{"644512":{"#nid":"644512","#data":{"type":"news","title":"Addressing the Need for Representation and Diversity \u2014 in Genetic Risk Assessments","body":[{"value":"\u003Cp\u003EWith the sequencing of the human genome, scientists say personalized medicine is a more realistic goal. A future of customized medications, better understanding about disease factors and individualized risks, and a deeper knowledge of how cell mutations result in diseases like cancer could help pave the way for healthier populations around the globe.\u003C\/p\u003E\r\n\r\n\u003Cp\u003EBut to realize this future, scientists need to build better risk assessments containing as much genetic information as possible regarding human populations \u0026mdash; without compromising security and privacy, and without marginalizing or overrepresenting any groups. To date, existing datasets of this type of information have largely focused on individuals of European ancestry \u0026mdash; which has meant that most people in the world have either been critically underrepresented, or at times not represented at all, among these important genomic studies and resources.\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003EMany groups are working together to improve those datasets, including\u0026nbsp;\u003Ca href=\u0022https:\/\/biosciences.gatech.edu\/\u0022\u003ESchool of Biological Sciences\u003C\/a\u003E\u0026nbsp;Patton Professor\u0026nbsp;\u003Ca href=\u0022https:\/\/biosciences.gatech.edu\/people\/gregory-gibson\u0022\u003EGreg Gibson\u003C\/a\u003E, who recently teamed up with Emory University School of Medicine\u0026rsquo;s\u0026nbsp;\u003Ca href=\u0022https:\/\/winshipcancer.emory.edu\/bios\/faculty\/kugathasan-subra.html\u0022\u003ESubra Kugathasan, M.D.\u003C\/a\u003E\u0026nbsp;and other colleagues to publish a new study based on what Gibson shares as the largest whole genome-sequencing study of inflammatory bowel disease for African-Americans to date.\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026ldquo;\u003Ca href=\u0022https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0002929721000434\u0022\u003EWhole-Genome Sequencing of African-Americans Implicates Differential Genetic Architecture in Inflammatory Bowel Disease\u003C\/a\u003E,\u0026rdquo; published February 17 in the American Journal for Human Genetics, researches inflammatory bowel disease (IBD) and Crohn\u0026rsquo;s disease in more than 3,000 Americans of African descent. IBD patients made up 1,774 members of the group, while the control group numbered 1,644 individuals without IBD.\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026ldquo;The huge concern in the field is that all minorities are dramatically underrepresented\u0026rdquo; in genetic studies, Gibson notes, underscoring the need for more diverse studies and highlighting his interest in pursuing the current study. \u0026ldquo;It\u0026rsquo;s comprehensive, it\u0026rsquo;s incredibly powerful and it way overperforms what came before, in terms of magnitude of accomplishment. We started three years ago, which I think is pretty amazing. There are still not many studies out there as large in terms of true genomic sequencing of population.\u0026rdquo;\u003C\/p\u003E\r\n\r\n\u003Cp\u003EThe group\u0026rsquo;s work hopes to build a better understanding of potential population divergence and genetic risk of specific complex diseases like IBD \u0026mdash; as well as identify any possible corresponding evolution of susceptibility and origins of health disparities.\u003C\/p\u003E\r\n\r\n\u003Cp\u003ETo achieve this, the research group set out to further resolve the genetic architecture of inflammatory bowel disease \u0026mdash; and also to better define the differential genetic structure of the disease across divergent ancestries. The team notes that their resulting analyses \u0026ldquo;include many alleles that were not previously examined, in a population that remains very significantly understudied.\u0026rdquo;\u003C\/p\u003E\r\n\r\n\u003Cp\u003ESo, what exactly is an allele?\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003EA brief tutorial on alleles and genomics\u003C\/strong\u003E\u003C\/p\u003E\r\n\r\n\u003Cp\u003EAlleles are alternative forms of a gene, and they\u0026rsquo;re born from mutations. \u0026ldquo;Every person\u0026rsquo;s genome has about a million out of a billion pairs that are different,\u0026rdquo; Gibson explains. These are polymorphisms, or alleles, which are \u0026ldquo;the flavor of a gene.\u0026rdquo; When a new mutation happens, its frequency is extremely rare, but some mutations do become more common over time, and contribute ever so subtly to disease.\u003C\/p\u003E\r\n\r\n\u003Cp\u003EMost of these alleles are shared by European and African-Americans, but small differences in frequency and effect can add up \u0026mdash; especially over several thousand of them \u0026mdash; to real differences in risk of disease progression.