PROJECT NARRATIVE The proposed research is relevant to ethical, legal, and social implications of genomic information sharing as it focuses on evaluating information models which support stewardship of biospecimens and data – including genomic information. This work has the potential to account for a variety of expressions of biospecimen contributors’ preferences and values, as expressed in consent forms, and promotes transparent and ethical use of downstream applications such as those leveraging machine learning and artificial intelligence approaches.
PROJECT NARRATIVE The Moana Project is dedicated to fostering community engagement and dialogue about genetic research within the Pacific Islander community. Our objective is to facilitate the formation of community-led best-practice guidelines and restrictions for future genetic research projects in this community.
PROJECT NARRATIVE To add genomic sequencing into public health newborn screening (NBS) in a way that maximizes benefits (e.g., access to life-saving treatments) and minimizes harm (e.g., treating healthy babies unnecessarily), NBS needs a way to determine for which genes babies should be screened. This project will use the experience of newborn sequencing researchers in combination with the public, parents, patients, and health professionals to identify gene selection criteria to guide ethical and appropriate decision-making on how to select genes to screen.
PROJECT NARRATIVE The goal of this study is to generate supportive scientific evidence for strategies that will facilitate informed decision-making about PS&D by diverse populations of pregnant patients as early as possible in their prenatal care. By achieving the aims of this study, this study will meet the critical need to provide resources to patients as they consider a changing array of PS&D and post-diagnosis options that have significant implications for their health, their pregnancy, and their family.
PROJECT NARRATIVE This study will compare a novel, mobile-friendly, just-in-time consent model to current ways of offering prenatal genetic screening. The clinical trial will recruit at three diverse sites that serve a large pregnant population from historically underserved communities. The goal is to build an ethical and realistic approach to helping pregnant patients make informed decisions about prenatal genetic screening.
We will examine how researchers who are conducting research projects funded by the National Institutes of Health to develop artificial intelligence in healthcare think about and put into practice ideas about diversity and representation. We will create and disseminate evidence-based guidance to support fairness in AI-HC datasets.
PROJECT NARRATIVE No protocol exists for use of living children’s DNA to reunify families separated due to disasters, armed conflict, or migration, despite DNA data being a powerful biometric tool for determining both identity and kinship that meets the needs of pre-verbal children to facilitate safe and prompt reunification of families. This study examines the existing and historic scenarios in which DNA data are or have been used in humanitarian contexts involving children and incorporates key voices to inform a consent protocol for children’s DNA use for reunification.
PROJECT NARRATIVE. Molecular diagnostics (MDx) can provide personalized care and improve patient outcomes; however, disparities in payment for MDx create barriers that delay or prevent patients from accessing these diagnostic tests. The proposed project uses innovative mixed methods to address key gaps in our understanding of MDx payment disparities and identify strategies to promote access to MDx payment pathways. Results will lay the groundwork for developing policy and practice interventions that guide equitable MDx implementation.
PROJECT NARRATIVE The translational gene therapy ecosystem faces several interrelated challenges: 1) obtaining sufficient evidence of safety/efficacy from clinical trials to justify regulatory approval of new gene therapies to treat inherited diseases, various cancers, and other complex diseases; 2) establishing cost and payer coverage policies so patients have access to affordable treatments; and 3) generating sufficient safety and effectiveness evidence of approved gene therapies when used in the clinical setting.
Project Narrative: Pharmacogenomics has the potential to improve medication safety in the treatment of chronic pain—which impacts an estimated 1 in 5 adults; however, testing is rarely ordered. Pain physicians are an understudied group of expert stakeholders. By examining their knowledge, views, and practices with pharmacogenomics, this study will improve our understanding of a) the barriers and facilitators to testing and b) clinical and ethical considerations to guide the use of pharmacogenomics in chronic pain care.