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My Life, Our Future: A multi-sector collaboration to provide genotyping services and a research repository for the hemophilia community expands from pilot to national program
Hemophilia genotype provides meaningful information about bleeding severity, inhibitor risk, carrier detection and prenatal diagnosis. U.S. lags behind other developed nations in conducting genotype analysis of hemophilia patients. A multi-sector collaboration, known as My Life, Our Future (MLOF), was formed to launch a program addressing this need.
Methodology
MLOF is a formal collaboration between American Thrombosis and Hemostasis Network, National Hemophilia Foundation, Puget Sound Blood Center and Biogen Idec Hemophilia to offer free genotype analysis and create a research repository of blood samples and genetic data that could be matched to phenotypic data collected separately. Combining their expertise with Hemophilia Treatment Centers (HTCs), the partners implemented a pilot program, including a suite of educational materials for patients and HTCs. Following the successful pilot with 11 HTCs, MLOF is now open to all 137.
Significant Results
Of the first 337 patients who received genotype analysis through one of 15 HTCs, 276 (81.9%) had hemophilia A and 61 (18.1%) hemophilia B. About half had severe disease. Most frequent mutation type was missense: 52% in hemophilia A, 81% in hemophilia B. The overwhelming majority of patients learned of the program through direct contact with their HTC or MLOF educational programs. Priority questions addressed through the education programs included patient privacy protections, expanding staff capacity, amount of blood required and system-related issues.
Conclusions
Through collaboration, the partners are providing access to genotype testing at no cost and building a data and bio-repository to support future research. This project can inform other rare disorders.
Learning Areas:
Chronic disease management and preventionClinical medicine applied in public health
Public health or related research
Learning Objectives:
Demonstrate the impact of multidisciplinary collaboration in offering a free genotype testing service and a research repository for a rare disorders population.
Keyword(s): Genetics, Chronic Disease Management and Care
Qualified on the content I am responsible for because: I have been principal or co-principal of multiple federally funded grants. Currently, I am Director of the National Hemophilia Program Coordinating Center funded by HRSA's Maternal and Child Health Program as well as Director for the CDC public health surveillance program in bleeding disorders. I represent one of the founding partners for the My Life Our Future Program, representing the participating treatment centers.
Any relevant financial relationships? No
I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.