It happened many years ago, but Erynn Gordon remembers clearly when the 25-year-old mother she was counseling said she was going to have a hysterectomy. Gordon, a genetic counselor, was working at a neuromuscular clinic, and the young mother’s only child had just been diagnosed with Duchenne muscular dystrophy — a frightening, lethal disease affecting boys. It is linked to the X chromosome, and males who have it (they’re usually diagnosed between 3 and 5 years of age) die in their 20s after progressive muscle deterioration leaves them paralyzed, albeit cognitively normal.
The mother was devastated. She wanted to be certain she would never pass on this genetic defect to another child. Even the thought of prenatal testing offered her no hope, as she was deeply religious and would never terminate a pregnancy.
Gordon asked the understandably distraught mother to postpone making such a dramatic decision. Gordon told her that although the prognosis for her son could not be changed, she might one day want other children. She told the young mother about a sperm-sorting technology that could filter the sperm based on whether it carried an X or a Y chromosome. It’s used pre-conception, and the mother could then be inseminated with X-bearing sperm, which would preferentially select for a girl (who could be a carrier for the disease but would not be affected).
“Ultimately, that’s what the family chose to do,” says Gordon, a longtime genetic counselor now on the clinical team at genetic testing company Invitae, based in San Francisco. “‘What would you do?’ is a question that genetic counselors are trained to never answer. Like in this case, the things we’re talking about with patients are very personal decisions, ones that can have severe ramifications. We’re there to give all the information they need to make that decision, but it’s vital we don’t make them feel shamed or that we don’t approve of the decision. Because the right answer is different for everyone.”
This case is a glimpse into the daily ethical, medical, and moral dilemmas genetic counselors help patients navigate. The endings aren’t always happy. (In fact, after two sperm-sorting attempts failed to result in a pregnancy, the couple had another boy who was DMD positive.) But counselors like Gordon, past president of the American Board of Genetic Counseling, know there is tremendous value in giving patients the information they need to make informed decisions, even if some paths offer only degrees of distress.
Genetic counselors say this is a critical time for their profession. Even though counselors have been under a spotlight since Angelina Jolie’s public decision last year to have a double mastectomy after genetic testing, people still don’t have a clear understanding of what counselors do and what they don’t do. Because of this, patients are often unaware of the nesting boxes filled with questions that genetic testing often presents — and the need for GCs to help them thoughtfully meet each demand.
According to the American Board of Genetic Counseling, as of press time, there are only 3,193 certified genetic counselors in the country. States rely on this certification as a benchmark for licensure, which is a relatively new process. This process is an attempt to protect the public from folks who would call themselves genetic counselors without the training to do so.
The profession is in dire need of new counselors for three main reasons: Patients and doctors are becoming more familiar with a genetic, personalized approach to medicine, driving demand for more genetic testing and thus more counseling to interpret those tests; more consumer companies are offering genetic testing (often with minimal ability to put those tests in context for consumers); and medical technology continues to develop, allowing for more diagnoses and treatments based on genetic information.
By their nature, genetic breakthroughs require distinct areas of specialization on the part of genetic counselors to understand and communicate with patients as well as other members of the healthcare team. That’s why most genetic counselors end up in non-primary care settings — working at a laboratory or specializing in patient categories (prenatal, pediatrics, adult onset) or disease type/location (cancer, cardiology, neurology).
Meg Menzel, a senior genetic counselor at Children’s National Medical Center in Washington, D.C., has been a practicing GC for 14 years. Her background is not unlike most genetic counselors in that she has done “a little bit of everything” — counseling everywhere from a hospital in New York City to a cancer center to the office of a private geneticist. Although she has counseled at adult and pediatric offices, she now focuses on prenatal medicine. Her path mirrored the industry’s. Where one used to see genetic counselors mostly in large academic hospital centers, now there are many in more private-practice settings.
