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

Ian A Scott, John Attia, Ray Moynihan

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)


In determining risk of future disease, Ian Scott and colleagues argue there is little value in genetic testing of asymptomatic people with no family history of disease

Key messages
- 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
Original languageEnglish
Pages (from-to)m14
JournalBMJ: British Medical Journal
Publication statusPublished - 7 Feb 2020


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