A Spotlight on Diversity in Precision Medicine Research and Call for Manuscripts

The consensus is clear:  there is a need for diversity in precision medicine research.  Most of the current dialogue on diversity centers on study populations.  Genome-wide association studies (GWAS), which began in earnest in 2007 with publication of the landmark Wellcome Trust Case Control Consortium study of seven common diseases (PMIC2719288) and a trio of type 2 diabetes studies (PMC3214617, PMC3772310, and PMID17463246), focused almost exclusively on populations of European-descent.  The GWAS that immediately followed mostly repeated this population pattern.

The importance of diversity, limited here to race/ethnicity and genetic ancestry, in study populations has long been recognized by genomicists and clinicians alike.  Even before the sequencing of the human genome, genetic anthropologist L. Lucas Cavalli-Sforza and colleagues recognized the importance of sampling variation from many populations (PMC1683673) and called for a Human Genome Diversity Project in the early 1990s (PMID1769670 and PMID155803201).  The International HapMap Project (PMC1880871 and PMC2689609) and other efforts (PMID16124863) to catalog human genetic variation and linkage disequilibrium, which included multiple populations, were natural extensions of the Human Genome Project and necessary steps in the evolution of genomic resources necessary for GWAS that now include the 1000 Genomes Project (PMC4750478 and PMC4617611) and the Exome Aggregation Consortium (PMC5018207).

On the clinical or biomedical side, the use and importance of race/ethnicity in research was (PMID12646675) and continues to be controversial (PMID26912690).  The labels used to describe race/ethnicity are social constructs, not scientific terms rooted in biology, and there is a long history of misuse and confusion (PMID10655044 and PMID1243037) surrounding these labels.  Still, there are legitimate arguments for the usefulness of these labels in biomedical research (PMID12646676), leading some prominent journals to call for their careful use in the biomedical research literature (PMID12771118).

The importance of diversity in basic and biomedical research was clearly recognized long before GWAS, so why is the research community still discussing this and discussing it ever so loudly?  Arguably, it was the creation (PMC2687147) of an on-line GWAS catalog (https://www.ebi.ac.uk/gwas/) that facilitated analyses clearly showing not just a disparity in which populations were included in GWAS but also the magnitude (PMID21753830).  Updated analyses demonstrate that the situation has not improved much, particularly for Blacks or African Americans and American Indians (PMID27734877).  The lack of progress coupled with recent reports of misdiagnoses related to a dearth of basic frequency data in non-European populations (PMID27532831) has led to an urgent call for action from investigators and funders alike (PMID29151588).  As a result, major new research initiatives such as the Precision Medicine Initiative Cohort Program or All of Us aim to recruit participants from diverse groups (PMID25635347 and PMID2722314).

The North Coast Conference on Precision Medicine series at Case Western Reserve University (CWRU) fully embraces this call and aims to highlight pressing and emerging issues in precision medicine research with an emphasis on diversity.  Established in 2015, the conference series has featured local and national speakers presenting topics ranging from statistical considerations when working with ancestrally diverse data to pharmacogenomics and African Americans to biobanks in the Caribbean islands.  The upcoming 2018 conference promises to feature speakers presenting work related to the return of genomic results, and confirmed speakers’ topics range from barrier to delivery of results through the internet to special considerations for American Indian populations.

New to this conference series is a call for manuscripts for topics related to diversity in precision medicine research, including diversity in the biomedical workforce (of which deserves its own blog post).  The call for manuscripts is in response to a Frontiers in Genetics Research Topic, organized by Dr. Dana Crawford, specialty chief-editor for the Applied Genetic Epidemiology section, along with Drs. William Bush and Jessica Cooke Bailey of CWRU.  Abstracts and inquiries are due June 1, 2018, and manuscripts are due October 1, 2018.  All manuscripts will be peer-reviewed prior to consideration for publication.  We anticipate that this Research Topic will further the discussion of diversity in precision medicine and help to both advance and sustain the current call for the necessary action to ensure that precision medicine is truly for all.

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Dana Crawford

Professor of Population and Quantitative Health Sciences and Associate Director of the Cleveland Institute for Computational Biology, with interest in pharmacogenomics, electronic health records, and diverse populations. Also, an avid foodie!

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