NEW YORK – A clinical trial underway at the University of British Columbia is evaluating possible benefits of integrating genetic counselors within the primary care setting.
As part of the study, dubbed ACCESS-GC, investigators are installing a single genetic counselor on site at a primary care clinic to provide personalized genetic care within the community. From there, they'll consider ways to expand.
Eventually, insights from the study could inform a new model for how genetic services are delivered within British Columbia. "This is just the beginning," said Jehannine Austin, project lead and a professor of medical genetics and psychiatry at UBC. "We're hoping that if we're able to generate evidence that shows that [this model] is useful, it will be picked up by others."
Many people who could benefit from genetic counseling aren't able to access these services or might not know how to access them, according to Austin. In fact, UBC researchers previously found through a survey of more than 1,100 participants that 39 percent of people in Canada could benefit from genetic counseling but had not received it.
That's in part because genetic services have typically been considered part of tertiary care settings and require a referral, siloing them from routine care. And barriers to access are pronounced in rural and other underserved areas due to geographic distance from clinics that have genetic counselors, among other challenges.
"There are a lot of gaps in who has access to genetic counseling services," Austin said. "We hope [the study] gives a broader range of people better access to genetic services, essentially."
For the ACCESS-GC study, Daniel Evans, a family practice doctor who sees patients at a clinic in Victoria, British Columbia, will work directly with a genetic counselor to figure out how best to utilize the counselor's skills to support the clinic.
Evans has been interested in genetics and integrating it into family medicine for years and holds a Ph.D. from the Memorial University of Newfoundland, where he studied human genetics. He said the firsthand experience he gained studying genetics while technologies such as whole-genome sequencing and whole-exome sequencing were becoming more widely used helped him understand the potential of genetics and the need for personnel who can interpret this information for patients and other clinicians. Not every physician has had that experience.
"I think there's a big need for family medicine to have a holistic approach where we're thinking about principles of genetics in our practices," Evans said, noting he treats patients with hereditary and complex disorders influenced by genetics as well as patients who generally have questions about their family history or new genetic tests.
The genetic counselor participating in the ACCESS-GC study, Prescilla Carrion, who works at the University of British Columbia, started at the clinic in late September. The first step of the collaboration at the primary care clinic will comprise "team-based mapping," in which Evans and Carrion will explore her scope of practice and the value she'll be able to offer patients and identify scenarios in which they can work together. After they complete that process, then she'll begin offering services to patients.
"As a family doctor, having access to a genetic counselor in a team-based setting is going to help me offer my patients the best care that I can," Evans said. "It's a really exciting time to be practicing medicine, but also, things get more complex over time," he added, referring to advancements in genetic medicine. "It's helpful to have a team around us that can help us do what we need to do."
A core goal of the clinical trial is to evaluate the effectiveness of embedding a genetic counselor within primary care, including studying whether this approach will improve clinical outcomes, what the patient and physician experience is like within the program, and the extent to which it can shorten wait times and other barriers to accessing genetic counseling.
Researchers will also model the economic impact by assessing whether there are tasks that the genetic counselor is able to take on that are currently done by the primary care physician and whether that contributes to cost savings for the healthcare system. Genetic counselors' involvement in certain tasks, such as ordering genetic tests, may also save money by ensuring the appropriate test is ordered.
Further, if Carrion, the genetic counselor, has capacity outside of her work at the clinic, Austin said researchers are considering setting up a consultation service to connect her with other family doctors in the area.
The nonprofit Genome British Columbia has provided funding to support the program for two years.
This project represents one approach to try to improve access to genetic services within patient care, which has been an area of interest among genetic counselors and other clinicians. There's a growing list of ways genetics can be integrated into routine care, such as part of risk screening or using pharmacogenomics to inform prescribing decisions.
"If we are actually going to deliver on the promise of precision [in medicine], there's been a lot of talk over many years about how, really, the most sensible place to be trying to implement it is primary care," Austin said. But many primary care physicians, who already have other demands on their time, don't feel prepared to integrate genetics on their own.
That opens the door for support from practitioners such as genetic counselors who can help patients understand conditions that have a genetic component and interpret genetic information; however, many primary care physicians don't know what genetic counselors do.
For example, primary care physicians might have the misconception that genetic counselors mostly work with patients with rare diseases, Austin offered as an example.
The ACCESS-GC study isn't limited to specific conditions, and it's expected that the genetic counselor could provide various types of support such as documenting family histories, consulting on appropriate genetic tests and interpreting results, and answering patient questions about genetics in the clinic, potentially without a referral for a separate appointment.
That could include rare diseases with a genetic component, as well as more common multifactorial disorders like cardiovascular or psychiatric conditions, Austin said. A patient for whom psychiatric conditions run in their family might have questions, for instance, about risk factors and what they can do to manage them, which is a type of counseling that would be challenging to get elsewhere. But, a genetic counselor who's on site may be able to address those questions within the context of the primary care setting.
"There are going to be some situations where the team together is providing shared care, and in other situations, the genetic counselor might be able to do pieces alone," Austin said. Overall, the goal is to create a multidisciplinary team-based model of care. Figuring out the best process will likely evolve as the project continues.
The ACCESS-GC study builds on previous research Austin and colleagues conducted exploring perceptions and attitudes about genetic counseling within primary care, and assessing how these changed after introducing a genetic counselor.
In one study, researchers interviewed 17 clinicians and staffers at a primary care clinic participating in the GenCOUNSEL Project, a broader study exploring avenues to provide genetic counseling to patients after genome sequencing. As part of that project, a genetic counselor was embedded into the clinic for one year.
The research team found that primary care clinicians and staff tended to advance through stages of acceptance of genetic counseling, beginning with curiosity and running through full integration of the genetic counselor into the team, according to a 2022 paper published in the European Journal of Human Genetics, on which Austin was the senior author.
Some staff and clinicians participating in the study initially were resistant or disinterested in collaborating with a genetic counselor, but efforts to better understand the genetic counseling field and its credentials, and that genetic counselors are aligned on their clinical care goals, were crucial to bringing these participants to a stage where they were curious and interested about the potential of these services.
Other steps like building trust and experiencing the positive impact of genetic counseling by seeing it in practice helped to shepherd staff and clinicians into deeper collaboration with the genetic counselor and led to better integration of the genetic counselor into the team. That's one reason why embedding genetic counselors within other primary care clinics could be helpful, so that physicians gain a clearer understanding of the services that these practitioners can offer.
However, while that paper outlined a model for an approach to embed genetic counselors into primary care, the research team hadn't evaluated its impact on outcomes.
"That's what we're going to get to do here," Austin said.