{"id":931,"date":"2019-11-21T12:43:12","date_gmt":"2019-11-21T17:43:12","guid":{"rendered":"https:\/\/nebula.org\/blog\/?p=931"},"modified":"2021-01-06T22:05:56","modified_gmt":"2021-01-07T03:05:56","slug":"increasing-diversity-in-genomic-research","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/increasing-diversity-in-genomic-research\/","title":{"rendered":"Increasing Diversity in Genomic Research"},"content":{"rendered":"\n

We live in an age of ever-increasing data. In just about every field imaginable, data is being generated at a mind-blowing pace. Luckily, this data isn\u2019t simply sitting around collecting dust, but instead, it\u2019s being mined for meaningful insights that can fuel progress across our society.
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This is particularly true in genomics as the technologies for sequencing genomes continue to advance. While sequencing the first genome cost billions of dollars, today a person can have their genome sequenced for only a few hundred dollars. Driving down the cost of sequencing has allowed the inclusion of more and more people, in turn accelerating the pace of genomic research. Yet genomic research also has a problem when it comes to its data \u2014 lack of diversity. 
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This problem is particularly apparent when considering where \u2014 or, more specifically, from whom \u2014 most genomic data comes from. While people of European ancestry make up less than 25% of the global population, they represent the lion\u2019s share of the participants in genetic research, specifically genome-wide association studies (or GWAS). This Euro-centric view also has its own diversity problem. From 2005 to 2018, just three countries contributed the majority of GWAS participants: the United States, the United Kingdom, and Iceland.<\/p>\n\n\n\n

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Figure 1. Representation of different ethnic groups in genomic datasets. From Morales et al.<\/em> A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog<\/a>. <\/figcaption><\/figure><\/div>\n\n\n\n

As a result, other ethnicities are vastly under-represented in genomic research. Asians, for example, account for 60% of the world\u2019s population but only 11% of GWAS participants. And other ethnicities, including African, African American, Latino populations, represent just 4% of GWAS participants.  
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This lack of diversity in genomic data is problematic. First and foremost, it reflects major disparities in how different ethnicities interact with \u2014 and benefit from \u2014 biomedical research. Sadly, such inequities are not new across medicine and science. 
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The Euro-centric nature of genomic data is alarming for another reason: it stifles discovery by undermining scientists\u2019 efforts to determine how genomic differences across populations contribute to health and disease. 
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While humans are remarkably similar at the genomic level \u2014 two unrelated individuals share about 99.9% of their DNA sequences \u2014 the small percentage that does differ can hold vital genetic clues about our traits and health, from hair color to the risk of Alzheimer\u2019s disease. 
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For example, sickle cell disease is a blood disorder that disproportionately affects people with African ancestry. It is caused by a mutation in a protein abundant in red blood cells. Similarly, cystic fibrosis, also caused by mutations in a single protein, is more common in European populations. Of course, these conditions can \u2014 and do \u2014 affect individuals from other parts of the world, too. 
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If scientists only study one group, they can miss important information that can influence the health of a large portion of the world\u2019s population \u2014 like why asthma-related deaths are four to five times higher in people of African, Puerto Rican, and Mexican descent. A recent study<\/a> discovered genetic variants in these populations that correspond with a decreased sensitivity to albuterol, a drug commonly found in inhalers, which could help explain the unusual severity of the disease in those populations.
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At the same time, researchers are likely missing discoveries that can help not just the particular group being studied, but everyone. Consider a brand-new class of cholesterol-lowering drugs known as PCSK9 inhibitors. These drugs were developed because of the finding<\/a> that a single, non-functional copy of the PCSK9 gene was associated with remarkably low levels of cholesterol \u2014 a finding that came from genomic studies of people with African ancestry.
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At Nebula, we are deeply committed to increasing the diversity of genomic data and helping to ensure that everyone benefits from the insights that flow from genomic research. In February 2020, we have achieved an important milestone by bringing the cost of personal genome sequencing below $300. Making whole-genome sequencing affordable can not only help you uncover the information within your genome but also ensure a more equitable future for genomic research \u2014 and human health. You can order our sequencing kit<\/a> today to begin your journey of learning more about your genes and the insights they can impart.<\/p>\n","protected":false},"excerpt":{"rendered":"

We live in an age of ever-increasing data. In just about every field imaginable, data is being generated at a mind-blowing pace. Luckily, this data isn\u2019t simply sitting around collecting dust, but instead, it\u2019s being mined for meaningful insights that …<\/p>\n

Increasing Diversity in Genomic Research<\/span> Read More \u00bb<\/a><\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[2350],"tags":[],"class_list":["post-931","post","type-post","status-publish","format-standard","hentry","category-science"],"yoast_head":"\nIncreasing Diversity in Genomic Research - Nebula Genomics Blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/nebula.org\/blog\/increasing-diversity-in-genomic-research\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Increasing Diversity in Genomic Research - Nebula Genomics Blog\" \/>\n<meta property=\"og:description\" content=\"We live in an age of ever-increasing data. 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