Goranitis and colleagues developed the genomic utility valuation (GUV) scale to enable a standardized measurement and scoring of genomic utility based on 5 key policy priority indicators: clinical, diagnostic, economic, societal, and family utility.
About this listing
ELSI in Review is a listing of recently published reviews of the literature on key ELSI topics curated by CERA staff. Our March 2025 set explores the ELSI of forensic genetic investigations, integrating ELSI study teams in pediatric genomic research, and more. If you would like your ELSI-relevant review featured in this communication, please contact us at [email protected].
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.
PROJECT NARRATIVE Little is known about how health care providers (HCPs) will react to, and use, genomic information in patient care. The goal of this study is to understand how genomic information impacts HCPs and to make recommendations that will enhance HCPs' ability to successful integrate this information into clinical medicine.
