Assessing the Psychological Impact of Genetic Susceptibility Testing

Abstract

The expanded use of genetic testing raises key ethical and policy questions about possible benefits and harms for those receiving disease‐risk information. As predictive testing for Huntington’s was initiated in a clinical setting, survey research posing hypothetical test scenarios suggested that the vast majority of at‐risk relatives wanted to know whether they carried a disease‐causing mutation. However, only a small minority ultimately availed themselves of this opportunity. Many at‐risk individuals concluded that a positive test result would be too psychologically overwhelming. A substantial literature suggests that individuals are often more resilient than anticipated in coping with many different health‐related stresses. Much of my own work in the field has been through the Risk Evaluation & Education for Alzheimer’s Disease study (REVEAL), a series of randomized clinical trials assessing the impact of genetic susceptibility testing on asymptomatic individuals at risk for Alzheimer’s disease. Our experience in developing and implementing four successive, multisite trials provides some potentially useful lessons for the field. More people will be asking for their personal genetic information. Better understanding will help us decide when access is appropriate and how best to disclose results in a manner that supports adjustment to test findings and promotes use of genetic information to improve human health.

What Is the Psychosocial Impact of Providing Genetic and Genomic Health Information to Individuals? An Overview of Systematic Reviews

“…Finally, the reviews identified a need for better strategies to measure impacts of genetic and genomic testing as distinct from patient responses to symptoms of a resulting health condition. (See Scott Roberts’s contribution in this special report, which outlines similar suggestions for future research …”

Laypeople Are Strategic Essentialists, Not Genetic Essentialists

“…Several essays in this special report testify to the substantial degree to which, to date, this model has not accurately predicted psychosocial impacts of findings from genetics research . I will be arguing that the failure of the model can be traced to its inability to recognize the complexity of laypeople’s attitudes; its incorrect theory of how beliefs, attitudes, and discourse function; and its blindness to how academics’ own interests can override the available evidence.…”

Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues

“…When rigorous trials to assess psychosocial harms have been conducted, many of the expected harms have not materialized. There is a near absence of negative psychological or emotional impact of genetic testing in the adult setting [46][47][48][49].…”