Narrative The diversification of genomics research cohorts is a national priority intended to accelerate research and improve individualized prevention, treatment and care. Concrete, tailored strategies are needed to ethically engage various individuals living in the rural South to promote equitable access to genomic discovery and translation. Thus, the proposed study leverages a multi-disciplinary team and stakeholder-engaged approach to ultimately identify best practices for community translation of genomic discoveries.

PROJECT NARRATIVE Research in reproductive genomics is shifting, from diagnostics to interventions in the human genome, epigenome, and microbiome. But we lack ethical guidance about how to conduct these human trials without causing undue harm, especially in regard to the women participants who are a necessary part of such trials. By building an ethical framework and a toolkit to guide researchers and institutional review boards, this project will create robust guidance for research in reprogenomics and a broadened consensus on these technologies among key professional bodies.

PROJECT NARRATIVE Though any single rare disease is by definition uncommon, together these diseases affect nearly 30 million individuals in the United States, two-thirds of whom are children, and contribute significantly to morbidity, mortality, and healthcare costs. Exome and whole genome sequencing have the potential to provide a diagnosis to an estimated 25 to 50 percent of those patients struggling with undiagnosed rare diseases, but the downstream costs and benefits of this testing beyond diagnosis remain largely unknown.

This Pathway to Independence Award (K99/R00) investigates and leverages perspectives from members of the health-related private sector genomics industry, to develop guidance for improving approaches to social and ethical issues in the industry. It does so through in-depth qualitative analysis (interviews, cases studies, comparative analysis), scholarly normative analysis (drawing on theories from bioethics and business ethics), and a Delphi process of iterative questionnaires with industry stakeholders, aimed at strategizing concrete change regarding social obligations of the industry.

PROJECT NARRATIVE/ RELEVANCE OF PROJECT TO RESEARCH AND PUBLIC HEALTH Widespread utilization of genomic sequencing in medicine creates an urgent need to educate providers and patients. Currently, providers frequently misinterpret genomic information and patients often don't understand their own test results. In order to address this critical need, we propose to design and test multiple e-Health communication tools that will help providers and patients to better understand genomic data, lead to higher quality patient care, and facilitate genomic information sharing within families.

PROJECT NARRATIVE Very little research has been done regarding non-STI-related health disparities affecting sexual and gender minorities (SGM). Even less is known about what these minorities think about the desirability of research that combines genetic variation and data about sexual orientation and gender identity with other health and demographic information, strategies required to understand and address these disparities.

PROJECT NARRATIVE: Recent recommendations to return children?s results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a large-scale basis, mean adolescents will increasingly be engaged in assenting (<age 18) and consenting (>age 18) to return of genomic research results. There is an urgent need to understand adolescents?

PROJECT NARRATIVE ?Precision medicine? and other advances in genetic research require access to massive amounts of genetic and related health data, but private genetic datasets are growing rapidly in both value and size and pose a challenge to the public genetic data market. This research proposes to characterize and evaluate the factors influencing these genetic data partnerships (beginning with academics), compare market drivers to current existing governance structures, and offer a model for best practices.