Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce. Increased attention to diversity will increase the accuracy, utility and acceptability of using genomic information for clinical care.

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Precision medicine is predicted to revolutionize the clinical practice of medicine, in part by using molecular biomarkers to assess patients' risk, prognosis, and therapeutic response more precisely. However, reliance on biomarkers could present challenges for diverse populations that are not equitably represented in precision medicine research. We examined the populations included in genomic studies whose data were available in the following two public databases: the Genome-Wide Association Study Catalog and the database of Genotypes and Phenotypes. We found significantly fewer studies of African, Latin American, and Asian ancestral populations in comparison to European populations. These patterns were consistent across both data types and disease areas. While the number of genomic research studies that include non-European populations is modestly improving, the overall numbers are still low, and decisive action is needed now to implement the changes necessary for realizing the promise of precision medicine for all.

Patient with Sickle Cell Disease, Focus Group Participant I and to cut down on the pain.. .. And help me out.' Pain in the United States is widely recognized to be undertreated; however, the capacity to treat pain has never been greater.2 The causes of this undertreatment are varied. As we focus on pain and why it is too often ineffectively treated, we also discover that this undertreatment afflicts some more than others. What divides the some from the others isn't limited to one factor, but one particularly disturbing factor is race and ethnicity. Racial and ethnic minority populations are at higher risk for oligoanalgesia, or the ineffective treatment of pain. Only through further study of the differences in pain treatment based on race and ethnicity can we develop strategies to reduce the disparities in care. Racial and ethnic disparities in health care in the United States have received greater focus in the last ten years than any time in our history. Numerous studies have revealed that racial and ethnic minority groups often receive different and less optimal management of their health care than white Americans. Research studies have identified inequalities in the treatment of black Americans for early stage lung can-~e r ,~ ischemic heart disease: and access to invasive cardiac procedures' as well as cadaveric renal transplantations.6 Studies have shown that a patient's race has a substantial effect on the treatment provided and the mortality rates among Medicare beneficiaries' and veterans.*

Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public’s understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research Institute to examine the challenge of achieving genomic literacy for the general public, from K-12 to adult education. The role of the media in disseminating scientific messages and in perpetuating, or reducing, misconceptions was also discussed. Workshop participants agreed that genomic literacy will only be achieved through active engagement between genomics experts and the varied constituencies that comprise the public. This report summarizes the background, content, and outcomes from this meeting, including recommendations for a research agenda to inform decisions about how to advance genomic literacy in our society.

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Background: Although sickle cell trait (SCT) is largely a benign carrier state, it may increase risk for certain clinical outcomes. Purpose: To evaluate associations between SCT and clinical outcomes in children and adults. Data Sources: English-language searches of PubMed, CINAHL, the Cochrane Library, Current Contents Connect, Scopus, and Embase (1 January 1970 to 30 June 2018) and bibliographies of review articles. Study Selection: Observational controlled studies (published in English) in children or adults that examined an association between SCT and any of 24 clinical outcomes specified a priori in the following 6 categories: exertion-related injury; renal, vascular, pediatric, and surgery- or trauma-related out- comes; and overall mortality. Data Extraction: A single reviewer extracted study data, which was checked by another; 2 reviewers independently assessed study quality; and strength of evidence was assessed by consensus. Data Synthesis: Of 7083 screened studies, 41 met inclusion criteria. High-strength evidence supported a positive association between SCT and risk for pulmonary embolism, proteinuria, and chronic kidney disease. Moderate-strength evidence supported a positive association between SCT and exertional rhabdomyolysis and a null association between SCT and deep venous thrombosis, heart failure or cardiomyopathy, stroke, and pediatric height or weight. Absolute risks for thromboembolism and rhabdomyolysis were small. For the remaining 15 clinical outcomes, data were insufficient or strength of evidence was low. Limitation: Publication bias was possible, and high-quality evidence was scant. Conclusion: Sickle cell trait is a risk factor for a few adverse health outcomes, such as pulmonary embolism, kidney disease, and exertional rhabdomyolysis, but does not seem to be associated with such complications as heart failure and stroke. Insufficient data or low-strength evidence exists for most speculated complications of SCT.

Aim Genomics has the potential to improve personalized healthcare. Nurses are vital to the utilization of genomics in practice. This study assessed nursing attitudes, receptivity, confidence, competency, knowledge and practice in genomics to inform education efforts. Materials & methods Cross-sectional study of registered nurses who completed an online Genetic/Genomic Nursing Practice Survey posted on a national nursing organization website. Results A total of 619 registered nurses participated. The largest proportion of education level were nurses with a baccalaureate degree (39%). Most (67.5%) considered genomics very important to nursing practice. However, 57% reported their genomic knowledge base to be poor or fair. The mean total knowledge score correct response rate was 75%. Yet 60% incorrectly answered that diabetes and heart disease are caused by a single gene variant. Most (64%) had never heard of the Essential Nursing Competencies and Curricula Guidelines in Genomics. Higher academic education or post licensure genetic education increased family history collection in practice. Conclusion Most nurses are inadequately prepared to translate genomic information into personalized healthcare. Targeted genomic education is needed to assure optimal workforce preparation for genomics practice integration.