Adolescents' experiences and perspectives of genetic testing and its personal utility
Ethical Legal Social Issues (ELSI) Public Health and Policy
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Primary Categories:
- Health services and Implementation
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Secondary Categories:
- Health services and Implementation
Introduction:
As genetic testing becomes more widely used in adolescent medicine, the number of teenagers with identified genetic diagnoses continues to increase. These technologies may be particularly useful in children and adolescents since early diagnosis, risk identification and tailored intervention can result in lifelong benefits. The utility of a genetic test broadly refers to its value for patients, families, clinicians, healthcare systems and societies. Personal utility describes the value of a genetic test from the perspective of the patient. Increasingly, decision-makers are seeking evidence of personal utility to inform funding decisions, and clinicians desire tools to guide the provision of patient-centred care. However, adolescents’ experiences of receiving genetic testing and their perceptions of the usefulness of the results have not been extensively studied. This study aimed to understand adolescents’ unique experiences with, and perspectives of genetic testing and its personal utility. This will help to inform the development of a validated, post-test outcome measure that captures the impact of genetic testing from adolescents’ perspectives.
Methods:
Guided by a literature review on the experiences of adolescents with a genetic condition and previous work developing a parent/caregiver personal utility measure, we developed a semi-structured interview guide to explore adolescents’ perspectives on personal utility. We invited 14-19 year olds who were counselled about their clinical genetic test result within the past year to participate in a qualitative interview. Interviews were conducted by a trained genetic counselor. Analysis of interviews was guided by an interpretive description approach and deductive coding for five dimensions of personal utility: i) affective, ii) behavioral, iii) cognitive, iv) medical management, and v) social.
Results:
Fourteen adolescents including eight males (57%), five females (36%), and one non-binary individual (7%), were interviewed between December 2022 and October 2024. The mean age of participants was 16.6 years (range: 15-19 years). They resided in Ontario, Québec and British Columbia, Canada. For these participants, genetic testing had been conducted for a range of indications, including cardiac or metabolic disease, sexual development disorders, or familial variant testing. Seven adolescents (50%) received a positive test result and seven (50%) received a negative or uninformative test result. Of those who received a negative primary result, two (14%) received a pharmacogenomic result.
Adolescents reported that genetic testing can have significant personal utility and emotional implications. All five dimensions of personal utility emerged during the interviews. Genetic test results provided adolescents and their family members with valuable information about their health, or the cause of their condition. Having these results also assisted individuals in identifying potential risks for a condition or to their health, enabling them to take proactive steps to manage those risks through surveillance (e.g., echocardiogram or cancer screening) or promoting preventative measures to avoid an adverse medical event (e.g., heart attack). Adolescents believed their genetic test results would also allow them to make informed decisions about their education or career choices, personal relationships, financial planning, and could impact family planning in the future. Participants reported that receiving a test result, whether positive or negative, was largely empowering and reduced feelings of confusion and uncertainty.
Conclusion:
We observed that personal utility of genetic testing manifests for adolescents across a range of domains. This study highlights the importance of considering the personal utility of genetic testing from the perspectives of adolescents and the need for validated population-specific patient-reported outcome measures.
As genetic testing becomes more widely used in adolescent medicine, the number of teenagers with identified genetic diagnoses continues to increase. These technologies may be particularly useful in children and adolescents since early diagnosis, risk identification and tailored intervention can result in lifelong benefits. The utility of a genetic test broadly refers to its value for patients, families, clinicians, healthcare systems and societies. Personal utility describes the value of a genetic test from the perspective of the patient. Increasingly, decision-makers are seeking evidence of personal utility to inform funding decisions, and clinicians desire tools to guide the provision of patient-centred care. However, adolescents’ experiences of receiving genetic testing and their perceptions of the usefulness of the results have not been extensively studied. This study aimed to understand adolescents’ unique experiences with, and perspectives of genetic testing and its personal utility. This will help to inform the development of a validated, post-test outcome measure that captures the impact of genetic testing from adolescents’ perspectives.
Methods:
Guided by a literature review on the experiences of adolescents with a genetic condition and previous work developing a parent/caregiver personal utility measure, we developed a semi-structured interview guide to explore adolescents’ perspectives on personal utility. We invited 14-19 year olds who were counselled about their clinical genetic test result within the past year to participate in a qualitative interview. Interviews were conducted by a trained genetic counselor. Analysis of interviews was guided by an interpretive description approach and deductive coding for five dimensions of personal utility: i) affective, ii) behavioral, iii) cognitive, iv) medical management, and v) social.
Results:
Fourteen adolescents including eight males (57%), five females (36%), and one non-binary individual (7%), were interviewed between December 2022 and October 2024. The mean age of participants was 16.6 years (range: 15-19 years). They resided in Ontario, Québec and British Columbia, Canada. For these participants, genetic testing had been conducted for a range of indications, including cardiac or metabolic disease, sexual development disorders, or familial variant testing. Seven adolescents (50%) received a positive test result and seven (50%) received a negative or uninformative test result. Of those who received a negative primary result, two (14%) received a pharmacogenomic result.
Adolescents reported that genetic testing can have significant personal utility and emotional implications. All five dimensions of personal utility emerged during the interviews. Genetic test results provided adolescents and their family members with valuable information about their health, or the cause of their condition. Having these results also assisted individuals in identifying potential risks for a condition or to their health, enabling them to take proactive steps to manage those risks through surveillance (e.g., echocardiogram or cancer screening) or promoting preventative measures to avoid an adverse medical event (e.g., heart attack). Adolescents believed their genetic test results would also allow them to make informed decisions about their education or career choices, personal relationships, financial planning, and could impact family planning in the future. Participants reported that receiving a test result, whether positive or negative, was largely empowering and reduced feelings of confusion and uncertainty.
Conclusion:
We observed that personal utility of genetic testing manifests for adolescents across a range of domains. This study highlights the importance of considering the personal utility of genetic testing from the perspectives of adolescents and the need for validated population-specific patient-reported outcome measures.