\u003C\/p\u003E\r\n\r\n\u003Cp\u003EGibson also highlights the importance of understanding and taking into account the many environmental factors that can be related to IBD and Crohn\u0026rsquo;s, such as stress, diet, access to quality nutrition, access to healthcare and preventative medicine, and even differences in socioeconomic status and opportunities that also tally up to significant health and risk disparities across divergent populations.\u0026nbsp;\u0026nbsp;\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003EMore diverse genomics assessments coming soon?\u003C\/strong\u003E\u003C\/p\u003E\r\n\r\n\u003Cp\u003EGibson and Kugathasan\u0026rsquo;s research was a collaborative study involving self-identified African-American subjects recruited from five primary sites across the country: Emory University (recruited as part of the Emory African-American Inflammatory Bowel Disease Consortium), Johns Hopkins\/Rutgers (recruited as part of the Multicenter African-American Inflammatory Bowel Disease Study), Cedars Sinai Medical Center, Mount Sinai Medical Center, and Washington University (recruited as part of the Centers for Common Disease Genomics network).\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003EThe study was approved by the institutional review boards at each of the participating sites and informed consent was obtained from all the participants. To protect privacy, de-identified datasets including genetic data were housed at Emory University with the approval of the local ethical board.\u003C\/p\u003E\r\n\r\n\u003Cp\u003EAll DNA samples investigated in the study (a total of 3,610 before quality control) were processed and sequenced at the Broad Institute of Harvard and the Massachusetts Institute of Technology following the same protocol.\u003C\/p\u003E\r\n\r\n\u003Cp\u003EMore of this needs to happen, Gibson notes, so that the real work on narrowing the gaps and differences in healthcare among a diverse spectrum of populations can begin. He adds that the African genetic structure requires complete gene sequencing for all sorts of technical reasons, making it harder than more studies of Europeans \u0026mdash; as well as essential and well worth the effort.\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026ldquo;If you try to predict the onset of disease and you don\u0026rsquo;t account for ancestry differences, your assessments are just way off. In any sort of medicine, you want to be as accurate as you can. That\u0026rsquo;s why it\u0026rsquo;s so critical to include diversity in genetic studies as we progress to equitable access of all health care in all populations.\u0026rdquo;\u003C\/p\u003E\r\n\r\n\u003Cp\u003EGibson says his next research study will deal with how genetics interacts with the other factors involved in health in underrepresented communities, such as nutrition and the impact of so-called \u0026ldquo;\u003Ca href=\u0022https:\/\/hypepotamus.com\/community\/startups-food-desert\/\u0022\u003Efood deserts\u003C\/a\u003E,\u0026rdquo; environmental issues, access to important health care, and other socio-economic indicators.\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026ldquo;It\u0026rsquo;s probably the most important paper I\u0026rsquo;ll ever work on,\u0026rdquo; he says.\u0026nbsp;\u003C\/p\u003E\r\n","summary":null,"format":"limited_html"}],"field_subtitle":[{"value":"School of Biological Sciences Patton Professor Greg Gibson joins Emory colleague in addressing the need for more diverse genetic risk assessments \u2014 conducting the largest genome sequencing yet for African-Americans with IBD and Crohn\u0027s disease."}],"field_summary":[{"value":"\u003Cp\u003EThe largest genome sequencing studies yet for African-Americans with Inflammatory bowel disease (IBD) and Crohn\u0026#39;s disease is being conducted by a School of Biological Sciences professor and his colleague at Emory \u0026mdash; but Greg Gibson says that more genetic risk assessments for underrepresented communities must be done to help deliver more equitable health care access and outcomes.\u003C\/p\u003E\r\n","format":"limited_html"}],"field_summary_sentence":[{"value":"School of Biological Sciences Patton Professor Greg Gibson joins Emory colleague in addressing the need for more diverse genetic risk assessments \u2014 conducting the largest genome sequencing yet for African-Americans with IBD and Crohn\u0027s disease."}],"uid":"34434","created_gmt":"2021-02-19 20:29:59","changed_gmt":"2021-02-22 18:26:14","author":"Renay San Miguel","boilerplate_text":"","field_publication":"","field_article_url":"","dateline":{"date":"2021-02-22T00:00:00-05:00","iso_date":"2021-02-22T00:00:00-05:00","tz":"America\/New_York"},"extras":[],"hg_media":{"644556":{"id":"644556","type":"image","title":"A high magnification micrograph of \u0022cryptitis\u0022 in a case of Crohn\u0027s disease, colorized with an H\u0026E stain and enhanced with post-processing. 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