How can polygenic inheritance be used in population screening for common diseases?

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Abstract

Advances in genomics have near-term impact on diagnosis and management of monogenic disorders. For common complex diseases, the use of genomic information from multiple loci (polygenic model) is generally not useful for diagnosis and individual prediction. In principle, the polygenic model could be used along with other risk factors in stratified population screening to target interventions. For example, compared to age-based criterion for breast, colorectal, and prostate cancer screening, adding polygenic risk and family history holds promise for more efficient screening with earlier start and/or increased frequency of screening for segments of the population at higher absolute risk than an established screening threshold; and later start and/or decreased frequency of screening for segments of the population at lower risks. This approach, while promising, faces formidable challenges for building its evidence base and for its implementation in practice. Currently, it is unclear whether or not polygenic risk can contribute enough discrimination to make stratified screening worthwhile. Empirical data are lacking on population-based age-specific absolute risks combining genetic and non-genetic factors, on impact of polygenic risk genes on disease natural history, as well as information on comparative balance of benefits and harms of stratified interventions. Implementation challenges include difficulties in integration of this information in the current health-care system in the United States, the setting of appropriate risk thresholds, and ethical, legal, and social issues. In an era of direct-to-consumer availability of personal genomic information, the public health and health-care systems need to prepare for an evidence-based integration of this information into population screening.

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Genet Med. Author manuscript; available in PMC 2015 Dec 28.

Published in final edited form as:

Genet Med. 2013 Jun; 15(6): 437–443.

Published online 2013 Feb 14. doi:  10.1038/gim.2012.182

PMCID: PMC4692802

NIHMSID: NIHMS745332

How can polygenic inheritance be used in population screening for common diseases?

Muin J. Khoury, MD, PhD,^1,2 A. Cecile J.W. Janssens, PhD,³ and David F. Ransohoff, MD^4,5

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