Research

People with disabilities comprise the largest health disparities group in the US. Their inclusion in precision medicine research is essential for health benefits to accrue to them and for upholding social justice by treating people with disabilities as equal members of society. Yet, people with disabilities are underrepresented in health research, including precision medicine research, though the reasons for this outcome are understudied. Research shows that trust is key for promoting ethical research and that distrust is a major barrier for participation of racial/ethnic minorities in precision medicine research. However, what constitutes trust and the factors affecting views on trustworthiness of precision medicine research among people with disabilities and translational genomic researchers are understudied, even as such views may be critical for disability inclusive precision medicine research.

Our study engages with people with mobility, visual and hearing disabilities across racial/ethnic communities and with translational genomic researchers to close this gap. We will use a disability, community-based participatory research approach, and Concept Mapping, a multi-step process with mixed-methods design to develop a nuanced conceptual framework for understanding (dis)trust in PMR and an actionable, evidence-based roadmap for enhancing trustworthiness of precision medicine research among people with disabilities.

The study aims are to:

Identify domains of (dis)trust in and trustworthiness of precision medicine research among people with mobility, vision and hearing disabilities

Compare sources of (dis)trust in and features of trustworthiness of precision medicine research among people with mobility, vision and hearing disabilities across racial/ethnic groups and between people with mobility, vision and hearing disabilities and translational genomic researchers

Develop evidence-based recommendations for building trust in precision medicine research among people with mobility, vision and hearing disabilities.

The return of individual genetic results in nephrology is key for translational genomic efforts to promote patients’ clinical care, but its success hinges largely on the ability of nephrologists and nephrology researchers to implement and facilitate the process. However, no clear policies currently exist about return of genetic results in nephrology research, and no study to date has explored the ethical and practical challenges nephrologists experience in this process. The supplement collaborates with CureGN, a 70-sites consortium dedicated to the return of genetic results for rare renal disorders, and national organizations devoted to cure heritable renal diseases, to investigate the experiences of nephrology healthcare providers in returning genetic results from research.

Aim 1: Identify overarching ethical and practical challenges in return of genetic results in nephrology research and possible remedies for these challenges by surveying adult and pediatric nephrologists and other nephrology providers

Aim 2: conduct an iterative process to develop recommendations for return of genetic results from nephrology research.

Research Team:

Hila Milo Rasouly, PhD

Maddalena Marasa, MD

Olivia A. Balderes, MA

Victoria Kolupaeva, PhD

Maya Sabatello, LLB, PhD

Ali Gharavi, MD

Adults with intellectual disability experience significant health disparities and may benefit from precision medicine research advances. However, they are underrepresented in research and understanding of solutions to the ethical, legal, and social consent-related challenges that present barriers to their inclusion in this research is limited. Gaps in knowledge about the views of adults with intellectual disability on key issues in precision medicine research such as genomic privacy and empowerment as well as absence of practical tools for precision medicine researchers perpetuate their exclusion and create barriers to generating new knowledge to address the health needs of this underserved population. Our multidisciplinary team and academic-community partnership will explore these challenges and address them by developing a disability accessible and protocol-adaptable precision medicine research consent toolkit. 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 to inclusion in precision medicine research. The Project ENGAGE toolkit will help precision medicine researchers avoid the pitfalls of bias and upholds principles of human agency valued by community members and yield critical theoretical and practical insights to precision medicine research inclusive of adults with intellectual disability.

The use of Artificial Intelligence and Machine Learning (AI/ML) analytical tools to predict disease risk, onset and progression, and treatment outcomes is growing and holds promise for improving health outcomes for marginalized health disparities population. Blind people experience significant health disparities and could benefit from AI/ML advances but disability bias in clinical settings—independently and compounded by racial and gender biases—may preclude the potential benefits from accruing to them. This study emerged from, and continues to employ, community-based participatory research. It builds on an intersectionality framework to explore disability and racial and gender biases in electronical medical records (EHRs) of blind and nonblind diabetes patients, and to develop reproduceable, publicly available phenotype definitions and a list of disability biasing language. Our multidisciplinary team comprises expertise in ELSI research, disability studies, medicine, computer science and biomedical informatics. This project has the potential to inform equitable AI/ML models in clinical care, improve health outcomes of an often invisible but large and growing health disparity population, and build a dialogue on disability ethics and equity of AI/ML among clinicians, data scientists, blind adults, and ELSI researchers.