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Neglected impacts of patient decision-making associated with genetic testing

Published online by Cambridge University Press:  17 October 2022

Joanne Milverton Open the ORCID record for Joanne Milverton [Opens in a new window]  and
Drew Carter
Joanne Milverton*
Affiliation:
Adelaide Health Technology Assessment (AHTA), School of Public Health, The University of Adelaide, Adelaide, SA 5005, Australia
Drew Carter
Affiliation:
Adelaide Health Technology Assessment (AHTA), School of Public Health, The University of Adelaide, Adelaide, SA 5005, Australia
*
*Author for correspondence: Joanne Milverton, E-mail: [email protected]
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Abstract

We highlight non-health-related impacts associated with genetic testing (GT) and knowing one’s genetic status so that health technology assessment (HTA) analysts and HTA audiences may more appropriately consider the pros and cons of GT. Whereas health-related impacts of GT (e.g., increased healthy behaviors and avoidance of harms of unnecessary treatment) are frequently assessed in HTA, some non-health-related impacts are less often considered and are more difficult to measure. This presents a challenge for accurately assessing whether a genetic test should be funded. In health systems where HTA understandably places emphasis on measurable clinical outcomes, there is a risk of creating a GT culture that is pro-testing without sufficient recognition of the burdens of GT. There is also a risk of not funding a genetic test that provides little clinical benefit but nonetheless may be seen by some as autonomy enhancing. The recent development of expanded HTA frameworks that include ethics analyses helps to address this gap in the evidence and bring awareness to non-health-related impacts of GT. The HTA analyst should be aware of these impacts, choose appropriate frameworks for assessing genetic tests, and use methods for evaluating impacts. A new reporting tool presented here may assist in such evaluations.

Keywords

genetic testingdecision-makingbenefits and harmsautonomy
Type
Perspective
Information
International Journal of Technology Assessment in Health Care , Volume 38 , Issue 1 , 2022 , e75
Copyright
© The Author(s), 2022. Published by Cambridge University Press

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