Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 21, 2020
Volume 21, Issue -, Pages 351-372Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-083118-015345
Keywords
rare genetic diseases; diagnostic odyssey; rare disease diagnosis; data sharing; genomics; omic approaches
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Funding
- European FP7 contract SUPPORT-IRDIRC [305207]
- Genome Canada
- Canadian Institutes of Health Research (CIHR) [OGI-0147]
- Frederick Banting and Charles Best Canada Graduate Scholarship Doctoral Award from CIHR
- CIHR Foundation Grant [FDN-154279]
- Tier 1 Canada Research Chair in Rare Disease Precision Health
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG000215] Funding Source: NIH RePORTER
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Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after the initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale.
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