Clinical genomics: from a truly personal genome viewpoint.

TitleClinical genomics: from a truly personal genome viewpoint.
Publication TypeJournal Article
Year of Publication2016
AuthorsLupski, JR
JournalHum Genet
Date Published2016 Jun
KeywordsGenetic Diseases, Inborn, Genetic Variation, Genome, Human, Genomics, Humans, Informed Consent, Precision Medicine, Privacy, Sequence Analysis, DNA

The path to Clinical Genomics is punctuated by our understanding of what types of DNA structural and sequence variation contribute to disease, the many technical challenges to detect such variation genome-wide, and the initial struggles to interpret personal genome variation in the context of disease. This review describes one perspective of the development of clinical genomics; whereas the experimental challenges, and hurdles to overcoming them, might be deemed readily apparent, the non-technical issues for clinical implementation may be less obvious. Some of these latter challenges, including: (1) informed consent, (2) privacy, (3) what constitutes potentially pathogenic variation contributing to disease, (4) disease penetrance in populations, and (5) the genetic architecture of disease, and the struggles sometimes faced for solutions, are highlighted using illustrative examples.

Alternate JournalHum Genet
PubMed ID27221143
Grant ListR01 NS058529 / NS / NINDS NIH HHS / United States
R01 GM106373 / GM / NIGMS NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
U54 HD083092 / HD / NICHD NIH HHS / United States

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