Rare Diseases and the Impact of The New Genomic Era of Practice

Last modified by Jose Gauthier on 2020/03/05 16:27

1 in 12 Canadians has a rare disease, and 2/3rd of Canadians with rare diseases are children.  Traditionally many families with rare diseases faced a confusing and complicated diagnostic odyssey.  Recent advances in genomic knowledge and technology are reducing that odyssey for many families. Arriving at a rare disease diagnosis may improve health outcomes by permitting early detection and prevention of associated morbidities, both in the affected patient as well as at risk family members and future generations.  A rare disease diagnosis can also permit access to community supports, government funding, emerging precision therapies, and emerging research. 

At the same time, genomic advances are producing new challenges and complexities for families, clinicians and laboratories.  The spectrum of reportable findings following large scale genomic sequencing, including variants and genes of uncertain clinical significance, as well as incidental and secondary findings, adds a new layer of complication and, potentially, confusion, for families seeking a genetic diagnosis.  Several professional bodies as have published guidelines to support clinicians in navigating this relatively new landscape, including the sensitive issue of when to perform genetic testing that may predict the future development of a medical issue in a child. As well, the federal government recently passed into law the Genetic Non-Discrimination Act.

Genomic advances also raise significant ethical challenges, such as issue relating to provision of informed consent for testing that has the potential to produce unanticipated and uncertain results, as well as the consequence of a genetic diagnosis in the newborn period on parent-child bonding. The high cost of emerging precision therapies also raise practical and ethical questions.  

Learning objectives:

  • Recognize the impact of rare disease on Canadian children and families
  • Recognize the diagnostic odyssey that many families with rare diseases face 
  • Describe genomic testing and examine associated benefits and challenges for clinicians and families
  • Discuss the power of cascade genetic testing in potentially saving lives and improving health and quality of life for the family members of patients with rare diseases
  • Identify some examples of emerging precision therapies for rare diseases
  • Examine professional guidelines and Canadian legislation, especially as relevant to genetic testing in minors
  • Appraise ethical challenges associated with the new era of rapid genomic testing and emerging precision therapies for rare disease.     

Primary audience(s) 

  • Front-line service providers
  • Patient/Family partners/advocates

Secondary audience(s) 

  • Middle managers
  • Senior leaders
  • Policy makers
  • Researchers

Rae headshot.JPGRaechel A. Ferrier is a certified genetic counsellor, practicing at the Alberta Children’s Hospital in Calgary since 2005. She received her Master of Science in Genetic Counselling from McGill University in 2005, and her Master of Arts in Leadership from Royal Roads University in 2018. She provides both front-line care in the areas of cardiovascular, otolaryngology, pulmonary, and immune genetics, as well as operational support to the Southern Alberta Clinical & Medical Genetics Program. Outside of work she enjoys practicing yoga, creating nutritious meals for friends and family, and exploring nature with her partner and their pooch.        

Leslie Colvin-James headshot.jpgLeslie Colvin-James received her Masters in Genetic Counselling from McGill University in 1996 and is American and Australian board certified. Her clinical practice, has covered a broad range of clinical specialties in Canada, the southern US and Australia. Since 2010 she has been based at Alberta Children’s Hospital and has provided front-line care mostly in nephrology genetics and now also inherited retinal disease genetics and by supporting 2 pediatric clinical genetic practices. She is also a wife and mother to two girls and a practicing artist.

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Created by Paula Robeson on 2020/02/25 15:28