My life, our future: A multi-sector partnership to generate genotype and research data within the hemophilia community

OBJECTIVES Hemophilia genotype provides information for prenatal diagnosis, carrier detection, disease severity assessment, and inhibitor risk. Approximately 20% of the U.S. hemophilia community has been genotyped, considerably less than in other developed nations. My Life, Our Future is a community partnership formed to conduct wide-scale genetic testing and generate data to advance scientific research, leading to new treatments. METHODS A multi-sector partnership of non-profits and healthcare entities was formed to make hemophilia genotype analysis available to the U.S. community. American Thrombosis and Hemostasis Network, non-profit with 130+ affiliated hemophilia treatment centers (HTCs), provides HTC provider education, secure infrastructure for data collection, and point of access for data and samples for research. HTCs deliver genetic services, using Puget Sound Blood Center as central genotyping laboratory and sample repository. National Hemophilia Foundation, non-profit with 62 chapters, educates consumers and supports recruitment. Biogen Idec Hemophilia provides scientific expertise and funding. Partners conducted national surveys of patients and providers to assess genetic literacy, identify testing barriers, quantify demand and uncover support needs. RESULTS Through collaboration, the partners are expanding provider capacity to conduct genetic testing and individualize care; increasing awareness about value of genetic testing within the hemophilia community; enabling testing at no/low cost, overcoming insurance barriers; and building data and bio-repository to support future research. A pilot involving 11 HTCs and corresponding chapters is underway. Lessons learned will inform the 2013 national implementation. CONCLUSIONS My Life, Our Future is a novel partnership to address unmet needs for hemophilia genotyping services and research.