Surfacing values in the economic evaluation of genomic sequencing for diagnosis of children with rare diseases

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The breakthroughs in diagnosis of rare diseases made possible by genome sequencing (GS) are some of the most exciting in medicine today. Rare diseases affect nearly 30 million individuals in the United States, and two-thirds of those affected are children. Studies suggest that GS (including exome and whole genome sequencing) may be able to provide a diagnosis to up to 50 percent of patients previously undiagnosed after extensive clinical and genetic testing. However, the downstream benefits and costs of these tests for patients, families, and the healthcare system remain poorly defined and methodologically challenging to assess. In response to these challenges, leaders in health economics and policy have called for the development of new, interdisciplinary methods for defining and measuring the value of GS. In order to ensure these methods are not only accurate, but also ethical, it is critical to bring to the surface a consideration of the values and preferences of various stakeholders (i.e., patients, families, clinicians, payers) involved in the use of GS for diagnosis of rare diseases, and whose values are served by different methodological approaches to defining and measuring the value of GS. The goal of the proposed research is to examine both how we can, and how we should, define and measure the value of GS for pediatric patients with rare diseases. This proposal has three specific aims. Aim 1: to identify the range of potential downstream impacts of GS for pediatric patients undergoing GS for diagnosis of rare diseases and their families, using in-depth ethnographic methods to capture perspectives of diverse stakeholders. Aim Two: To build on Aim 1 to develop a framework mapping the range of costs and benefits of GS as they relate to a) diverse stakeholder perspectives on the value of GS for diagnosis of rare diseases; and b) relevant domains of health-related quality of life (HRQL) for pediatric patients with rare diseases. Aim Three: To build on Aim 2 to develop a preference-based measure for assessing the impact of GS on HRQL specifically for pediatric patients with rare genetic diseases for use in future economic evaluations of GS. If successful, the proposed research will provide essential and timely data to guide policy recommendations for effective, ethical, and equitable implementation of GS in clinical care. Dr. Halley will achieve these aims by drawing on her current skills in ethnography and health services research, as well as on additional training in biomedical ethics, genetic and genomic testing, and health economics, to be carried out at the Stanford Center for Biomedical Ethics. Dr. Halley is already an accomplished scholar with a track record of high-quality research. The proposed training and mentored research will provide her with the additional knowledge and skills necessary to become an independent, interdisciplinary researcher examining the ELSI of new genomic technologies, with a focus on the intersection of medical anthropology, biomedical ethics, and health economics.