{"id":6063,"date":"2022-03-29T12:30:32","date_gmt":"2022-03-29T16:30:32","guid":{"rendered":"https:\/\/blogs.cdc.gov\/genomics\/?p=6063"},"modified":"2024-04-09T18:27:36","modified_gmt":"2024-04-09T22:27:36","slug":"precision-public-health-5","status":"publish","type":"post","link":"https:\/\/blogs.cdc.gov\/genomics\/2022\/03\/29\/precision-public-health-5\/","title":{"rendered":"Precision Public Health in Action: Enhancing models to predict risk of adverse treatment outcomes in people with hemophilia"},"content":{"rendered":"

\"hemophilia<\/a>In collaboration with the CDC\u00a0Office of Advanced Molecular Detection<\/a>, the Office of Genomics and Precision Public Health<\/a> recently funded the National Center on Birth Defects and Developmental Disabilities<\/a> (NCBDDD)\u00a0to strengthen public health capacity by introducing elements of human genomics into applied research on predicting inhibitor risk in people with hemophilia.<\/p>\n

Hemophilia<\/a> refers to a group of inherited bleeding disorders in which the blood does not clot properly because of a deficiency or dysfunction in one of two clotting factor proteins, factor VIII (8) or factor IX (9).\u00a0 Along with other clotting factors and platelets, both factor VIII and factor IX are necessary to help the body stop bleeding when an injury occurs. An estimated 33,000 males in the United States are living with hemophilia. Many females are also known to be living with hemophilia, although many others are likely not identified.\u00a0 The condition tends to be less severe in females because of the way that hemophilia is inherited<\/a>.<\/p>\n

Hemophilia is often treated by replacing the deficient clotting factor protein.\u00a0 About 15-20 percent of people with hemophilia develop an antibody (called an inhibitor<\/a>) that stops the replacement clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. Being able to identify people with hemophilia at risk of developing inhibitors is important, as knowledge of inhibitor risk may help guide treatment decisions.<\/p>\n

Investigators in NCBDDD\u2019s Division of Blood Disorders<\/a> will be building on previous research to develop tools to identify people with hemophilia who are most likely to develop inhibitors.<\/p>\n

Several regions throughout the human genome have been identified as potentially playing a role in inhibitor development, including the genetic variant in the clotting factor gene that causes a person\u2019s hemophilia, the human leukocyte antigen (HLA<\/em>) region, and other genes known to be important in the body\u2019s immune response (e.g., IL-10<\/em>, TNFA<\/em>, IL1A<\/em>, IL12B<\/em>, and CD80<\/em>).\u00a0 Investigators in the Division of Blood Disorders have used this information to develop a genetic inhibitor risk prediction tool<\/a> (pages 537-538 in the linked document) that is based on information about the genetic variant causing a person\u2019s hemophilia, genetic variation in the HLA<\/em> region of a person\u2019s genome, and genetic variation in a person\u2019s immune response genes.\u00a0 However, this tool has thus far been evaluated in a relatively small number of people with hemophilia.<\/p>\n

In this newly funded project, investigators will evaluate the performance of the existing inhibitor risk prediction tool in a diverse patient population. Previous studies of the prediction tool were conducted in populations of non-Hispanic, White persons with hemophilia.\u00a0 In contrast, the new study\u2019s patient population is diverse in age, geographical location, race, and ethnicity.\u00a0 The findings from this study will broaden our knowledge of how the inhibitor risk prediction tool performs in the wider population of persons with hemophilia and will improve health equity related to inhibitor risk prediction.<\/p>\n","protected":false},"excerpt":{"rendered":"

In collaboration with the CDC\u00a0Office of Advanced Molecular Detection, the Office of Genomics and Precision Public Health recently funded the National Center on Birth Defects and Developmental Disabilities (NCBDDD)\u00a0to strengthen public health capacity by introducing elements of human genomics into applied research on predicting inhibitor risk in people with hemophilia. Hemophilia refers to a group<\/p>\n","protected":false},"author":122,"featured_media":6065,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5236,31884],"tags":[60218],"_links":{"self":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/6063"}],"collection":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/comments?post=6063"}],"version-history":[{"count":2,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/6063\/revisions"}],"predecessor-version":[{"id":6066,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/6063\/revisions\/6066"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/media\/6065"}],"wp:attachment":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/media?parent=6063"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/categories?post=6063"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/tags?post=6063"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}