By Paul Nicolaus
October 12, 2017 | At the age of 29, Lee Cooper’s heart stopped beating.
The night before, he celebrated his wife’s birthday, had a few drinks, and went to bed. The next morning, he didn’t wake up. Instead, gasping sounds woke his wife in the early morning hours.
She called 911 and performed CPR until the EMTs arrived on scene. “I was unconscious for a day or two and woke up in the hospital,” Cooper said, and he remained there for over a week.
Following this December 2016 scare, genetic testing revealed that Cooper suffers from Long QT Syndrome (LQTS), a rare monogenic disease that can elongate the heartbeat’s rhythm and lead to cardiac arrest.
At first, he didn’t quite believe the news. He was healthy, after all. He’d been backpacking in Glacier National Park that summer, and that very week he’d even taken a run around the Charles River in Boston. Eventually, though, he came to terms with this new knowledge.
There is one notion that has been even more difficult to deal with, however. As Cooper pointed out during a panel discussion at the 2017 Aspen Ideas Festival, he is a carrier of this deadly gene.
Each of his future children have a 50/50 chance of inheriting the disease, and this hypothetical coin toss has opened up a whole new world of thoughts and considerations.
Thankfully, Cooper told Diagnostics World, this all happened before he and his wife started a family, which is arguably the best time to seek the guidance of a genetic counselor. “It’s better to have genetic knowledge in hand and be able to act on it as a preventative measure before you have to act on it in a reactive way,” he noted. “The earlier in the process that you have the information, the more options you have in terms of planning ahead.”
There are opportunities to discuss risk factors, such as a family history of inherited disease or being part of an ethnic group with increased odds of developing certain diseases. There is also the chance to consider carrier testing to screen for genetic mutations that could cause serious disorders such as cystic fibrosis or Tay-Sachs disease.
When couples decide to go that route, most of the time the results come back showing there is not an increased risk, explained Jason Flanagan, director of genetic counseling at Sanford Health and one of only a handful of genetic counselors in the nation working in a reproductive clinic. In those instances, the test results serve as a form of reassurance.
Couples who undergo testing and learn of a concern can learn more about the condition in question and consider the reproductive options available, such as artificial insemination using sperm from a donor who is not a carrier or preimplantation genetic diagnosis (PGD), which can be used to test embryos and screen away certain conditions. Still other couples pursue adoption or decide not to have children at all. At this stage, the process is all forward looking.
The reality, though, is that individuals or couples more frequently make their way to genetic counselors after they become pregnant, and at that point the conversation is inherently different. Questions arise about whether to test the baby and what to do if those results come back positive. “For some couples, it might include things that are controversial in our society—whether they choose to terminate or not terminate the pregnancy,” Flanagan said.
Part of the role of genetic counselors is to help patients decide what level of information is right for them, while providing emotional support during what can be a challenging and confusing time. For some, the more information the better. Others, however, don’t necessarily want to learn every detail possible. “I think the great thing about our profession is that we try to figure out what the clients or the patients want,” he added.
This ability to make sense of complex genetic details, translate that into easy-to-understand information, and equip patients to make well-informed choices is in hot demand at least in part because the number of genetic counselors remains so small.
According to the U.S. Bureau of Labor Statistics, only 2,400 genetic counselors were employed in the U.S. as of 2014. By comparison, there were just 300 genetic counselors in the United Kingdom (UK) as of 2011, according to a paper drafted by a European Society of Human Genetics (ESHG) working group, and even smaller numbers throughout other parts of Europe.
As of August 2017, there were 4,572 certified genetic counselors total, according to Sheila O’Neal, executive director of the American Board of Genetic Counseling (ABGC) and the Accreditation Council for Genetic Counseling (ACGC), and of that number 4,246 are in the U.S. The remaining counselors reside in a number of different countries, she noted, with the largest contingent in Canada.
Factors such as the decreasing cost of DNA technologies, the increasing number of genetic sequencing and testing services, and major research endeavors like the 100,000 Genomes Project in the UK and the Precision Medicine Initiative in the United States have all contributed to the spike in demand.
Traditionally found in clinical settings, genetic counselors are now working at nonprofit organizations, government agencies, universities, and commercial diagnostic laboratories. While some, like Flanagan, specialize in reproductive health, others find their niche in areas like cardiovascular disease, metabolic disease, cancer, neurology, pediatrics, or pharmacogenetics.
An interorganizational group of genetic counselors dubbed the Genetic Counselor Workforce Working Group (WFWG) has taken on the task of better understanding what the workforce looks like now, what it’s going to need to look like in the coming years, and what needs to be done to meet that growing need.
They commissioned a workforce supply and demand study of United States-based certified genetic counselors over the next decade (2017-2026), which revealed that the workforce has grown by 88% from 2006-2016 and an additional growth of 72 is expected over the next decade.
One of the challenges of growing the profession relates to the training of new professionals. Although specific requirements vary across the globe, in many cases the skills required to become a genetic counselor must be learned through a master’s degree program.
There are currently 37 accredited genetic counseling master’s programs in the U.S. and four in Canada. Educational programs can also be found in several other countries across the globe, according to the Transnational Alliance for Genetic Counseling.
One crucial component of the educational experience in the U.S. comes from hands-on learning where a student works side by side with a certified genetic counselor in a clinical setting, explained Katie Stoll, director of clinical services at the Genetic Support Foundation. But the amount of clinical sites and supervisors available to take on students is limited, and this makes it difficult to scale up programs and graduate greater numbers.
