Posted by Today, November 4, marks Genetic Counselling Awareness Day. At IWK Health, genetic counsellors work across areas and in different roles. Genetic counselling is a profession that is constantly innovating and expanding, but for many it is still relatively unknown. To help bring awareness to what they do, IWK genetic counsellors Jimena, Corey and Kelly shared insight into their roles.
Jimena Prado, laboratory-based genetic counsellor, Clinical Genomics, Pathology & Lab Medicine
Prado is the first permanent, full-time lab-based genetic counsellor within the laboratory at IWK Health. Her work includes reviewing requests for genetic testing, providing education and support to non-genetics providers, establishing and reviewing testing criteria, testing algorithm and policies for genetic tests, interpreting genetic variants and participating in research through the Genomic Applications Partnership Program (GAPP) from Genome Canada.
“I serve as a liaison between clinicians the laboratory. With genetic testing becoming more available and more complex, I can help support clinicians and laboratory personnel with some of the nuances that exist with genetic testing and their implications for patients,” says Prado. “I am also very passionate about providing equitable and just care to all of our patients. As an immigrant myself, I strive to advocate for patients that might be underrepresented and underserved.”
Through this role, Prado is able to provide a different view of how patients are counselled and consented in the clinic which has implications on how the testing is then performed at the lab.
“My priority is always protecting patient safety and respecting their autonomy and wishes in regards to genetic testing. Additionally, I strive to build policies that reflect best testing strategies for patients that need genetic testing,” Prado adds.
Kelly Turner, genetic counsellor, Maritime Medical Genetics Services
Turner works on the Maritime Medical Genetics Services (MMGS) team along with geneticists, nurses, dietitians and administrative staff to serve patients and families across the Maritimes. Genetic counsellors in this area of IWK Health guide and support patients seeking information about how inherited conditions might affect them or their families and help them make decisions about genetic testing. They also help patients understand test results and provide emotional support.
“I recently moved here from British Columbia and I’ve worked at IWK Health for exactly one month,” shares Turner. “I did a clinical placement in MMGS while I was a student a few years ago, and had been looking for an opportunity to come back. I’m so grateful to work with such a wonderful team and be able to have garlic fingers on a regular basis again!”
Genetic counsellors in MMGS act as guides who help patients and families break down complex medical information, process challenging emotions, and make difficult decisions—all in a personalized context.
“On a national level, we are a small group of health care providers, but we make a huge impact,” concludes Turner.
Corey Filiaggi, genetic counsellor and clinical coordinator for the Maritime Newborn Screening Program, Pathology and Laboratory Medicine
Corey Filiaggi acts as the bridge between the newborn screening laboratory analysis and the clinical follow-up. Newborn screening in the Maritimes analyzes 23 conditions, most of which have a genetic cause. Filiaggi’s role is to ensure that families have information and receive follow-up quickly if required.
“When urgent follow up is needed, I am the one making calls to families and primary care providers to explain the newborn screen results and next steps,” says Filiaggi. “Those calls can be quite tough as parents are rarely expecting them and it can be very stressful for families. My training as a genetic counsellor helps me have these difficult conversations and deliver news in the best way possible, in hopes of making this process easier for families.”
Not all Canadian newborn screening programs have a genetic counsellor. By having this role on the screening program team, communication between the laboratory and clinics is improved, which ultimately results in better patient care.
“While there is information online and in pamphlets about newborn screening, I think that without a genetic counsellor it is harder for families to access information,” says Filiaggi. “I’m also a resource for health care providers looking for information about newborn screening. Genetic counsellors have a lot of training in science communication, and this helps us provide newborn screening information at any level.”
Photos by Gabrielle Gallant.