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Evolving health care through personal genomics

Nature Reviews Genetics volume 18, pages 259–267 (2017)Cite this article

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Abstract

With the rapid evolution of next-generation DNA sequencing technologies, the cost of sequencing a human genome has plummeted, and genomics has started to pervade health care across all stages of life — from preconception to adult medicine. Challenges to fully embracing genomics in a clinical setting remain, but some approaches are starting to overcome these barriers, such as community-driven data sharing to improve the accuracy and efficiency of applying genomics to patient care.

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Figure 1: The use of genomics throughout an individual's lifespan.
Figure 2: Detection rates across a selection of molecular diagnostic tests.
Figure 3: Centralized and federated databases.
Figure 4: Penetrance of genetic disorders.

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Acknowledgements

H.L.R. is supported by grants from the US Department of Health and Human Services, the US National Institutes of Health (NIH), and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) under award numbers U41HG006834, U01HG006500, U19HD077671, U01HG008676 and UM1HG008900. The author would like to thank S. Hemphill for identifying literature to support Figure 4.

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Authors and Affiliations

  1. Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA; at the Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA; and at The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.,

    Heidi L. Rehm

  2. at the Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA,

    Heidi L. Rehm

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Correspondence to Heidi L. Rehm.

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Competing interests

H.L.R. is employed by the Brigham and Women's Hospital, Boston, Massachusetts, USA, and the Broad Institute, Cambridge, Massachusetts, directing laboratories that offer fee-based clinical genomic services.

Related links

PowerPoint slides

Glossary

Chromosome microarray

(CMA). A cytogenetic testing platform that uses DNA probes to detect copy number variants of typically 100,000 bp or larger.

Copy number variants

(CNVs). The loss or gain of chromosomal material often resulting from a deletion or duplication event, respectively.

Genotype-first approaches

The use of genetic and genomic testing to enable earlier identification of disease diagnoses compared to first performing detailed clinical tests and evaluations.

Non-invasive prenatal testing

A prenatal screening test to detect chromosome abnormalities in cell-free fetal DNA in maternal blood.

Penetrance

The likelihood that a disease will be expressed in an individual who harbours an at-risk genotype.

Precision Medicine Initiative

A US National Institutes of Health funded programme launched in 2016 to advance biomedical research, including the aim to enrol one million individuals who consent to contribute detailed medical and genetic data.

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Rehm, H. Evolving health care through personal genomics. Nat Rev Genet 18, 259–267 (2017). https://doi.org/10.1038/nrg.2016.162

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