Disability Inclusion in Precision Medicine Research: A First National Survey
Precision medicine research aims to develop a new healthcare model in the United States. Instead of using a “one size fits all” approach, the hope for precision medicine is that it will enable tailoring of diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. By doing so, precision medicine research also aims to reduce health disparities in the country.
Researchers from the Columbia University Department of Psychiatry and the New York State Psychiatric Institute just published the first national study (and as far as we know, the first worldwide) to explore the views of people with disabilities about participation and barriers to participation in precision medicine research.
People with disabilities comprise 20-25% of the U.S. population and the largest health disparities group in the U.S. The history of people with disabilities and genetic research, as well as ongoing genetic practices such as prenatal genetic testing, have also been particularly fraught. But if people with disabilities are not included in precision medicine studies, they are unlikely to enjoy the benefits of this type of research. For example, finding tailored medication that would improve cancer survival rates among people with mental disabilities, who are routinely excluded from clinical trials. Yet, no study to date has explored what people with disabilities think about precision medicine research, whether they want to participate in such research, and importantly, the barriers to their participation.
“We conducted a disability-accessible online survey, in collaboration with several national organizations of people with disabilities. One thousand two hundred ninety-four who identified as being deaf/hard of hearing, blind/low vision, and Autistic, or as having physical, intellectual, learning or mental health/psychosocial disabilities completed the survey, which was available in English, Spanish and American Sign Language,” says Maya Sabatello, LLB, PhD, Assistant Professor of Clinical Bioethics (in Psychiatry) at Columbia University Irving Medical Center and lead author of this study, published in Genetics in Medicine.
The findings indicate very high support and interest in long-term participation in precision medicine research (89%), including a majority of participants who stated they would be willing to provide a blood sample, urine and saliva, and lifestyle information (diet, for example). Significantly, however, participants in the study were less willing than the general public to provide genetic (respectively, 63% vs. 76%) or family medical history (respectively, 59% vs. 77%). These findings suggest that, indeed, many people with disabilities may still be concerned about genetic research, including when used in precision medicine research. There is a need to work with the disability community to better understand how to reverse and rectify this lack of trust.
“We were surprised that half of our participants were not willing to provide samples of soil or water from around their home, and Black/African American participants were even more reluctant to provide such environmental samples (32%),” continues Sabatello. “In the disability rights world, we have often asked what in the environment is disabling people from fully participating in society, rather than focusing on physical or psychosocial limitations an individual may have, and so we thought that our participants will be equally eager to show how their environments are a cause of concern.”
There are, however, two other key findings that are particularly important for precision medicine initiatives to keep in mind.
The first one concerns barriers to participation in precision medicine research. The researchers asked their participants what may prevent them from participating and gave them a list of items that were developed on the basis of existing literature on access to healthcare (e.g., inaccessible clinics, transportation and information), disability studies (e.g., concerns about harm) and other studies with historically marginalized groups (e.g., lack of (disability) competency among researchers and healthcare providers). “What we found is not only that many separate barriers were selected by a large portion of our participants (32%-56%), but also that the significant majority of our sample (76%) described between 3-8 of these barriers. It is therefore clear that precision medicine initiatives need to remove these barriers, otherwise health disparities experienced by this population will likely increase further, in contrast to the promise of precision medicine research,” says Sabatello.
The other important finding is that the overwhelming majority of participants said they want to be actively involved in study design, for example, choosing research questions (86%), and that they think that participants and researchers should be equal partners. To date, however, precision medicine initiatives have not placed such an emphasis on the disability community. Sabatello asserts that, “Our findings highlight the crucial need for engagement with various disability communities for conducting precision medicine research that is responsive to their needs and interests. This will require precision medicine researchers to have greater awareness of accessibility issues and it will require them to treat people with disabilities with humility and respect as equal partners.”
Further research about “how to do it right” is clearly needed. But one thing is certain: it will be a hard sell to say that a precision medicine initiative is inclusive and trustworthy if people with disabilities—20-25% of the U.S. population—are not a part of the conversation.
The other authors of “Disability Inclusion in Precision Medicine Research: A First National Survey,” published in Genetics in Medicine, are Ying Chen, MD, MS, MA, Yuan Zhang, MS, MA, and Paul S. Appelbaum, MD. The research is supported by NHGRI/All of Us Research Program grant 3P50HG007257-05S1, K01HG008653, and NIH Office of The Director (OD). Maya Sabatello is an IRB member of the All of Us Research Program.