Perspectives of Young Adults with an Autism Spectrum Disorder on the Use of Electronic Health Records in Research: The Balance between Privacy and Genetic Discovery

Background: The advent of electronic health records (EHRs) has enabled researchers to mine vast amounts of clinical data. Advances in genomic science have led to growing numbers of research studies recruiting adults with known or suspected genetic conditions. These individuals may have the most to gain from participation in research, but also face increased risks; therefore, it is important to understand their preferences for the use of their EHRs in research.

Objectives: To understand perspectives regarding research use of EHR data among young adults with three different genetic profiles: autism spectrum disorder (ASD), a suspected genetic condition; fragile X syndrome (FXS), a known genetic condition; and no known genetic condition.

Methods: A total of seven focus groups were conducted with young adults aged 18-40 with ASD (n=9 and n=6), FXS (n=5, n=4, and n=4), and no known genetic conditions (n=8 and n=8). Most individuals with ASD were male (87%). All individuals with FXS were female. Males and females were equally represented in the group with no known conditions. Individuals with ASD and FXS were screened for level of functioning to ensure their ability to participate. Focus groups were recorded, transcribed, coded and analyzed.

Results: All participants were willing to share their EHR with researchers under certain conditions. Fear of discrimination appeared to influence the perspectives of one of the groups with ASD, leading to higher levels of distrust of researchers. Participants in the other ASD group, however, expressed few reservations about sharing their EMR. Individuals with FXS were very open to sharing, particularly if the research focused on FXS. Individuals with no known disorder were the most conservative in their preferences, with females and minorities expressing the most concerns. All groups desired a high level of transparency regarding the purpose of the research, the information shared, the credentials of researchers, and data security measures. All groups also shared a profound distrust of insurance companies and concerns about the motives of for-profit entities. Reservations about pharmaceutical research were held by most, but were tempered by the potential for new medications especially among those with ASD and FXS. A primary concern of all groups was the risk of personal information being misused for non-research purposes (e.g., identity theft, discrimination). Individuals with ASD and FXS were more willing to share EHRs if they had a personal connection to the researcher and to share sensitive information, such as mental health records, if the research was related to their condition. Individuals without known conditions were generally unwilling to share sensitive information unless de-identified. All groups cited altruistic benefits from sharing EHRs, but the ASD and FXS groups focused more on benefits to others with ASD and FXS, in addition to direct benefits to themselves and/or their siblings.

Conclusions: Overall, participants with ASD and FXS believed the benefits of sharing EHRs for research outweighed risks if they received adequate, understandable information about study details. Receiving sufficient information was critical for all groups to make an informed decision about participation.