Promises and perils of using genetic tests to predict risk of disease

Title: Promises and perils of using genetic tests to predict risk of disease
Creator: Scott, Ian A.; Attia, John; Moynihan, Ray
Relation: BMJ Vol. 368, no. m14
Publisher Link: http://dx.doi.org/10.1136/bmj.m14
Publisher: B M J Group
Resource Type: journal article
Date: 2020
Description: Low cost genetic testing is increasingly being used by patients and the public to predict risk of developing disease in asymptomatic people in the hope that more precise risk stratification might facilitate targeted interventions for reducing risk. The proliferation of genetic variants might cause clinicians and citizens to misread their clinical relevance, potentially leading to overestimation of risk, overdiagnosis, and overtreatment. In appraising the value of genetic testing for clinical decision making, consideration must be given to validity, predictive accuracy, clinical utility, potential harms, cost effectiveness, and feasibility of use in routine care. Moving from traditional genetic testing for rare monogenic disorders within families to wider polygenic testing for common diseases in heterogeneous populations requires robust evidence of benefits and harms of this paradigm shift.
Subject: asymptomatic diseases; genetic testing; genetic predisposition to disease; cost-benefit analysis
Identifier: http://hdl.handle.net/1959.13/1447498
Identifier: uon:43165
Identifier: ISSN:1756-1833
Language: eng
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