“Part of what the Genetic Support Foundation is interested in doing is developing tools and resources to help convey impartial information about genetic testing options to both patients and providers,” she said.
The organization has put together a series of educational videos for patients as well as CliffsNotes-like summaries for providers. It’s one way of extending the reach and expertise of genetic counselors while the profession continues to play a game of supply and demand catch-up.
Since Cooper’s health scare nearly a year ago, genetic counseling has played an important role while he and his wife have explored the potential impact of their DNA. While testing can both inform and complicate family planning, he sees the whole experience as a blessing in disguise.
“It sounds crazy, but in some ways I was lucky that this happened,” he said of his near-death experience. It occurred at a fortuitous time when the couple had begun thinking about kids but hadn’t yet started a family. “So now I have that information to start digging deeper.”
Cooper admittedly had a head start in this regard. Before becoming a patient, he already had a firm grasp of genetics and inherited disease thanks to his professional background in the biotech space. At Moderna Therapeutics, he raises money from investors and forms collaborations with pharmaceutical companies to accelerate drug development.
For him, it’s been beneficial to take that understanding to another level. His own genetic counselor has helped parse through some of the tricky nuances of statistics and direct him to additional resources.
“What I’ve learned first-hand is that genetic counselors are very important because they have a distinctive knowledge base and a distinctive skill set,” he said. “I am certainly valuing the conversation that we’ve had with a genetic counselor.”
In hindsight, though, it was at least a bit unsettling to Cooper that he did not come across the possibility of preimplantation genetic diagnosis earlier on, and did not hear about this option from his genetic counselor.
The experience concerns him from a systemic perspective. If it took him a bit more probing to come across PGD, he wonders if it could take those who are less well versed in the realm of health and medicine even longer. And maybe some never get there at all.
Genomic information is happening and it’s amazing, Cooper said, but when the conversation turns to family planning and especially talk of IVF and forms of genetic screening there are societal taboos associated with these topics. It’s a problem, he believes, to the point that some medical professionals are uncomfortable talking with their patients about reproductive technologies and the actionability of genetic information.
“If we begin to think about our genomics not as diagnostic tools but as prevention tools I think we can have a huge impact and a positive impact on eliminating or reducing the burden of certain diseases,” he said. “I would never suggest that everybody take the same approach to their family planning,” he added, “but I am a believer that everybody should be educated about what the options are out there in order to make the best decision for them and their family.”
Future (and Past) of Genetic Counseling
Ultimately, Cooper sees carrier testing as the real game changer. “I think pushing people more upstream towards carrier testing rather than prenatal testing is going to be a really, really important shift in our culture,” he said. “That’s when we’re going to start seeing the power of genetics because understanding what we carry is much more powerful than understanding what the baby we’ve already conceived carries.”
But the growing push for more testing is the main factor that concerns Stoll as she considers the profession of genetic counseling at large and the direction it seems to be headed in. Previously, testing was handled in hospital-based labs, and there wasn’t a big commercial interest in selling tests. No slick brochures, no social media.
“Now it’s really different,” she said. There are nearly 70,000 genetic testing products on the U.S. market alone, according to a Concert Genetics report, and an average of 10 new testing products enter the market every day. “We’ve got big businesses that are pushing these tests, and they want to see them utilized by as many people as possible.”
“There is so much material that’s going out to healthcare providers and patients as educational materials,” she added, “but they’re really oftentimes more marketing materials from the testing labs than balanced education pieces.”
As the profession peers into the future, it can be useful to think back on when and why the field of genetic counseling emerged in the first place. It essentially began, she explained, when the first class of master’s degree genetic counselors graduated from Sarah Lawrence College in Bronxville, N.Y. in 1971.
This occurred during the women’s rights and reproductive rights movement but also in response to prior eugenics practices in the U.S. As testing technologies came into play and women had access to abortion, there was an interest in figuring out how to ensure that tests and information were rolled out in an appropriate way.
“There was a lot of concern from the initial founders of our profession to make sure that patient autonomy was really protected and that people wouldn’t be coerced into genetic testing or into any action based on that genetic testing,” she explained.
“The routinization of these tests is not a direction we want to go in,” she added. “There are a lot of forces that are kind of pushing us in that direction, and I just think that everybody involved in this profession needs to be taking a lot of care in making sure that that doesn’t become the case.”
In many ways, it boils down to one central question: Do you want to know something about a genetic condition that could be present in your baby, and if so, what would you do with that information? “Obviously, that information is so personal,” she said, “and people’s decisions about that testing are so personal.”
Cooper couldn’t agree more. When asked of his latest family planning decisions, he preferred to keep those details private. But he did share his big picture vision, noting that genetic counselors will likely assume a crucial role in the way the genomics revolution plays out even if it is a bit unclear at the moment what that role will be.
“You have overlapping worlds of reproductive medicine, genetic medicine, genetic counseling, and then of course all the specific diseases associated with the genetic information,” he said. “So you have all these different worlds colliding, and genetic counselors in some ways are right in the middle of it.”
On the one hand, this could lead to their empowerment. On the other hand, they could be pulled in too many different directions or spoken over by other groups. In the midst of all this uncertainty, one sure bet is that this dynamic and the way it unfolds in the years to come will wind up shaping the future of patient health and care.
Paul Nicolaus is a freelance writer specializing in health and medicine. Learn more at www.nicolauswriting.com.