Advances in technology have led to the availability of genetic testing for a wide range of conditions for healthy or high-risk newborns. It is expected that the funds spent on genetic testing in the U.S. will reach $25 billion by 2021. With the numerous uses of genomic information, understanding the clinical value and long-term impact of genomic technologies on morbidity, mortality, quality of life, and diagnosis and treatment costs is essential.
Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.
While the value of identifying individuals in the population who carry `actionable' variants and screening their relatives (i.e. cascade screening) is widely acknowledged, there are numerous barriers in implementing this process and studying the optimal approaches for doing this. First, the feasibility of returning genetic results is complex as it depends on many issues, including the community expectations, consent form language, local IRB considerations, and logistical, feasibility, and cost issues, among others.
The purpose of this study is to assess assenting and consenting adolescents choices about learning genomic research results. We will refine existing decision tools and processes to promote informed genomic decision-making through the use of focus groups with adolescents and parents recruited from an existing genomic research study and a diverse, medically-underserved community to assess whether and how recruitment pathways impact perceived value, risks, and benefits of participation in genomic research and return of personal genomic information.
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. Advances in psychiatric, neurologic and behavioral (PNB) genetics have brought the prospect of predictive and diagnostic genomic testing for many PNB conditions closer to clinical application. The potential for such findings to profoundly affect core elements of personhood?including identity, perceived responsibilities, and life trajectories?makes it essential to understand the impact of such information on individuals and families.