A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Kym M Boycott; Taila Hartley; Leslie G Biesecker; Richard A Gibbs; A Micheil Innes; Olaf Riess; John Belmont; Sally L Dunwoodie; Nebojsa Jojic; Timo Lassmann; Deborah Mackay; I Karen Temple; Axel Visel; Gareth Baynam

doi:10.1016/j.cell.2019.02.040

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.

Authors

Affiliations

¹ Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.
² Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
³ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
⁴ Human Genome Sequencing Center, Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.
⁵ Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
⁶ Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁷ Illumina, Madison, WI, USA; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
⁸ Victor Chang Cardiac Research Institute, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.
⁹ Microsoft Research, Seattle, Washington, USA.
¹⁰ Telethon Kids Institute, University of Western Australia, Nedlands, WA, Australia.
¹¹ Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.
¹² Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, CA, USA; DOE Joint Genome Institute, CA, USA; The University of California at Merced, CA, USA.
¹³ Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

PMID: 30901545
DOI: 10.1016/j.cell.2019.02.040

Abstract

The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.

Publication types

Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

Exome
Exome Sequencing / methods
Exome Sequencing / trends*
Genetic Testing
Genome, Human / genetics
High-Throughput Nucleotide Sequencing / trends
Humans
Rare Diseases / diagnosis*
Rare Diseases / genetics
Sequence Analysis, DNA / methods
Translational Research, Biomedical / methods*

Abstract

Publication types

MeSH terms

Grants and funding