped to interpret their results, according to a recent survey of 488 doctors in New York state.
Fortunately for general practitioners, genetic counselors are available to guide patients through their results: What does a positive detection of a mutation mean? Which findings require urgent medical action and which don’t? How should you share the news with loved ones? Today’s genetic counselors aren’t just advisors—they are advocates, coaches and, to some extent, therapists who can help patients navigate the emotional straits of potentially devastating news.
Rossi, for one, is grateful that a genetic counselor helped her through the difficult process. Armed with the insights that her genetic counselor provided, she underwent an MRI a few days later, which revealed she had stage 1 breast cancer. “I would have preferred stage zero,” she jokes grimly, but she knows how lucky she is to have had the test catch it early.
“It’s just amazing. By the time this showed up on a mammogram or maybe an ultrasound, it would have been a different story for me,” she says.
Counseling Patients—and Their Doctors
Thanks to the skyrocketing popularity of 23andMe and Ancestry, genetic testing reached a tipping point in 2017. The number of genetic tests performed more than doubled in one year, with 12 million people having their DNA analyzed. That growth is only expected to continue: The genetic testing market will rake in $22 billion annually by 2024, research firm Global Market Insights predicts.
“A huge number of the genetic tests on the market are really just for fun,” says Alicia Zhou, VP of research and scientific affairs at Color. “They’re more like infotainment. It is recreational genetics where you’re going to learn about something that you already probably know by looking in the mirror.”
For Burlingame, California–based Color and other companies whose clinical-grade tests must be ordered through a physician (rather than direct-to-consumer kits like 23andMe), the priority isn’t fun. It’s gleaning actionable medical insights. Color tests for eight common hereditary cancers in its cancer panel, mapping 30 genes. It also scans for heart diseases like cardiomyopathies as well as pharmacogenomics, which uncovers how a client’s body metabolizes various medications.
For its full slate of tests, Color charges $249, but unlike most testing services, that price includes one-on-one consultation with a genetic counselor for every client. Counselors also follow up with the patient’s primary care physician. That includes explaining genetic statistics, possible and probable disease outcomes, treatment benefits and risks, and recommended lifestyle changes. Geneaologic clinical testing by other companies like Quest Diagnostics, GeneDX, and Blueprint Genetics can cost anywhere from $250 to $5,000 (or as low as a $100 copay if insurance covers it), but typically they do not offer genetic counseling.
“We make the same counseling services available to clients’ providers, regardless of whether or not that provider ordered the testing,” explains Lauren Ryan, Color’s head of genetic counselors. “There’s no way that general practitioners could develop a deep expertise in every single gene that is available for clinical testing right now. That’s the point of specialists. But offering that support to providers, I think, is essential.”
One Genome, One Million Data Markers
A DNA test’s results—a standard genotype analysis makes nearly a million measurements of a person’s genome, highlighting variants that point to disease risk—can be complex and confusing. Case in point: Testing positive for mutation does not necessarily mean you will develop a disease; likewise, a negative result doesn’t mean you’re free of risk. Parsing disease risk probabilities, let alone processing an unexpected result, can be emotionally overwhelming.
That’s where a genetic counselor’s understanding of both genomics and psychology prove invaluable.
“A huge part of genetic counselors’ training is in psychosocial counseling,” Ryan says. “We learn about medical genetics, and we also learn about the emotional and psychological aspects of receiving this type of information.”
A genetic counselor’s job is not merely to explain complex test findings—it’s to help patients chart a course for how to use that knowledge proactively.
“The way we think of ourselves is not as a genetic test so much as trying to increase access to life-saving technology like genetics to affect patient outcomes,” Zhou says. “Genetic counseling is a key component because you need a person to help bridge the gap between getting a result in your hand and doing something with that result.”
That includes alerting relatives who might also carry the mutation. After discovering her BRCA2 findings, Rossi shared the news with her siblings, both of whom believed their family had no genetic predisposition to cancer, and her late brother’s two daughters. “Sure enough, all three of my siblings have the mutation, and so do a niece and nephew,” she says.
Can AI Close The Genetic Counselor Gap?
In 2017 alone, Ancestry provided genetic data to seven million Americans, and 23andMe, the second most popular service, ran tests for another three million. But it would take years, perhaps decades, for each client to parse their DNA data with a trained genetic counselor.
The reason? According to Erica Ramos, president of the National Society of Genetic Counselors (NSGC), there are currently only 4,900 certified genetic counselors working in the U.S. That means that approximately only 1 in 100,000 Americans has access to a clinical genetic counselor.
“We will probably get to 1 in 75,000 in the next four to five years,” Ramos says—despite the fact that only 43 accredited programs in the U.S. are training genetic counselors today.
For the genetic counseling field, that still reflects stratospheric growth. According to Ramos, the number of genetic counselors has almost doubled in the past 10 years and is expected to grow by 75% over the next decade.
Given their current relative scarcity, finding a genetic counselor can be challenging at times. More than a quarter of certified genetic counselors work in research labs or for biomedical companies that are not consumer-facing. Of the rest, many work in doctors’ offices and hospitals, for insurance companies and genetic testing firms, or in private practice. The National Institutes of Health, the Centers for Disease Control, and professional organizations like NSGC offer online resources to find local genetic counselors.
Nevertheless, some areas of the country remain “deserts” of genetic counseling access, but technology, such as remote counseling via Skype and Facetime, has improved accessibility.
Startups are even developing AI software to provide some of the services that genetic counselors traditionally offer, especially in the pre-testing phase. For example, Clear Genetics is beta testing a chatbot to guide patients through the preliminary steps of their genetic test, including answering questions about test options and collecting data about their family’s medical history.
Another AI tool in the works: software to extrapolate the best drug treatment for an individual patient based on their unique genome map. Startups Deep Genomics and Sophia Genetics are among the innovative biotech companies developing AI platforms to help physicians determine personalized chemo and drug treatment plans based on DNA makeup.
But no matter how far the technology advances, Ryan doesn’t believe AI will ever replace a human genetic counselor.
“By its nature, genetic counseling is a very high-touch human process,” she says. “I don’t think that any technology could ever, or should ever, strip that human aspect out of the process. But I do think that there is a huge opportunity for software to help evolve the profession.”
That includes advances in rapidly evolving precision medicine tools such as CRISPR and gene-modification therapy, but there too Zhou sees an indispensable role for genetic counselors.
“Where CRISPR is different is that we haven’t historically been able to manipulate the actual DNA, but that falls in line with choices that people have to make today about preventing disease or having healthy children,” Zhou explains. “Genetic counselors are very well positioned to have strong and difficult conversations with families about decisions that tie into using those technologies.”
Zhou firmly believes that the need for genetic counselors will only increase as DNA testing becomes a permanent fixture in the healthcare landscape.“
Someday soon, every newborn will get a whole genome sequence, and that data will get populated into their electronic health record and used their entire life as a signal for them to manage their health,” she says. “It’s not a matter of if, but when.”