{"id":1591,"date":"2012-09-27T12:03:32","date_gmt":"2012-09-27T16:03:32","guid":{"rendered":"http:\/\/blogs.cdc.gov\/genomics\/?p=1591"},"modified":"2024-04-08T16:08:10","modified_gmt":"2024-04-08T20:08:10","slug":"evidence-matters-in-genomic-medicine-round-3","status":"publish","type":"post","link":"https:\/\/blogs.cdc.gov\/genomics\/2012\/09\/27\/evidence-matters-in-genomic-medicine-round-3\/","title":{"rendered":"Evidence Matters in Genomic Medicine\u2014Round 3:  Integrating Family Health History into Clinical Preventive Services"},"content":{"rendered":"<p><a href=\"https:\/\/blogs.cdc.gov\/genomics\/files\/2012\/09\/stacked_boxes_ped1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignright size-medium wp-image-1649\" src=\"https:\/\/blogs.cdc.gov\/genomics\/files\/2012\/09\/stacked_boxes_ped1-300x174.jpg\" alt=\"stacked boxes with pedigree\" width=\"300\" height=\"174\" srcset=\"https:\/\/blogs.cdc.gov\/genomics\/wp-content\/uploads\/sites\/20\/2012\/09\/stacked_boxes_ped1-300x174.jpg 300w, https:\/\/blogs.cdc.gov\/genomics\/wp-content\/uploads\/sites\/20\/2012\/09\/stacked_boxes_ped1.jpg 987w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/a>A new podcast from the CDC Expert Commentary Series on Medscape\u2014<a href=\"https:\/\/www.medscape.com\/viewarticle\/771164\" target=\"_blank\" rel=\"noopener noreferrer\">Family Health History: Use It to Inform Preventive Services for Your Patients<\/a>\u2014 describes how family health history can inform the delivery of preventive health services. \u00a0\u00a0The podcast presents three case studies based on recommendations of the US Preventive Services Task Force (USPSTF): \u00a0screening for lipid disorders in adults, colorectal cancer screening, and <em>BRCA<\/em> genetic counseling and evaluation.\u00a0 Each case study demonstrates how family health history can be used to define a population subgroup whose increased risk could warrant more intensive preventive intervention.\u00a0 Family health history\u2014which reflects the effects of genetic and environmental risk factors <a href=\"https:\/\/www.cdc.gov\/genomics\/famhistory\/index.htm\" target=\"_blank\" rel=\"noopener noreferrer\">shared within families<\/a>\u2014has been called the \u201c<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/22237427\/\" target=\"_blank\" rel=\"noopener noreferrer\">first genetic test<\/a>.\u201d<!--more--><\/p>\n<p><a href=\"https:\/\/www.cdc.gov\/genomics\/\" target=\"_blank\" rel=\"noopener noreferrer\">CDC\u2019s Office of Public Health Genomics<\/a> recently announced a <a href=\"https:\/\/phgkb.cdc.gov\/PHGKB\/tierStartPage.action\" target=\"_blank\" rel=\"noopener noreferrer\">list<\/a> of health-related genomic tests and applications, stratified into <a href=\"https:\/\/blogs.cdc.gov\/genomics\/2012\/05\/03\/genomic-tests-and-population-health\/\" target=\"_blank\" rel=\"noopener noreferrer\">three tiers<\/a> according to the availability of scientific evidence and <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/21406285\/\" target=\"_blank\" rel=\"noopener noreferrer\">evidence-based recommendations<\/a> . <strong>Tier 1<\/strong> applications have evidence establishing validity and utility, and their use is supported by evidence-based recommendations; <strong>tier 2<\/strong> applications have evidence establishing validity and promising utility, and may be useful for informed decision making, but lack evidence-based recommendations for their use; and <strong>tier 3<\/strong> applications have inadequate evidence of validity and\/or utility, or have evidence-based recommendations against their use. This list was recently expanded to incorporate a broader array of recommendations on <a href=\"https:\/\/blogs.cdc.gov\/genomics\/2012\/08\/23\/evidence-matters-in-genomic-medicine-round-2\/\" target=\"_blank\" rel=\"noopener noreferrer\">cancer genomic tests<\/a>.<\/p>\n<p>Now we update the list to include 17 USPSTF recommendations that take family health history into account in guiding the delivery of preventive services.\u00a0 To <strong>tier 1<\/strong>, we have added three USPSTF A and B recommendations that are explicitly based on family health history:\u00a0 screening for lipid disorders in adults, screening for osteoporosis, and chemoprevention of breast cancer.\u00a0 We have also added to <strong>tier 1<\/strong> two recommendations for genetic services when there is a known genetic mutation in the family: screening for hemochromatosis and <em>BRCA<\/em> genetic counseling and evaluation.