Project Summary Navajo people (the Diné) experience more health disparities compared to the general population and have higher prevalence of certain genetic diseases and disorders. There is limited research on disease, treatment, and prevention, and underrepresentation in genetic and genomic research studies remains a concern. The Navajo Nation’s Health and Human Services Committee (HHSC), representing the largest tribe in the southwestern U.S.

Innovations in precision medicine are rapidly changing scientific understandings of the causes of and potential treatments for the broad range of health conditions affecting the one-in-four Americans living with disabilities. Alongside the potential benefits of precision medicine research (PMR) initiatives comes a diversity of perspectives on the role PMR and precision medicine should play in treating or curing disabling conditions.

ABSTRACT - Ethical, Legal and Social Implications Core The Human Virome Program (HVP) will build on its predecessors, the Human Genome Program (HGP) and the Human Microbiome Program (HMP), which also enrolled large and diverse cohorts of human participants and used DNA sequencing to characterize key aspects of human biology. Such deep characterization is critical for understanding and improving human health, but also might pose risks to individual participants, their communities, and researchers and funders involved in the work.

Project Summary: The Ethical, Legal, and Social Implications (ELSI) Core The ELSI Core will ensure the protection of participants, investigators, and staff in matters of privacy, safety, and legality by providing guidance on ELSI and policy issues. Qualified and experienced ELSI Core personnel will accomplish this goal by creating and managing a cross-cutting communication structure across the other 4 VCC Cores (Administrative, Biospecimen Collection, Biospecimen Analysis, & Data Analysis and Submission).

Ethical, Legal, and Social Implications Core: Abstract The Human Virome Program (HVP), which aims to broadly characterize the composition of the human virome across the lifespan in longitudinal, demographically diverse healthy human cohorts, has the potential to catalyze extraordinary progress to enhance our understanding of the virome’s role in human health and disease.

ELSI CORE ABSTRACT The VAST ELSI core aims to synchronize across all VAST cores to critically engage and innovatively approach the understanding of human Viromes in research particularly in the clinical and public health contexts. Our focus will additionally be on indigenous communities in the US Northern Plains region, and other marginalized communities with similar concerns and interests over big-data science and open data sharing. Our co-development of best practices guidelines can give rise to better virome science through ethical reflection and meaningful engagement.

Meaningful research in the Human Virome Program (HVP) will require the collection of vast amounts of information - a process that raises a host of novel ethical, legal, and social implications (ELSI). To address these challenges, we have assembled an ELSI Core for this Virome Characterization Center (VCC) that is multidisciplinary in its design, incorporating expertise in bioethics and law, public policy, informatics, and data privacy.

Project Summary: Patient and family groups (PFGs) have long supported rare disease research as fundraisers and advisers. But today, they increasingly drive the research agenda, working in partnership with academic institutions, drug developers, and regulators to shepherd new therapies from basic research to commercialization.

Project Summary: The outlook for many childhood-onset genetic conditions has markedly improved in the last few decades because of specialized care, supportive treatment, and the introduction of disease-modifying therapies. Thus, increasing numbers of adults with childhood-onset genetic diseases are outliving their historical expectations. These welcome improvements create substantial prognostic uncertainty because the long-term impact of both novel treatments and aging in these diseases are unknown.