{"id":2101,"date":"2013-04-11T14:51:23","date_gmt":"2013-04-11T18:51:23","guid":{"rendered":"http:\/\/blogs.cdc.gov\/genomics\/?p=2101"},"modified":"2024-04-08T16:14:25","modified_gmt":"2024-04-08T20:14:25","slug":"walking-before-running","status":"publish","type":"post","link":"https:\/\/blogs.cdc.gov\/genomics\/2013\/04\/11\/walking-before-running\/","title":{"rendered":"Walking Before Running: Genomic Medicine 10 Years After the Human Genome Project"},"content":{"rendered":"

\"10<\/a>It has been said that the folks at the National Human Genome Research Institute (NHGRI)<\/a> never pass up the chance for well-deserved celebration \u2013 and I should know, I was one of them.\u00a0\u00a0Probably at least a few readers have noticed that the Human Genome Project (HGP) has celebrated a number of milestones and anniversaries over the years – and 2013 is no exception.\u00a0\u00a0 April 14, 2013 marks the 10th <\/sup>anniversary of the completion of the Human Genome Project, and as one might expect, NHGRI has a number of commemorative events planned.\u00a0\u00a0Though most individuals outside of the genomics research community think only of the most obvious output of the HGP \u2013 the actual linear sequence of A\u2019s, G\u2019s, C\u2019s and T\u2019s that make up the human blueprint , the project comprised much more than that.\u00a0\u00a0Additional components<\/a> included sequencing of several important model organisms, creation of maps of the human genome that have greatly facilitated the work of discovering mutations causal of disease, and development of technologies to make genomics research cheaper, faster, and more accurate.\u00a0 Reflecting on the last decade of progress in basic and biomedical research made possible by genomics<\/a>, it is not too difficult to conclude that the HGP was a great public investment in science made in the second half of the 20th<\/sup> century.<\/p>\n

The April 10 issue of the Journal of the American Medical Association<\/a> also celebrates the 10th<\/sup> anniversary of the completion of the HGP.\u00a0\u00a0The issue has a sampling of research studies that showcase the advances genomics is bringing to a diversity of areas of biomedicine, include cancer care, geriatric medicine, reproductive care, and microbiology.\u00a0 Additionally, there are a series of short pieces that explore aspects of genomics that are related to the implementation of genomics in clinical and public health arenas.\u00a0 The issue also contains an education-oriented article reviewing some of the currently available clinical molecular diagnostic tests in terms that a clinician not steeped in genomics can follow.<\/p>\n

Readers of this blog will probably find several of the original research articles relevant to the field of public health genomics.\u00a0For example, one of the articles identifies variants associated with long QT syndrome as the likely causal factor for at least some cases of unexplained intrauterine fetal demise.<\/a>\u00a0 If replicated in a larger population-based study, this could have implications for the provision of prenatal screening, and potentially provide some insights on a health problem of considerable importance at a population level.\u00a0Another article showcases the growing prowess of metagenomics for investigating infectious disease outbreaks through a retrospective dissection of the microbial genomics of the 2011 German toxigenic E. coli outbreak.<\/a>\u00a0 Not novel?\u00a0 Consider that it was achieved directly from fecal samples without an intermediate culture step to isolate the potentially causal organisms.\u00a0 The development of robust, open-ended, and culture-independent molecular diagnostics platforms for infectious disease could have a profound effect on clinical as well as public health laboratory practice.<\/p>\n

Those with an interest in health disparities will likely find the article on Alzheimer\u2019s disease of interest,<\/a> though not because it is yet another genome-wide association study (GWAS).\u00a0 Rather, because it is the largest GWAS study conducted to date for Alzheimer\u2019s in African Americans, a population that is notoriously understudied in most modern biomedical research.\u00a0\u00a0The findings, like most GWAS findings, are of little immediate clinical or public health use.\u00a0 However they hint at differences in the genetic architecture of Alzheimer\u2019s that may in part account for long observed epidemiologic differences between white and African American populations.<\/p>\n

Several of the opinion pieces in the JAMA theme issue touch on issues important to public health genomics, including the role of clinicians in guiding effective use of genomic test results, and the preparedness of health informatics infrastructure in the U.S. for genome scale data.\u00a0 However, the piece that is likely to be of the most interest is an article exploring the value of genomics to the health care system in the U.S. and abroad <\/a>.\u00a0 This article points out a variety of important conditions that must be met before health insurers, and the broader health care system, are likely to embrace genomic advances.\u00a0 As well the authors discuss the need to attend to the effects that very costly, yet potentially transformative new technologies might have on health across different population groups.<\/p>\n

Despite the considerable interest of this JAMA theme issue,\u00a0 I confess to being \u00a0somewhat dissatisfied.\u00a0 Undoubtedly, many of my clinical colleagues as well as those in the public health community will feel the same way.\u00a0 Absent are large prospective studies demonstrating dramatic improvements in morbidity and mortality, or substantial cost savings, arising from the ability to harness the genome to combat the top 10 causes of death in the population.\u00a0 However, all of us (myself included) should remember on this 10th<\/sup> anniversary after the end of the HGP, that we haven\u2019t<\/strong> harnessed the genome.\u00a0 In fact, we have really just begun to scratch the surface of understanding how the sequence of 6 billion base pairs leads to health and disease.\u00a0 Studies of clinical effectiveness, from both clinical and public health researchers, will come.\u00a0 In another few decades (yes, decades), I predict that we will be amazed at how much genomics\u00a0 has contributed to improving the health of individuals and populations.\u00a0 I would love very much to be there for that party.<\/p>\n","protected":false},"excerpt":{"rendered":"

It has been said that the folks at the National Human Genome Research Institute (NHGRI) never pass up the chance for well-deserved celebration \u2013 and I should know, I was one of them.\u00a0\u00a0Probably at least a few readers have noticed that the Human Genome Project (HGP) has celebrated a number of milestones and anniversaries over<\/p>\n","protected":false},"author":122,"featured_media":2108,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5236],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/2101"}],"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=2101"}],"version-history":[{"count":25,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/2101\/revisions"}],"predecessor-version":[{"id":5493,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/posts\/2101\/revisions\/5493"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/media\/2108"}],"wp:attachment":[{"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/media?parent=2101"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/categories?post=2101"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.cdc.gov\/genomics\/wp-json\/wp\/v2\/tags?post=2101"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}