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.

In the emerging era of precision medicine, there have been increasing calls for diversity and the inclusion of historically under-represented racial and ethnic populations in biobanking and precision medicine research. Recent findings suggest that the lack of diversity in genetic repositories may pose serious challenges to identify genetic variants that are clinically significant in certain populations. These concerns have been linked to ethical concerns over disparities in health and disease among racial and ethnic groups.

The North Coast Conference on Precision Medicine is a national annual mid-sized conference series held in Cleveland, Ohio. The conference series aims to serve as a venue for the continuing education and exchange of scientific ideas related to the rapidly evolving and highly interdisciplinary landscape that is precision medicine research. The topics for each conference coincide with the national conversation and research agenda set by national research programs focused on precision medicine.

Patient engagement is critical for implementation of the genomic component of precision medicine--with care taken to include the perspectives and needs of patients. Yet many patients may experience significant barriers to understanding genetic information and/or using the electronic patient portals that many health systems are using to meet the terms of meaningful use related to the return of laboratory and test results.

A major challenge for precision medicine research is including historically under-represented groups in numbers sufficient to ensure statistically valid inferences of the influence of relevant risk factors, including genetic contributions to disease risk. Precision medicine researchers have recognized the critical need to enhance diversity and have implemented a wide variety of approaches to achieve this.

Candidate: Kayte Spector-Bagdady, JD, MBE, is an attorney and medical ethicist focused on the governance of secondary research use of human specimens and genetic data. Her long-term career goal is to become an independent investigator leading the development, conduct, and translation of mixed methods ethical, legal, and social implications research into improved genetic data-sharing governance. Research Context: “Precision medicine” and other advances in genetic research offer opportunities to improve diagnosis and therapy for millions of patients.

The application of new computerized methods of data analysis to vast collections of medical, biological, and other data is emerging as a central feature of a broad vision of precision medicine (PM) in which systems based on artificial intelligence (AI) assist clinicians in treatment, diagnosis, or prognosis. The use of AI to analyze big data for clinical decision-making opens up a new domain for ELSI inquiry to address a possible future when the implications of genetics and genomics become embedded into algorithms, pervasive yet implicit and difficult to identify.

Sexual and gender minorities (SGMs) experience significant disparities in health and health care. These inequities result from complex interactions among social, political, environmental, and genomic factors, all of which must be understood if we are to address these disparities. The research needed to understand the health issues faced by SGM populations will often require analysis of large collections of individual phenotypic and behavioral information, community characteristics, and large-scale genomic data.

Through the combined study of individual variation in genes, environment, and lifestyle, precision medicine research offers the potential for discoveries that will improve human health. Spurred by the declining cost of next-generation sequencing, widespread use of electronic health records, proliferation of wearable devices, and other technological advances, the immense scale required for such research is now within reach. These same characteristics, however, escalate the challenge of protecting research participants.