PROJECT NARRATIVE Human genome editing technologies are evolving rapidly and with this evolution brings questions regarding governance and the ethical implications involved in applying these technologies. The He Jiankui controversy is the primary example of the potential exploitation of HGE and the importance of self-governance. This project will be the first case-study to evaluate self-governance in the realm of human genome editing technologies, the findings of which will be validated through a survey of HGE scientists.
PROJECT NARRATIVE At least 15% of children with cancer have an underlying genetic cause of their cancer, requiring significant counseling regarding therapy modifications, cancer surveillance, and lifestyle changes for both the patient and their family. There is a shortage of qualified genetic counselors available to meet with these families, especially in the stressful setting of cancer diagnosis.
Project Narrative Studies suggest that distrust is a major barrier for participation of minorities in Precision Medicine Research (PMR), though no study has examined the sources of (dis)trust and factors affecting views on trustworthiness of PMR among people with disabilities. This study proposes to engage with people with mobility, visual and hearing disabilities?the most common conditions in the U.S.?across racial/ethnic communities and with translational genomic researchers, the leaders in PMR, to close this gap.
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.
Genetic data partnerships: Enabling equitable access within academic/private data sharing agreements
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.
PROJECT NARRATIVE Human genome editing is a powerful tool for creating precise changes to the genome, the complete set of genetic material. However, human genome editing raises significant ethical, legal, and social challenges, and making policy that can better anticipate and prepare for these challenges is urgently needed. This project will be the first comprehensive empirical study to apply strategies of anticipatory governance to the management and control of human genome editing technologies.
PROJECT NARRATIVE The University of Utah Center for Excellence in ELSI research explores issues relevant to population testing and screening for genetic conditions in the healthcare of women and children, as well as ELSI issues arising from testing and screening in the broader family context and responses to disabilities identified through genetic technologies. The Center supports cores in research, education and career advancement, and administration.
PROJECT NARRATIVE The ability to recruit and protect research participants across multiple sites and multiple states is critical to the success of large-scale precision medicine and other biomedical research supported by the National Institutes of Health and other federal agencies to improve human health. Accomplishing this task requires a clear understanding of which state?s laws apply and under what circumstances, but the empirical and normative foundations for addressing choice of law questions in a research context are lacking.