Genetic counselling and the path towards precision medicine
Cheryl Shuman is Director of Genetic Counselling at SickKids, and was the first genetic counsellor in Canada.
Back when I was in grade 13 (yes, that long ago), one of the Toronto newspapers ran a very short article on a new profession that had been introduced a few years prior at an American liberal arts university, Sarah Lawrence College. The profession was called genetic counselling and I was intrigued. But where did one go to learn more about a health profession in the days preceding computers and years before such information made its way into the repertoire of the high school guidance counsellor? Then (and still now I might add), one contacted The Hospital for Sick Children (SickKids). Dr. Margaret Thompson, an internationally respected geneticist, agreed to meet with me. Yes, she knew a little about this new program and thought it had merit. I kept this at the back of my mind throughout my undergrad years, and with precious little additional information I applied and was accepted into the Master of Science Human Genetics and Genetic Counselling program at Sarah Lawrence College as the first Canadian to pursue this educational path.
Looking back, the practice of genetic counselling in the ‘early years’ was more straightforward than it is now. We worked together with geneticist colleagues, both physicians and laboratory scientists, trying to define genetic disorders so that we could empower patients and their families with accurate information. We tailored information gleaned from publications to each patient’s/family’s needs as best we could and provided psychosocial counselling to support their adaptation to the health concern in their family. The generosity of our patients and their families in sharing their experiences and their drive to learn more, to understand more, to find meaning, and to gain some measure of control in the face of the unexpected, compelled us to advance genetic knowledge. Genetic science began to move at seemingly warp speed with new genes being identified (including notable discoveries at SickKids) and the development of new tests that allowed for a better understanding of the underlying genetic causes of health problems. The excitement and challenge in this new field were palpable.
We are truly on the cusp of a new era for how health care will be provided, what many refer to as precision medicine. We are gaining a better understanding of contributors to both rare and common diseases; these include new gene alterations, how genes interact with one another, how environmental and lifestyle factors may influence how and when a health problem might present, and why it might present differently in different individuals. Rather than testing one gene at a time, new and now affordable testing approaches allow us to screen all of our genetic information (our genome) which means testing thousands of genes at a single point in time. These new tests are providing answers about the cause of the health problems in many of our patients, when such answers have eluded us for decades. These genomic tests can also provide information about other health issues that might not yet be apparent in our patients, as well as which medications might be the most effective and have the fewest side effects. And these tests can alert us to possible health concerns in immediate family members, including the siblings of our patients and their parents. As a genetic counsellor, I continue to refine my psychosocial genetic counselling skills to support our patients and their families in adapting to their current (and potentially future) health challenges. I strive to find better ways to translate highly complex information, to help patients and their families make the choices that are consistent with their personal needs and beliefs, and to help them move forward in the face of uncertainty. Genetic counsellors are integral to the effective roll out of precision medicine and in improving the health and well-being of children and their families. Little did I know all those years ago just how stimulating, challenging and gratifying the profession of genetic counselling would be!