World’s first comprehensive paediatric Genome Clinic at SickKids

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To start, clinic’s focus is on eye, kidney, heart, autoimmunity

A research platform that will bring the best of individualized genetic medicine to the bedside of children with hard-to-treat diseases and rare conditions is underway at The Hospital for Sick Children (SickKids).

SickKids is the first paediatric hospital in the world to offer whole genome sequencing in addition to gene panels for patients who may stand to benefit, says Dr. Ronald Cohn. Dr. Cohn is a Co-director of the Centre for Genetic Medicine at SickKids, which initiated and sponsors the clinic.

As at many hospitals around the world, physicians at SickKids already use clinically available genetic testing to assist in the diagnosis and management of childhood-onset disorders. “In some cases, the genetic result can lead to more effective treatments and better patient outcomes. However, for many patients, the genetic cause of their condition remains unknown. Not all children fit the norm of diseases such as leukemia, while other complex diseases are so rare that there is no actual norm,” Dr. Cohn says. “The whole genome sequence will allow us – in a very few cases – to pinpoint treatment options for specific children. It will also vastly expand our research platform for these rare conditions, contributing to genome research around the world.”

Psychosocial implications
Clinic Co-lead Dr. Sarah Bowdin says, “Just as important as advances in how to apply whole genome sequencing to  pre-existing clinical issues, we are learning how to organize and share the data about the individual’s lifetime risk for genetically based conditions with sensitivity and respect for the patient and family’s preferences.

Unfolding this picture of lifetime medical risks in a young child is completely new in history and in medical ethics, and opens up new challenges that need to be addressed.” She is a clinical geneticist at SickKids and Assistant Professor of Paediatrics at University of Toronto.

Because of this complexity, the consent process for the Genome Clinic takes about 90 minutes for parents to complete. The benefits and risks of whole genome sequencing are fully explained to the family, and questions are encouraged. Trainee geneticists within SickKids are asked to go through the consent process as part of their own learning. Dr. Cohn had his own whole genome sequence performed, “and it was one of the most profound experiences of my life,” he says. “I had to consider the potential implications not only for me, but most importantly for my children and my family.  It has triggered fascinating conversations with my children and my wife – an experience that will undoubtedly be beneficial for my future interactions with patients and their families.”

Five-year project
The Genome Clinic is projected as a five-year research project. The patients who may benefit the most in the clinic’s first two years include those with kidney, eye, heart and autoimmune diseases. A major benefit is in bringing together clinicians from different areas to review a child together, says Dr. Cohn. “Sometimes we find that one specific genetic change is associated with two apparently separate conditions and diagnoses. The Genome Clinic can be a catalyst for further diagnostic investigations as well as cross-disciplinary treatment at the bedside and will serve as a future model for clinical care.”

Dr. Cohn is a leading researcher of muscle-wasting conditions and is also Chief, Division of Clinical and Metabolic Genetics at SickKids as well as Associate Professor of Paediatrics at University of Toronto. He came to SickKids in 2012 from Johns Hopkins University and Children’s Center specifically for the opportunity to move genetic medicine forward in all of paediatric medicine.

The potential to analyze a person’s whole genome has been made possible by the reduced cost of whole genome sequencing, which is coming down from approximately $10,000 to about one thousand dollars. “It’s like the revolution of personal computers that we saw 20 years ago – when the technology becomes affordable, that changes everything,” adds Dr. Stephen Scherer, Co-Director with Dr. Cohn of  the Centre for Genetic Medicine, and Professor of Medicine  at University of Toronto.

About Peter Gilgan Centre for Research and Learning
The Peter Gilgan Centre for Research and Learning will bring together researchers from different scientific disciplines and a variety of clinical perspectives, to accelerate discoveries, new knowledge and their application to child health — a different concept from traditional research building designs. The facility will physically connect SickKids science, discovery and learning activities to its clinical operations. Designed by award-winning architects Diamond + Schmitt Inc. and HDR Inc. with a goal to achieve LEED® Gold Certification for sustainable design, the Gilgan Centre will create an architectural landmark as the eastern gateway to Toronto’s Discovery District. The Peter Gilgan Centre for Research and Learning is funded by a grant from the Canada Foundation for Innovation, the Government of Ontario, philanthropist Peter Gilgan and community support for the ongoing fundraising campaign. For more information, please visit www.sickkidsfoundation.com/bepartofit.