Including Adults with Intellectual Disability in Precision Medicine Research - Project ENGAGE - Abstract
Precision medicine research (PMR) holds potential to transform health by unearthing genetic and non-genetic
mechanisms of disease and developing tailored prevention and treatment. Participation of adults with
intellectual disability in PMR offers new opportunities to address their substantial health disparities. Yet efforts
to identify their unique needs for inclusion and engagement in PMR have been lacking. Despite
evidence that most adults with intellectual disability demonstrate consent capacity, precision medicine (PM)
researchers may exclude them, fail to accommodate their unique needs in decision-making, or use proxy
consent with little meaningful assent. Consent of adults with intellectual disability to PMR further raises novel
concerns, including best models for consent and how to manage the return of genetic results while also
assuring genomic privacy and promoting inclusion and empowerment—believed to be critical for successful
PMR. Unfortunately, many PM researchers feel ill-equipped to respond; they express desire for
educational and practical resources that are not currently available. These gaps contribute to adults with
intellectual disability being understudied and create barriers to generating knowledge to address their health
needs. They also impede empowerment and are increasingly ethically questionable: adults with intellectual
disability want to be included in PMR. The proposed study employs an academic-community partnership to
close these gaps by: (1) conducting a national, disability-tailored survey with adults with intellectual disability to
identify preferences regarding decision-making role, communication of results, genomic privacy, and needs for
engagement in PMR; (2) Creating a PMR study-adaptable consent toolkit to support PM researchers in
including adults with intellectual disability in PMR and empirically test it via a text complexity study and
cognitive interviews with adults with intellectual disability to ensure understandability to this population; and (3)
Conducting a social validity study with PM researchers to assess the toolkit’s usability, relevance, acceptability,
and comprehensiveness. The web-based consent to PMR toolkit will be freely available. We will disseminate
our findings through workshops, webinars, peer-reviewed publications, and presentations at professional
meetings. PMR has stirred hopes for a new, scientifically-based, and empowering healthcare model that
reaches, and can benefit, those who are most vulnerable and experience substantial health disparities. This
project has the potential to transform PMR by helping PM researchers avoid the pitfalls of bias, uphold
principles of human agency valued by community members, deploy strategies to further grow and diversify
existing PMR datasets. This work will, over time, help foster practices in PMR that promote equitable
healthcare—NIH priorities. This research is the first-time multiple stakeholders including adults with intellectual
disability will collaborate to use empirical ethics inquiry to address consent and other challenges in PMR and
will yield critical theoretical and practical insights to PMR inclusive of adults with intellectual disability.