“Post-Jolie,” counselors say they are busier than ever, although they also deal with more false preconceptions than before the actress highlighted the work they do. Most see six to eight patients a day for counseling sessions that vary from a half-hour to two hours. Realizing there is no “typical” counseling session, most appointments consist of at least three components: a discussion of family history (often focusing on hereditary diseases or conditions); a look at what current tests or diagnoses have shown (example: Are seizures indicative of a possible genetic condition?); the screening or testing options available (for instance, a pre-conception test to see if the cousin of someone with cystic fibrosis is likely to have a child with CF); and the implications of a patient’s decision.
Throughout such sessions, counselors look for patterns beneath the surface, beyond obvious associations such as “I have a great-aunt with breast cancer.” As they search for constellations of symptoms that might travel together, every aspect of the session can become vital.
Some decisions are straightforward. You’re a male in your 40s, and you tell your counselor there is a history of drowning in your family, even though they were good swimmers. The counselor suspects a hereditary arrhythmia syndrome, which tests conclude is accurate. Your medical team recommends you implant a defibrillator, which one day saves your life.
More often, though, the issues raised by genetic counseling — or, more specifically, by a lack of genetic counseling — and testing are more complex and the results less assured. One common problem is that of “incidental findings.”
Menzel gives an example: A 3-year-old child with developmental delays is brought into a pediatrics clinic, and standard testing reveals nothing unusual. The doctor then orders a whole genome sequencing test to find every possible mutation that could be causing the delays. The parents, who are wealthy enough to afford this expensive process, hope they’ll get a magic answer. But the lab doing the sequencing doesn’t filter out (as many labs do) information that shows adult-onset results. The lab results ultimately show nothing that reveals why the child is having developmental delays, but they do show a BRCA mutation, a gene mutation associated with risk of breast and ovarian cancer. And, as Amy Sturm, a certified genetic counselor and associate professor of internal medicine at the Wexner Medical Center at The Ohio State University, notes, new guidelines from the American College of Medical Genetics and Genomics say specific incidental findings should be reported to patients. In such a case, medical, psychological, and insurance concerns will flood the unsuspecting family.
“It’s irrelevant to the clinical presentation, but now we’ve raised this tremendous other problem, with information the parents could have decided they wouldn’t want to know at this point,” Menzel says. She says she would have offered the parents the right to opt out of receiving adult-onset information or suggested a lab that weeds out that information.
Sometimes the challenge is just the opposite. All the technology and guidance in the world can’t give patients a good answer — or at least an obvious answer — as to what’s best for their case, or sometimes even what the disease is. The concern, Menzel says, is that post-Jolie, many patients have a better understanding (and are more often seeking) genetic testing, but not counseling.
“Often patients think because of how advanced genetic testing is now, they will get an answer, but that’s not always the case,” she says. “It’s very tough with prenatal, for example, because often the best we can do is look through the mom. We can see the baby has five fingers, but we have no idea if they’re moving properly. If we test and the baby has Down syndrome, we know what that means. We know the spectrum of the disease. But if we do test and all our tests come back normal, but we’re seeing imaging issues that concern us, we have an unknown, and that’s still the biggest challenge. Because even with whole exome and whole genome sequencing taking off, much of the time the mutations we see in genes, we still don’t know what they mean.”
Counselors say the trickiest part of their job could be navigating the delicate tensions that arise in families when discussing heredity and disease. “A lot of the conversations revolve around encouraging people to share their information, especially when the findings could affect other family members, so that other people can then decide if they want to be tested,” Gordon says. “But some people don’t want to share. They don’t want to be responsible for delivering that information. You can give them resources that allow them to do that, but sometimes your hands are tied.”
Such conundrums are frequent, especially in a pediatric setting. How do you communicate disturbing findings to children? When is the right time to do so? What if one child is affected but his sibling is not? What if there is a 50 percent chance your daughter is a carrier for a disease? When do you tell her? Do you test her? At what age?
Those difficulties aside, it’s such discussions, not simply the testing, that form the foundation of genetic counseling.
“The time we spend with families is huge,” Menzel says. “Doctors don’t have the time. We do. One hour, two. It’s necessary to go over all these concerns families don’t see before they come in. Sometimes families who’ve done all the research come in and still don’t yet see the ethical concerns, the potential drawbacks, to the decisions they’re going to make. We help them make informed decisions. That’s the rewarding part.”