A recent article appearing in the journal Haemophilia, includes updates on the My Life Our Future (MLOF) project, which was established in 2012 to offer U.S. hemophilia patients ready access to free genotyping, a type of genetic testing that is often hard to access, expensive and not covered by insurance. MLOF is a partnership between the American Thrombosis and Hemostasis Network (ATHN), the National Hemophilia Foundation (NHF), Bloodworks Northwest and Bioverativ (formerly Biogen).

The lead author of the article and primary investigator of MLOF is Barbara Konkle, MD, Professor of Medicine in the Division of Hematology at the University of Washington School of Medicine in Seattle, WA. She is also Director of Clinical and Translational Research, Associate Director of the Washington Center for Bleeding Disorders, and Director of the Hemostasis, Platelet Immunology and Genomics Laboratory at Bloodworks Northwest.

Genotyping, which is conducted through the laboratory analysis of a single blood sample, can reveal the specific genetic mutation responsible for a patient’s disease such as those located in the factor VIII and factor IX genes in the case of hemophilia A and hemophilia B. Individuals who participate in MLOF can also consent to have a blood sample, with their de-identified genome sequence data, deposited into the MLOF Research Repository. Scientists can apply for access to the database to support their research. Acceptance is dependent upon their ability to demonstrate both scientific merit and ultimate benefit to patients.

The authors report that the initial phase of MLOF completed patient enrollment in December 2017. Individuals accessed the program through the network of participating U.S. hemophilia treatment centers. ATHN then ensures the secure collection and storage of patient data. In all 11,356 hemophilia patients, genetic carriers and potential carriers were included, with genotyping analysis completed in 9,453. Investigators have identified 687 unique previously unreported genetic variants in 1,111 patients. Overall, 81% of participants also elected to enroll in the research repository, which is already contributing to approved research projects.

The authors emphasized the project’s potential to enhance scientific advancements and that will translate into real world breakthroughs in treatment and management. In fact, researchers are already developing a better understanding of the impact of genetic variants, which will help clinicians to anticipate bleeding frequency, severity, inhibitor development and risk, patient response to therapy and to optimize care in pregnant carriers and neonatal management.

In addition, DNA from 5141 MLOF participant blood samples are receiving whole-genome sequencing with the help of the National Heart, Lung and Blood Institute (NHLBI). The mission of the NHLBI-sponsored Trans-Omics for Precision Medicine (TOPMed) program is to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders. The program is part of the National Institutes of Health’s Precision Medicine Initiative, which was established to provide disease treatments tailored to a person’s “unique genes and environment.”

“MLOF is the largest genetic programme in haemophilia to date, providing genetic information for patients and their families to help inform clinical care and reproductive planning and to the haemophilia community to inform a better understanding of haemophilia genotype interpretation,” explained the authors. They go on to emphasize the synergistic effect that the repository, ATHN database and TOPMed program will have in creating an invaluable resource for bleeding disorder research. These efforts also demonstrate “the power of diverse organizations working together to advance science, expand knowledge and improve health outcomes.”

Konkle B, Johnsen J, Wheeler M. Genotypes, Phenotypes and Whole Genome Sequence: Approaches from the My Life Our Future Haemophilia Project. Haemophilia. 2018 May; 24(S6): 87-94.

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