Genomic risk in clinical care to promote preventive health in New York City patients

PROJECT SUMMARY Building on our track record in genomic research, clinical trials, and genomic medicine in patients from NYC, we propose to develop new frameworks to bring genomic risk into clinical care to promote preventive health. Polygenic risk scores (PRS) are entering an exciting phase where they are poised to improve health outcomes for myriad complex diseases through enhanced risk stratification and clinical decision making. However, major challenges exist for clinical PRS implementation today, including issues of access to leading-edge genomic technology, research, and testing, and barriers to uptake of medical recommendations. To address this, Mount Sinai experts in statistical genetics and population genetics, with decade-long experience in building methods for genetic risk prediction, will work together to rigorously develop robust clinical PRS tests. We will integrate clinical PRS with standard clinical risk and family history information to generate genomic risk assessments for up to 15 common diseases. Drawing on Mount Sinai's century of experience delivering excellent patient care, we will recruit 2,500 adult and pediatric patients into a clinical trial. We will estimate participants' individualized risk for each condition, and investigate the impact of genomic risk communication to patients and their physicians, including patient understanding and uptake of recommended risk-reducing interventions. We attitudes, be communication will explore barriers, and communication preferences related to genomic risk assessment. Knowledge gained will used to guide the development of a new patient-facing digital platform supporting patient education and of genomic risk. We will track patient engagement with their results through the platform, and assess the impact of individualized genomic risk assessments on patient-reported psychosocial outcomes and experiences. As of today, the path to effectively integrate genomic risk into clinical care in busy health systems, is unclear. Hence, we are partnering with clinicians, scientists, industry experts, and community stakeholders to explore a range of strategies to assess, communicate, and reduce disease risk, in order to maximize the efficiency of genomic medicine delivery.