Many people across Canada have problems accessing health care, from finding a family doctor to securing a spot on the operating table. In this series, Advancing Health will explore the current health care climate and share expert insights on how accessing care could change. The second installment features Kennedy Borle and Dr. Larry Lynd who discuss the accessibility of genetic counselling services.
In 2003, the Human Genome Project was completed, ushering in a new era of biomedical science focused on understanding how the genome, made up of thousands of DNA sequences, impacts health. Propelled by curiosity and necessity, the technology used to sequence DNA has advanced at an extraordinary rate, with the cost of sequencing a person’s genome dropping from the initial $2.7 billion for the Human Genome Project to just a few hundred dollars per genome today. With DNA sequencing becoming an increasingly popular diagnostic tool in medicine, it is important to have professionals trained to interpret the results to support patient decision making. This is where genetic counsellors come in.
What is genetic counselling?
The combination of genetic testing and genetic counselling offers insight into risks related to inherited conditions and helps guide personalized medical care. While advancements in genetic sequencing have enabled the identification of genetic markers for various diseases, applying these discoveries within the health care space depends heavily on access to comprehensive clinical genetic services. In medical imaging, a person may be shown their MRI or CT scan, but a trained expert is still required to interpret the image. Genetic counsellors are similar, in that they serve as a critical bridge, helping people and their families understand the implications of genetic information. However, ensuring equitable access to these services remains a significant challenge, as it requires collaboration among genetic counsellors, clinical geneticists, and other health care professionals to translate genetic data into meaningful and actionable information.
This is the focus of Advancing Health trainee Kennedy Borle, a board-certified genetic counsellor with a Master’s in Genetic Counselling and PhD candidate at UBC. Together with her supervisors, Dr. Jehannine (J9) Austin and Advancing Health Scientist Dr. Larry Lynd, her recently published work assessed how common the need for genetic counselling in Canada is and explored how access is related to sociodemographic factors.
“There are a lot of people who would benefit from seeing a genetic counsellor or having genetic testing, but they aren’t making it through the door. Especially as genetic counselling is a very important health care intervention that can happen with or without genetic testing,” said Kennedy. “It’s important to consider how to adequately provide both genetic counselling and testing services for Canadians in a way that’s appropriate, accessible, and equitable, while considering how these interventions impact care both separately and together.”
Genetic counselling is a specialized healthcare service which helps people and their families understand the medical, psychological, and familial implications of genetic conditions. It involves interpreting family and medical histories to assess the likelihood of disease occurrence or recurrence, educating patients about inheritance patterns, testing options, and management strategies, while also providing emotional support to help make health care-related decisions. Accessing genetic counselling services in B.C. can be done in a few different ways. Some clinics, like the Hereditary Cancer Program, allows residents to self-refer, while others, like the Provincial Medical Genetics Program, require a referral from a health care professional. More information about finding a genetics clinic in Canada can be found here.
Unlike genetic testing, which focuses on identifying specific genetic information, genetic counselling is a broader, patient-centered process which involves and impacts generations. Kennedy and Dr. Lynd evaluated the accessibility of genetic counselling, which includes determining disparities in seeing a genetic counsellor due to lack of access, awareness, or unequal referral practices.
Significant unmet need
The most striking finding of Kennedy’s research was that nearly 40 per cent of the 1,160 Canadians surveyed are not receiving the genetic counselling services that they may need. This was determined by the Pathways to Genetic Counsellors Tool, designed by the National Society of Genetic Counsellors to allow individuals to self-identify if they had unmet health needs which could be addressed by seeing a genetic counsellor. To better understand this significant gap, the study also looked at several sociodemographic factors to explore how they were associated.
The unmet need for those seeking genetic counselling was highest among people living with mental health conditions, younger people, individuals with lower capabilities (based on their ICECAP-A score), and those who saw more benefits from receiving genetic counselling. In a subsequent qualitative analysis also conducted by Kennedy, most participants who had self-reported unmet need for genetic testing would not be eligible for funded testing based on their personal and family history, despite having unmet informational and psychological needs.
“Our tertiary genetic system is driven by genetic testing’s growing role in diagnosis and treatment. To meet this need, our health care system has prioritized expanding access to testing, which means revising eligibility criteria, so those who don’t qualify for testing — or where testing isn’t appropriate — have limited access to counselling-only appointments,” said Kennedy. “This focus on testing is fair, as it directly impacts medical decisions, but it leaves counselling support behind. Ultimately, the system isn’t designed to fully address the counselling needs of patients, even as testing becomes more central.”
Additionally, there are limited resources and systemic issues within the health care system which limit access to genetic counselling. For example, Canada graduates only 28 genetic counsellors each year, but many do not work clinically, in part due to a lack of positions, exacerbating the scarcity in the field. This shortage of trained personnel contributes to a high prevalence of unmet need, with additional barriers, such as referral patterns that prioritize genetic testing candidates and a lack of a standardized definition for the “need” of genetic counselling, further complicating the access to care. Not having a general understanding of what genetic counselling is hinders efforts to assess and address the actual demand for these services. The lack of professional recognition and regulation of genetic counsellors may contribute to this confusion, but Kennedy is working towards changing that.
Professional recognition and regulation
As the first President of the inaugural Society of Genetic Counsellors of British Columbia (GCBC), Kennedy, along with her colleagues, are working towards exploring options for the regulation of genetic counsellors with the aim to try and expand some of the practice environments that genetic counsellors can work in, as well as title protection. Without title protection and professional recognition, qualified genetic counsellors face barriers to independent practice.
“Even if a genetic counsellor was able to open their own service, there is no fee structure for reimbursement,” Dr. Lynd points out. “Only those willing and able to pay would be able to receive genetic counselling which would further increase the disparity between those who have access and those who don’t.”
Understanding the several different factors impacting access to genetics-informed care is a key research focus of Dr. Lynd’s, which he and his colleagues have been working to understand and address for over a decade.
Improving access to genetics-informed care
Dr. Lynd and his colleagues focus on genetic testing, genetic counselling, and clinical genetics which includes studying genetic counsellors in primary care, implementing rapid genomic testing in neonatal intensive care units, and exploring whole-genome sequencing in adults. A key component oof his research is assessing workforce capacity to support the increasing use of genetic testing in areas like cancer, newborn screening, and rare diseases.
“Do we even have enough clinical geneticists and counsellors to meet demand, especially in cancer, newborn screening, and rare disorders?” asks Dr. Lynd. “Testing isn’t perfect — false positives, false negatives, and errors still occur depending on the condition and available data. Compounding this, not all tests are covered by insurance and research from our team has shown how out-of-pocket costs create disparities, where only those who can pay have real choice. It’s a layered challenge: scaling services, improving accuracy, and ensuring equitable access.”
Research led by Dr. Lynd looked at challenges of workforce planning for clinical genetic services which indicated there has been a rapid growth in the number of referrals to clinical genetics services. This work was conducted as part of the GenCOUNSEL Project, a Genome Canada-led national initiative that unites experts across genetic counselling, genomics, ethics, health services, and health economics to identify clinical, socio-ethical, legal, and economic strategies for delivering genetic counselling for the implementation of genome-wide sequencing.
