The role of a genetic counsellor in a rare disease diagnosis

February 28th is recognized as Rare Disease Day.

A rare disease is classified as a disease that affects fewer than 1 in 2000 people. Rare Disease Day raises awareness for the 300 million people living with rare disease around the world and their families and caregivers. Here at CHRIM, we have multiple investigators who dedicate their research to learning more about these diseases, and how to improve the lives of children and families living with them and searching for answers.

Jessica Hartley focuses her research on increasing access and improving the genetics patient care experience. As genetic testing is becoming more complex and comprehensive, more children with rare diseases are undergoing genetic testing with the hope of receiving a confirmatory genetic diagnosis. Families undergoing this testing need genetics professionals such as genetic counsellors and clinical geneticists to help understand and adapt to the medical, familial and psychosocial implications, who are in short supply.

Ms. Hartley is a trained as a genetic counsellor, which combines a knowledge of clinical genetics and counselling skills to educate and support people making complex health decisions. 

“I’ve experienced first-hand in the clinic the difficulties families experienced in ‘waiting for a diagnosis.’ This sparked my interest to contribute to research to support these families.

Jessica Hartley, MS CGC,
CHRIM Investigator
Program Director MSc In Genetic Counselling
Instructor II University of Manitoba Professor

Through her research, Ms. Hartley, along with collaborators, has made numerous discoveries that better the lives and outcomes for children and families with suspected rare diseases. One of their most exciting discoveries was finding and describing a genetic condition called PRUNE1 neurodevelopmental disorder in the Manitoba population. The team worked with a number of Manitoba families who went for years without answers, but always suspecting their child had a rare disease. Since this genetic condition has been described, targeted genetic testing is now available, shortening the wait for answers for families.

You can read more about other rare disease research happening at CHRIM by visiting this blog post about CHRIM Investigator Dr. Michael Charette and the work his lab is doing.