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My Life, Our Future

Hemophilia is a genetic disorder that primarily affects men and boys. It is caused by a mutation in a gene that encodes instructions for making a clotting factor. The mutation interrupts the production of functional clotting factor protein, and as a result the ability of a person’s blood to clot is impaired. Through genetic testing, or genotyping, it is possible to identify the specific mutation, or genotype, responsible for a person’s hemophilia.

How is genotyping performed?

Genotyping, which is also called genetic testing, involves laboratory analysis of DNA to determine the specific mutation responsible for a person’s hemophilia. Genotyping is ordered by a patient’s physician and conducted by a specialized laboratory with expertise in hemophilia gene sequencing. It involves a simple blood test to obtain a small blood sample, which is sent to the specialized laboratory for testing. Once the analysis is performed, a clinical report summarizing the test results is sent to the physician who ordered the test and shared with the patient to inform treatment and care.

How is genotyping used in hemophilia?

Genotyping can provide unique and meaningful information about a person’s hemophilia. For example, certain genotypes have been associated with an increased risk of severe bleeding or inhibitors, a major complication of hemophilia that involves an immune response to treatment. Other uses of genotyping in hemophilia include carrier testing to assess whether a woman carries a mutation that could be passed on to her children. This information may aid in family planning, as well as inform special care procedures to protect the health of a newborn child and his mother.

How can genotyping be used to advance research in hemophilia?

Beyond the immediate applications in patient care, genotyping can also serve as a critical roadmap to greater scientific understanding of hemophilia. By thoroughly investigating the connections between the genetic cause of hemophilia and clinical outcomes, scientists may be able to identify new ways to improve management of the disorder through individualized treatment approaches.

Given these benefits, has genotyping been adopted by the hemophilia community?

Despite the potential benefits, nationally only about 20 percent of people with hemophilia have been genotyped. Outside of the U.S., developed countries, including Australia, Iceland and the United Kingdom, offer genotyping to people with hemophilia as a matter of standard care.

In a recent hemophilia community survey conducted by NHF, nearly 62 percent of people who had not been genotyped cited cost or insurance coverage restrictions as barriers. In the same survey, more than 75 percent of all respondents expressed strong interested in receiving a genotyping service.

What is My Life, Our Future?

My Life, Our Future is a new partnership between the American Thrombosis and Hemostasis Network (ATHN), the National Hemophilia Foundation (NHF), Puget Sound Blood Center (PSBC) and Biogen Idec Hemophilia that will offer free or very low cost genotyping analysis to people with hemophilia and their families through their local Hemophilia Treatment Center (HTC).

The initiative brings together leaders from all sectors of hemophilia care – patient advocates, healthcare providers, laboratory specialists and biotechnology industry scientists – to help people with hemophilia and their families gain greater control over their care by understanding their personal genetic profile, and to increase knowledge about hemophilia for future generations. The program hopes to catalyze research by adding genetic data to the ATHNdataset, an existing dataset under the stewardship of ATHN. With this enhanced database, scientific research may be accelerated to identify new treatment options and, perhaps one day, a potential cure for hemophilia.

How can people with hemophilia and their families participate in My Life, Our Future?

Beginning in 2013, My Life, Our Future will offer a genotyping service to people with hemophilia and their families through participating HTCs. Initially, the program will focus on providing genotyping to people with hemophilia. Over time, the program will be expanded to include family members who may carry the gene for hemophilia.

Participation will require a simple blood test, which will be sent to PSBC’s specialized laboratory for genetic testing and analysis. The HTC that ordered the test will then receive a report summarizing the genotyping results, which will be shared with patients and families to support individualized treatment and care.

Participants will also have the option to support scientific research by contributing their genotyping results and samples to a Research Sample and Data Repository under the stewardship of ATHN. In the future, scientists and researchers at academic institutions or companies will be able to apply for access to the data or samples through ATHN to support legitimate research projects. Participants’ names and other identifying information will not be provided to ATHN or to researchers, and the confidentiality of all participants will be strictly protected.

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Download the Role of Genotyping in Hemophilia Fact Sheet (pdf)