My Life, Our Future: Genotyping of Hemophilia Campaign Begins in Georgia
By Jeff Cornett RN, MSN, Director of Training, Research and Advocacy
If you are a person with hemophilia or the parent of one, you probably know that hemophilia is caused by a defect in the gene that tells the body how to make factor VIII or factor IX. This defect in the gene is called a mutation. A type of genetic testing, called genotyping, can identify the specific mutation (genotype) that causes an individual’s hemophilia. Some genotypes have been associated with more severe bleeding or a higher risk of inhibitors.
Because of the high cost and specialized laboratory needed to do genotyping, it has not been widely used until now. A new program called My Life, Our Future seeks to make genotyping available to everyone with hemophilia in the U.S. The program is a partnership between the American Thrombosis and Hemostasis Network (ATHN), the National Hemophilia Foundation (NHF), Puget Sound Blood Center, and Biogen Idec. Currently the program is available in Georgia at the Emory/Children’s Healthcare of Atlanta Hemophilia Treatment Center, with plans to expand to other HTCs in the future. It is open to people with hemophilia A or B and will eventually be offered to other family members to identify carriers of hemophilia.
When you visit the Emory HTC, you’ll be offered the opportunity to participate in this voluntary program. If you consent, a tube of blood will be drawn and sent to the Puget Sound Blood Center in Seattle, Washington. The Puget Sound laboratory is very experienced in genetic testing for hemophilia. A report of their analysis will be sent back to your hematologist at Emory so it can be discussed with you.
You’ll also be given the opportunity to help increase our understanding of hemophilia by allowing your results and blood to be stored by ATHN. Hemophilia researchers will be able to apply for access to the data and samples. It is hoped that combining data from many people with hemophilia will lead to a better understanding of the role of genetic mutations in the disorder. Neither your name nor any other identifying information is given to ATHN or the researchers.
You can find out more about My Life, Our Future by visiting the website, www.MyLifeOurFuture.org. There is also an easy to understand video about the program.