Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals

Abstract

Deaf/hard of hearing (HoH) individuals can benefit from precision medicine research (PMR) but are underrepresented in mainstream health research and may experience barriers to participation. Understanding their views and concerns about PMR can inform processes to foster inclusion in future studies and reduce health disparities. Methods: We administered an online disability-accessible survey to explore perceptions of PMR among, inter alia, deaf/HoH individuals. Questions included willingness to participate, interest in results, and barriers and facilitators to participation. Analyses describe results for participants who self-identified their primary condition as being deaf/HoH and compared results for key demographic characteristics. Results: A total of 267 deaf/HoH participants completed the survey. Interest in PMR was high, although many reported inaccessible facilities and information about medical research; 51% reported that communication with health professionals is a barrier. Concerns about harm, lack of access to benefits, misinformed allocation decisions, and limited disability-relevant knowledge among researchers and health care providers were significant. Differences across racial, ethnic, and sex groups were observed and are discussed. Conclusion: Strategies to remove barriers to participation of deaf/HoH individuals in PMR are suggested. Distrust is a major challenge for cohort diversity, and research is needed to identify measures to increase the trustworthiness of PMR endeavors.

Addressing underrepresentation in genomics research through community engagement

“…Members of the Deaf community, for example, highlight that being deaf represents one dimension of human diversity that need not be understood as a disease or disability, and that Deaf culture and language provide meaning and identity for its members in ways analogous to the culture provided within other minoritized groups. 35 Research publications that, for example, frame deafness as a loss of quality of life are insensitive and perpetuate harms to the Deaf community.…”

The ethical challenges of diversifying genomic data: A qualitative evidence synthesis

“…Both reviews and workshop discussions emphasised the importance of adapting research practices to the needs of different groups and designing accessible communication strategies that ensure critical information is conveyed clearly and effectively (Kobayashi et al, 2013 ; Campbell et al, 2017 ; Kraft and Doerr, 2018 ; Sabatello et al, 2019 ; Hendricks-Sturrup and Johnson-Glover, 2021 ; Uebergang et al, 2021 ; Garofalo et al, 2022 ). Such communication strategies were thought to improve the trustworthiness of research (Blanchard et al, 2020 ).…”

“…Such communication strategies were thought to improve the trustworthiness of research (Blanchard et al, 2020 ). However, it was also reported that critical information on genomic health research is sometimes communicated in ways that can cause confusion and misunderstandings for participants, posing barriers for participation in genomic research (Garofalo et al, 2022 ). Inaccessible facilities, information, transportation and other systematic and institutional factors were reported as barriers to access and participation for people with disabilities (Sabatello et al, 2019 ; Garofalo et al, 2022 ).…”

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

“…Ensuring a precise and accurate molecular diagnosis is necessary to improve clinical management and for the implementation of effective surveillance and prevention initiatives. The ability to develop a more precise etiological understanding of many human conditions has sparked greater hope in improving our comprehension of the genetic causes of deafness, enhancing the prevention of this condition, and envisioning personalized therapies for patients [53,54]. To carry out efficient precision medicine, it is essential that the patient can provide their data through informed consent and that these data are accumulated in repositories so that researchers can access them and carry out an adequate analysis that allows them to identify not only the cause of that hearing loss but also the development of auditory rehabilitation [55], and eventually, the possibility of personalized treatment.…”