Details:

Alternative Title:
Genet Med
Personal Author:
Khoury, Muin J. ; Janssens, A. Cecile J.W. ; Ransohoff, David F.
Khoury, Muin J. ; Janssens, A. Cecile J.W. ; Ransohoff, David F. Less -
Description:
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.
Subjects:
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Article Evidence-based Medicine Female Genetics Genetic Testing Genomics Humans Male Mass Screening Multifactorial Inheritance Neoplasms Polygenic Model Precision Medicine Public Health Risk Assessment Screening
Source:
Genet Med. 15(6):437-443.
Pubmed ID:
23412608
Pubmed Central ID:
PMC4692802
Document Type:
Journal Article
Funding:
CC999999/Intramural CDC HHS/United States
Collection(s):
CDC Public Access
Main Document Checksum:
[+]
urn:sha256:a9f5d81959f8d38d7204cf9f1cb272d9708991cc6947ee6865e0614c5d72574b
Download URL:
https://stacks.cdc.gov/view/cdc/37113/cdc_37113_DS1.pdf
File Type:

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