Alex’s son had seizures from birth until they finally found an effective medication for it six years later. The doctors went through a number of medications first, in what Alex felt was a trial-and-error method, before Alex found out about genetic testing through his own research on the Internet and requested it.
He is disappointed that his doctor didn’t bring genetic testing forward earlier, and that they weren’t ready to change his treatment once they got the results. “We had to ask for [the testing], and push for it,” he explains. “[Learning to advocate for my son] was like finding a secret back door to treatment. And when I say ‘advocate,’ I mean you have to bitch, scream and yell, do your due diligence and get s–t done.”
In the end, his son was diagnosed with an SCN8A mutation. Most kids with epilepsy under-produce sodium in the brain, and the drugs to treat it are made to increase its levels. Kids with SCN8A overproduce sodium instead, so the traditional medications were making Alex’s son sicker. He is now on a sodium channel blocker instead, and he has been seizure-free for more than a year.
This is an increasingly common story, as the era of personalized medicine is upon us, with a rise in genetic tests that inform tailored treatments for everything from cancer to depression. They’re also growing more complex, as genetic testing moves away from single-gene tests that look for one specific issue and toward large panels and even genome-wide sequencing, which scans all 22,000 genes.
A key area of concern is around whether Canada has enough genetic counsellors to meet our needs now and in the future. Those counsellors provide support before patients decide whether or not to order a test. “Genetic testing is so [complex] that it’s important the education provided is really solid, so patients are able to make informed decisions,” says Salma Shickh, a genetic counsellor who is a PhD student at the University of Toronto. Genetic counsellors also work with patients to interpret test results, which includes both explaining the science of it and the emotional side, helping them process what the results mean, for both themselves and their families.
Training and requirements
To become a genetic counsellor, students take a two-year master’s degree in genetic counselling, which includes coursework, research and clinical placements. There aren’t enough programs to train genetic counsellors right now, with only five schools across Canada offering programs and each only accepting a handful of students. UBC’s, which is one of the largest in the country, takes just six students a year. And competition is fierce: Last year, there were more than 130 applicants for those six UBC spots. That’s worse than the ratio for medical school.
The University of Manitoba, which recently started a program, takes just three students. Alison Elliott, a genetic counsellor and project lead of the CAUSES research clinic at BC Children’s Hospital, helped launch it. She says, “It’s a really good place for such a program, because there are a number of unique populations in Manitoba like Hutterites, Mennonites and First Nations.” It can also be a challenge finding clinical placements for students, she adds, because there aren’t that many practising genetic counsellors to pair them with.
Though it’s not mandatory, most genetic counsellors pass certification exams through the Canadian Association of Genetic Counsellors, or the U.S.’s American Board of Genetic Counsellors, which allows them to be competitive in the job market. Genetic counsellors aren’t licensed in Canada, which Sohnee Ahmed, president of the Canadian Association of Genetic Counsellors, would like to see change. “Right now, almost anybody can call themselves a genetic counsellor,” she says. “I would love to see protection of our title through some sort of regulation. I think that would bring a lot more trust to the profession.”
Most work in the genetic department of hospitals, alongside clinical geneticists, who are doctors who specialize in genetics and make the diagnosis of genetic diseases. Because of squeezed budgets and a lack of knowledge of the value of the role, hospitals might not have as many genetic counsellors on staff as necessary, says Ahmed.
Health human resources issues
The Auditor General of Ontario’s 2017 annual report discusses this issue, noting that the number of genetic counsellors in Ontario hasn’t kept up with the growing demand for genetic testing, and that there are now long wait times to see genetic counsellors.
It points out that the province does not have wait-time goals for genetic counsellors, but recommends that the Ministry of Health and Long-Term Care work on creating them. It points to the Human Genetics Society of Australasia’s guidelines, which state that non-urgent referrals should be seen by a clinical geneticist or a genetic counsellor within 12 weeks.
The overall wait times in Ontario aren’t tracked, but the report found that in one hospital, the wait time to see a genetic counsellor for cancer was over six months, and for pediatric patients at another hospital, it was about 14 months. (It should be noted that acute cases—such as issues around pregnancy—are seen in a more timely manner.)
The Ministry, for its part, responded that as part of its Genetic Services Framework Srategy, it plans to create wait-time targets and evaluate how genetics testing is funded and provided, including the services offered by genetic counsellors. This issue isn’t limited to Ontario, with provinces such as B.C. also struggling with it.
It’s important to highlight the fact that wait times are really about a lack of health care providers, says Ivy Lynn Bourgeault, who holds the Canadian Institutes of Health Research Chair in Gender, Work and Health Human Resources and is lead coordinator of the pan-Canadian Health Human Resources Network. “Whenever we talk about wait times, it’s really about access to health workers,” she says, adding that it’s unreasonable that we don’t know how many genetic counsellors there are across Canada, or have a sense of how many we need. “We know a lot about physicians, and we know a lot about nurses, and then it gets pathetic later on [with other professions].”
We also don’t know exactly where they should be, though now most genetic counsellors are in urban centres. In this situation, telehealth is a good solution. “Genetic counselling and telehealth are a great match, because you don’t need to do a physical exam,” Bourgeault says. Ed Brown, CEO of the Ontario Telemedicine Network, says this is already happening in Ontario, through the UHN’s genetic counselling department, the North Bay Parry Sound District Health Unit, and the Kingston Health Sciences Centre. “There are a number of genetic counsellors who are using this right now, and they have been for years,” he says.
Genome wide sequencing: future challenges & benefits
Genetic counsellors are especially important around genome-wide sequencing, which is so new that it comes with its own set of issues. It often reveals incidental results, which aren’t related to the disease that was tested for. For example, genome-wide sequencing to try and pinpoint a child’s developmental disorder might find that the child is vulnerable to a heart issue later in life as well. And it’s not unusual for sequencing to find variants of unknown significance—“basically a brand new spelling mistake in the gene that we’ve never seen before,” says Elliott. “These are very different than a cholesterol test.”
There are two primary reasons for the increase in tests that look at hundreds or thousands of genes, says Ahmed. One is that thanks to different technology, it’s actually cheaper to test multiple genes at a time than it is to just test one. And the other is that it catches more mutations, which provides a more accurate diagnosis.
Elliott is leading a research project called GenCOUNSEL that’s funded by Genome Canada, and looks at how the increase in genome-wide sequencing will affect the need for genetic counsellors, and how to efficiently respond. But its lessons are applicable to the problems around genetic counsellors in general as well.
One key, says Elliott, is going to be deciding who would benefit most from genome-wide sequencing, and in whom a specific genetic test or panel test would be more appropriate.
Another component is having other health care professionals take on more of the responsibility, especially when it comes to ordering more common tests. “The education piece is very important for both primary care and other subspecialists. The literature shows that primary care doctors are not that comfortable ordering genetic tests,” says Elliott.
GEC-KO, which is funded by the Children’s Hospital of Eastern Ontario, is one example of this in practice. It’s dedicated to educating non-genetics health care workers, including primary care and specialists, about genetic testing.
And then there are efforts to increase the efficiency of genetic counsellors themselves. Some genetic counsellors are using online decision aids that people can go through before meeting with a counsellor, or offering group counselling first. “You can address the test from a bird’s eye view, and then have shorter individual sessions,” says Ahmed. “It lets you see more people per day.”
It’s likely that we will need both more efficient models and more genetic counsellors to meet our growing needs, says Ahmed, though it’s not clear exactly what the answer is yet. “Certainly, what we do know is that the number of patients who need this is not going to go down in the future.”