<\/p>\n<p>We have added to <strong>tier 2<\/strong> four USPSTF A and B recommendations and nine USPSTF <a href=\"http:\/\/www.uspreventiveservicestaskforce.org\/uspstf\/grades.htm\" target=\"_blank\" rel=\"noopener noreferrer\">I<\/a> (insufficient evidence) recommendations that explicitly include family health history as a \u201cclinical consideration\u201d when offering the service. \u00a0<strong>Tier 3<\/strong> now includes two USPSTF D recommendations that explicitly recommend against routine genetic services in the general population: <a href=\"http:\/\/www.uspreventiveservicestaskforce.org\/uspstf\/uspshemoch.htm\" target=\"_blank\" rel=\"noopener noreferrer\">screening for hemochromatosis<\/a> and <a href=\"http:\/\/www.uspreventiveservicestaskforce.org\/uspstf\/uspsbrgen.htm\" target=\"_blank\" rel=\"noopener noreferrer\"><em>BRCA<\/em> genetic counseling and evaluation<\/a>.\u00a0 Multiple entries on the list for a single genetic testing application, such as <em>BRCA<\/em> genetic counseling and evaluation, are not surprising since each application can be considered for multiple indications and in different target populations.<\/p>\n<p>So far, we have considered only recommendations or guidelines from USPSTF. <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22176849\" target=\"_blank\" rel=\"noopener noreferrer\">Increased risk family health history criteria vary considerably among guidelines<\/a>, making efforts to compare and harmonize them very challenging.<\/p>\n<p>The vast majority of the USPSTF recommendations that take family history into account map to tier 2, indicating that there are important gaps in the data needed to support use of family health history to guide preventive services.\u00a0 Indeed, a 2009 <a href=\"http:\/\/consensus.nih.gov\/2009\/familyhistory.htm\" target=\"_blank\" rel=\"noopener noreferrer\">NIH state-of-the-science conference<\/a> on family history and improving health found the evidence supporting the systematic collection of family health history in primary care to be very limited.\u00a0 The recent addition of family health history to the national standards for <a href=\"http:\/\/www.healthit.gov\/policy-researchers-implementers\/meaningful-use\" target=\"_blank\" rel=\"noopener noreferrer\">\u201cmeaningful use\u201d of electronic health records<\/a> is an important first step which could help to address these gaps by allowing improved monitoring of the use and impact of family health history in practice.<\/p>\n<p>The growing list of tier 1 applications underscores the role of public health to support effective implementation of evidence-based genomic testing and family history recommendations to realize population health impact.\u00a0 Common approaches, such as promoting the collection of structured family health history information through educational interventions, facilitating the identification of at-risk family members through policy approaches, and monitoring awareness and use of evidence-based recommendations through surveillance and surveys, could apply across multiple recommendations to maximize resources.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A new podcast from the CDC Expert Commentary Series on Medscape\u2014Family Health History: Use It to Inform Preventive Services for Your Patients\u2014 describes how family health history can inform the delivery of preventive health services. \u00a0\u00a0The podcast presents three case studies based on recommendations of the US Preventive Services Task Force (USPSTF): \u00a0screening for lipid<\/p>\n","protected":false},"author":125,"featured_media":1649,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5761,5740,5236],"tags":[31858,5739,5726,31856,15969],"_links":{"self":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/1591"}],"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\/125"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/comments?post=1591"}],"version-history":[{"count":40,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/1591\/revisions"}],"predecessor-version":[{"id":5469,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/1591\/revisions\/5469"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/media\/1649"}],"wp:attachment":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/media?parent=1591"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/categories?post=1591"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/tags?post=1591"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}