ELSIcon2022 • Paper • May 27, 2022
Frederic Coulombe, Anne-Marie Laberge
Background: Consent for genetic tests is a well-established practice. Nevertheless, there is no consensus on what specific elements needs to be discussed or considered in the consent process for genetic tests. Objective: To identify elements reported to influence the consent process for genetic tests from the perspective of patients. Methods: Using search terms related to decision-making, informed consent and genetic tests, a systematic review was done using Medline, Embase, Cochrane Library, Cinhal and PsycINFO. Inclusion criteria were papers written in English or French, published between 1990-2020, discussing the offer of genetic tests and the consent/decision-making process from the perspective of patients. Papers were analyzed using NVivo and coded iteratively by two independent coders. Results: Out of 1836 papers (excluding duplicates), 1747 were excluded based on title or abstract and 89 were analyzed. Coding identified three major themes: 1) Factors involved in the decision-making process (social and experiential factors, test perception, beliefs, knowledge, trust in the health care system, and timing); 2) Motivations in favor of genetic testing (desire to know one’s diagnosis/level of risk, personal perception of risk, professional recommendation to test, and altruism); 3) Deterrents against genetic testing (insufficient nature and quality of the information, barriers to access, personal and familial attitudes, and privacy issues). Conclusion: Patients are influenced by a priori motivations and deterrents when deciding to pursue genetic testing, in addition to usual factors involved in the decision-making process. There is a need for ways to explore these explicitly during the counselling process to ensure informed consent.