Genotyping for Progress in Hemophilia

 
 

frequently asked questions

  • What is the purpose of this initiative? My Life, Our Future (MLOF) is dedicated to improving the lives of people affected by hemophilia through knowledge. Thanks to support from the community, MLOF has been able to meet and exceed the two primary program goals, genotyping more than 11,000 people affected by hemophilia, and creating the world's largest genetic hemophilia research repository to advance scientific research. With those goals achieved, the program's focus has shifted to the MLOF Research Repository. The MLOF Research Repository is now ready for research and analysis to benefit the care of people affected by hemophilia, including carriers.
  • Who created it?The initiative was founded by leaders in the hemophilia community who are steadfast in their commitment to progress. Each founding partner was committed to achieving the primary program goals and advancing care for individuals affected by hemophilia.

    Currently, the MLOF partners include the American Thrombosis and Hemostasis Network (ATHN), the National Hemophilia Foundation (NHF) and Bloodworks Northwest. Bioverativ provided scientific collaboration and was the sole financial sponsor of the initiative through June 2018.
  • Who can participate? MLOF was available through December 2017 to people with hemophilia A and B through participating hemophilia treatment centers (HTCs), as well as confirmed and potential (unconfirmed) carriers.
  • Where was MLOF available? MLOF was available at HTCs across the U.S. through the end of 2017.
  • If I enrolled, when will I receive my genotyping results? HTCs receive genotyping results within approximately 2-4 months of conducting the test. Genotyping results for samples received at the end of 2017 will be returned to HTCs during the first half of 2018, and shared with you accordingly. Check back with your local HTC for more information.
  • If I wasn't genotyped through MLOF, what options do I have for genotyping now? What's the cost? People affected by hemophilia should discuss with their hemophilia care provider what options are available for them. Hemophilia genetic testing may be covered by some insurance plans. In addition, some HTCs may have funds or research programs that could cover these costs.

    If any member of an extended family has been genotyped, it is almost a certainty that the genotypes are identical and other members of the family don't necessarily need to be genotyped. However, for some DNA changes the laboratory may need evidence that it is present in more than one family member with hemophilia to be sure it is the causative variant (mutation). You can check with your hemophilia provider to see if that is true in your family.

    It is our hope that genotyping will become part of the standard of care for all people with hemophilia in the future.
  • How is my participation supporting research? More than 9,000 members of the hemophilia community consented to participate in research, allowing their de-identified data to be added to the ATHNdataset and coded blood samples added to the MLOF Research Repository — a collection of samples and data for scientific study.

    The long-term goal of this partnership is to help researchers and clinicians better understand connections between the genetic cause of hemophilia and clinical outcomes. With this enhanced database, scientific research may be accelerated to improve scientific understanding and potentially identify new treatment options.
  • Have research findings from MLOF ever been published? Yes, a comprehensive list of MLOF scientific publications and presentations can be found here.
  • Who determines who can access the MLOF Research Repository samples for research? An independent, international, multidisciplinary committee managed by ATHN conducts a rigorous review of these applications to access the MLOF Research Repository. This research review committee includes a molecular pathologist, genetic epidemiologist, patient representative, and hematologists. Bioverativ and/or other industry representatives will not be included on the review committee. Applications will be selected based on scientific merit of their proposals and level of benefit to those with bleeding disorders.
  • Who owns the data and samples contained in the MLOF Research Repository? Data and samples collected through this program are not owned by any particular party and will never be sold.
  • What is a research repository? A repository is like a bank. It is a collection of samples and data collected through the MLOF program, all stored securely. Like a bank account number, your sample and data will be coded to protect your identity and personal information. Your name and other identifying information are never placed in the MLOF Research Repository, so confidentiality and privacy are protected. Once more than 5,000 samples were collected, scientists and researchers at U.S. academic institutions or companies became able to apply for access to this database to support scientifically sound research projects. In addition, through a collaboration with the National Institute of Health, the MLOF Research Repository samples are undergoing whole-genome analysis.
  • Why would someone volunteer to contribute to a research repository? In addition to learning more about your hemophilia today, you can play an active part in helping the hemophilia community. You can help scientists and researchers better understand hemophilia by contributing to medical research.
  • Will all samples in the MLOF Research Repository undergo whole genome sequencing? To date approximately 5,000 blood samples in the MLOF Research Repository have undergone whole genome sequencing through a partnership with the National Heart, Lung, and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program. Plans for performing whole genome sequencing on all remaining samples in the MLOF Research Repository have not yet been determined.
  • When will the research be complete? The MLOF Research Repository began accepting applications from U.S.-based researchers in 2017. There are currently seven approved research projects, and the next application cycle is anticipated to be announced in 2019. Check back regularly to learn more about the approved research projects and their progress.
  • What questions do you anticipate researchers hope to answer using the MLOF Research Repository? The long-term goal of MLOF is to help researchers and clinicians better understand connections between the genetic cause of hemophilia and clinical outcomes. With a central database of data and blood samples, research may be accelerated to improve scientific understanding, including:

    ~ Which genetic changes influence joint disease?
    ~ Which variants increase the risk of inhibitor development?
    ~ Why does bleeding severity vary from person to person?
    ~ Which variants may be easier to “edit” (i.e., change or replace)?

    The seven approved research projects from the first MLOF Research Repository application cycle will investigate inhibitor development, bleeding specific to hemophilia A and B, as well as carriers, and F8 clearance.

  • When will results of the first MLOF Research Repository application cycle studies be shared? During the first application cycle, seven research projects were accepted based on scientific merit and level of benefit to those with bleeding disorders. Those projects will investigate inhibitor development, bleeding specific to hemophilia A and B, as well as carriers, and F8 clearance. For more information about progress made as a result of scientists' access to the MLOF Research Repository, visit http://www.mylifeourfuture.org/research.html. We will continue to update this page with project details and other scientific publications related to the MLOF Research Repository as available.
  • Will MLOF enroll participants again in the future? What about participants with other bleeding disorders? The MLOF partners are currently exploring funding opportunities to support additional enrollment in the future, with the aim of expanding to participants with other bleeding disorders. Check back regularly to learn more about future opportunities to participate.
  • Can I change my mind if I've already participated? Data submitted to the ATHNdataset and any samples already given to researchers will not be able to be pulled and/or destroyed. Information on this process is included in the informed consent form provided to you before you are genotyped.
  • How can I get more information about MLOF? We encourage you to learn more via an informational video and to sign up to receive updates from NHF. You may also contact the staff members at HANDI, NHF's information resource center, who are available to answer live requests from Monday through Friday, 9:00 AM to 5:00 PM Eastern Time, at 800.42.HANDI. Requests can also be sent by fax to 212.328.3799 or email to handi@hemophilia.org. Information requests made through HANDI are always kept confidential.
  • Where can I learn more about genotyping? In addition to HANDI, there are many resources available on the benefits of genetic testing:Genetic Alliance: A health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities.About Health Information Privacy: Background information from the U.S. Department of Health and Human Services on federal laws and regulations designed to protect your privacy.About the Genetic Information Nondiscrimination Act (GINA): Background information from the National Human Genome Research Institute of the National Institutes of Health on a federal law that protects against genetic discrimination in health insurance and employment.