The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine |
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Authors: | S.C. Bowdin R.Z. Hayeems N. Monfared R.D. Cohn M.S. Meyn |
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Affiliation: | 1. Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada;2. Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada;3. Department of Paediatrics, University of Toronto, Toronto, Canada;4. Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada;5. Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Canada;6. Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada;7. Department of Molecular Genetics, University of Toronto, Toronto, Canada |
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Abstract: | Our increasing knowledge of how genomic variants affect human health and the falling costs of whole‐genome sequencing are driving the development of individualized genomic medicine. This new clinical paradigm uses knowledge of an individual's genomic variants to anticipate, diagnose and manage disease. While individualized genetic medicine offers the promise of transformative change in health care, it forces us to reconsider existing ethical, scientific and clinical paradigms. The potential benefits of pre‐symptomatic identification of at‐risk individuals, improved diagnostics, individualized therapy, accurate prognosis and avoidance of adverse drug reactions coexist with the potential risks of uninterpretable results, psychological harm, outmoded counseling models and increased health care costs. Here we review the challenges, opportunities and limits of integrating genomic analysis into pediatric clinical practice and describe a model for implementing individualized genomic medicine. Our multidisciplinary team of bioinformaticians, health economists, health services and policy researchers, ethicists, geneticists, genetic counselors and clinicians has designed a ‘Genome Clinic’ research project that addresses multiple challenges in pediatric genomic medicine – ranging from development of bioinformatics tools for the clinical assessment of genomic variants and the discovery of disease genes to health policy inquiries, assessment of clinical care models, patient preference and the ethics of consent. |
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Keywords: | individualized genomic medicine next‐generation sequencing pediatrics whole exome whole genome |
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