Centre will transform lives through rare disease diagnosis
OTTAWA, February 28, 2019 – On Rare Disease Day, CHEO’s new Centre for Genomic Innovation ran its first comprehensive clinical genomic test on site, marking a significant change in the diagnosis of rare diseases in Canada. With funding from the community through the CHEO Foundation, the Centre for Genomic Innovation will deliver genomic expertise as a front-line option of care for rare disease. World-renowned clinical geneticist at CHEO and senior scientist at the CHEO Research Institute, Dr. Kym Boycott, will be the new centre’s executive director.
“Families of children with rare diseases often spend years seeking a diagnosis for many reasons, including delays in testing and result interpretation, and going from specialist to specialist,” said Dr. Boycott, who is also a professor in the department of pediatrics at the University of Ottawa. “At CHEO and the CHEO Research Institute, and through our pan-Canadian research partnerships, we’re now able to use genomics to transform the diagnosis of rare diseases.
“It is very difficult for families living with rare disease to access these tests and it takes far too long to get the answers they need. This new investment in genomic innovation allows us to bring these genomic tests to the front door of care – getting families the diagnoses they need when they need it. This is so vital, because accurate diagnosis informs care, improves family wellbeing, and gives families access to resources and support.”
Joining the celebrations for the new centre was the Lincoln family, who endured a diagnostic odyssey seeking answers for their son, Eli. First referred to the CHEO Genetics clinic at the age of three, Eli and his family finally received an accurate diagnosis – brain-lung-thyroid syndrome – when he was 10 years old. Getting these answers for Eli also provided an accurate diagnosis for his father Richard.
“A diagnosis opened doors for us,” said Eli’s mother Judy. “It does not mean Eli’s life is easier, but he has a new confidence, knowing there is a name for the symptoms he experiences. Eli’s diagnosis also helped my husband Richard, who had been incorrectly diagnosed with mild cerebral palsy and asthma. As it turned out, he has the same rare disease as Eli. But it took our family a long time to get to this point. I’m grateful that the community is supporting CHEO’s genetics work and investing in making genetic discoveries happen earlier for families.”
CHEO and the CHEO Research Institute already lead cutting-edge research and care for families with rare disease. They are home to the Care4Rare Canada Consortium, a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists and researchers who use state-of-the-art genomic technology to discover the cause of rare diseases for patients across Canada and around the world, while working with health systems to determine the best way to implement these tests in the clinic.
To understand the biological mechanisms of rare disease, CHEO also co-leads (along with the University of British Columbia and Université de Montréal) the Rare Diseases: Models and Mechanisms Network. This first-of-its-kind network connects clinicians discovering new genes with scientists able to study them in model organisms and provides seed funding for research. We are also the custodians of RareConnect, a safe, easy–to-use social networking site for rare disease, where patients, families and patient organizations can develop online communities and conversations across continents and languages.
“An accurate diagnosis is the cornerstone of good clinical care,” said Alex Munter, President and CEO of CHEO. “For rare diseases that’s often elusive. We are talking about critically ill children where nobody knows what’s wrong or how to best care for them. As dedicated health professionals, we wonder if more could be done. Patients and families are desperate for answers frustrated by the endless testing. With this new centre, we are making sure that we can do more for these families. It’s support from the community through the CHEO Foundation that has allowed us to establish this centre and we are very grateful for this investment to improve care for children and youth with some of the most complex illnesses.”
“The work we’ll do through the Centre for Genomic Innovation will bring the promise of genomic discoveries to patients with rare disease here at CHEO,” said Dr. Martin Osmond, CEO and Scientific Director of the CHEO Research Institute. “In research, we often talk about how we take discoveries in the lab, or at the ‘bench’, to the patient, or the ‘bedside’. This often takes years, sometimes decades. With the centre, we can quickly move research discoveries into the clinic, aiming to shorten the time between bench and bedside. It catalyzes CHEO’s international leadership in precisions medicine for rare disease and will improve the lives of families locally, nationally and internationally.”
Through the Centre for Genomic Innovation, CHEO and CHEO RI will implement some of the recommendations from the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. Dr. Boycott was a member of this Commission, which was established to identify the numerous barriers to diagnosis of rare disease and offer concrete recommendations that can be adapted to national and local needs.
“First and foremost, the recommendations focus on patient and family empowerment and getting health-care providers to think differently about rare disease – ensuring all families have the tools they need to ask the right questions and expedite diagnosis,” said Dr. Boycott. “Through the Centre for Genomic Innovation, we will improve access to diagnostic testing for patients who would benefit most and reduce wait times for genetics.”
ABOUT THE CHEO RESEARCH INSTITUTE
The CHEO Research Institute coordinates the research activities of CHEO and is affiliated with the University of Ottawa. Its three programs of research are molecular biomedicine, health information technology, and evidence to practice research. Key themes include cancer, diabetes, obesity, mental health, emergency medicine, musculoskeletal health, electronic health information and privacy, and genetics of rare disease. The CHEO Research Institute makes discoveries today for healthier kids tomorrow. The CHEO Research Institute’s work in genetics has been supported by Genome Canada, CIHR and the Canada Foundation for Innovation. For more information, visit www.cheori.org.
Dedicated to the best life for every child and youth, CHEO is a global leader in pediatric health care and research. Based in Ottawa, CHEO includes a hospital, children’s treatment centre, school and research institute, with satellite services located throughout Eastern Ontario. CHEO provides excellence in complex pediatric care, research and education. We are committed to partnering with families and the community to provide exceptional care — where, when and how it’s needed. CHEO is a founding member of Kids Health Alliance, a network of partners working to create a high quality, standardized and coordinated approach to pediatric health care that is centred around children, youth and their families. Every year, CHEO helps more than 500,000 children and youth from Eastern Ontario, western Quebec, Nunavut and Northern Ontario.
Aynsley Morris, CHEO Research Institute
Paddy Moore, CHEO
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