Taking race out of human genetics

Yudell, Michael; Roberts, Dorothy E.; DeSalle, Rob; Tishkoff, Sarah A.

doi:10.1126/science.aac4951

Cited by 527 publications

(365 citation statements)

References 14 publications

Supporting

Mentioning

361

Contrasting

Unclassified

Order By: Relevance

“…Race is a societal construct that is often an inadequate proxy for a study participant's genetics. [20][21][22] While diverse research cohorts have elucidated differences in human leukocyte antigen-typing that mediate Stevens-Johnson syndrome, 23 genetic variation in response to antiretroviral medication, 24 and variability in prevalence of drugtargeted tumor markers, 25 these findings were ultimately based on the genetic diversity of a racially and ethnically diverse study cohort. Racial and perhaps to a greater extent, ethnic diversity in research will continue to be critical for ensuring all individuals have access to new treatment.…”

Section: Figure 1 Systematic Review Methods Section Flowchartmentioning

confidence: 99%

Diversity in Dermatology Clinical Trials

et al. 2017

View full text Add to dashboard Cite

he growth of the minority population in the United States is outpacing the growth of the non-Hispanic white population. Current projections estimate that the United States will achieve "majority-minority" status in which minority populations total over 50% of the overall population by 2044. 1 This demographic shift has not been reflected in medical research. African Americans, Hispanic individuals, and women are underrepresented in clinical 2 and randomized controlled trials generally, 3 as well as within specific subspecialties including cancer clinical trials, 4 pulmonary research, 5 vascular surgery trials, 6 and orthopedic research. 7 General reporting of the racial and ethnic demographics of study cohorts is uncommon as well, with less than one-third of papers published in high-impact journals across all fields reporting racial or ethnic demographics. 8 Federal efforts have targeted inclusion of clinical trial and research subjects at levels proportionate with those in the US population. 9 The US Food and Drug Administration (FDA) currently requires that all investigational new drug and new drug applications studies include demographic information prior to approval. 10 Additionally, National Institutes of Health (NIH)funded clinical research studies must include women and minorities. 11 Despite a call to action to achieve diversity in research, that we know of there has been no systematic evaluation of clinical and research diversity among dermatology research subjects to date. Hirano et al 12 examined racial representation in atopic dermatitis research, demonstrating that only 60% of clinical trials of eczema and/or atopic dermatitis reported race.This systematic review of the dermatology literature analyzed the degree of racial, ethnic, and sex representation in recent randomized clinical trials (RCTs) for acne, psoriasis, atopic dermatitis and eczema, vitiligo, alopecia areata, seborrheic dermatitis, and lichen planus (LP). These conditions were selected because they are: IMPORTANCE Though there have been significant shifts in US demographic data over the past 50 years, research cohorts lack full racial and ethnic representation. There is little data available regarding the diversity of dermatology research cohorts with respect to sex, race, and ethnicity.OBJECTIVE To characterize and assess the representation of racial and ethnic minorities and women in randomized controlled trials across a range of dermatologic conditions.EVIDENCE REVIEW All randomized clinical trials (RCTs) were identified between July 2010 and July 2015 within the PubMed database using the following keywords: "psoriasis," "atopic dermatitis," "acne," "vitiligo," "seborrheic dermatitis," "alopecia areata," and "lichen planus." Diverse study populations were defined as including a greater than 20% racial or ethnic minority participants based on US census data. The distributions of sex and race groups in studies were compared by journal type, disease type, and funding source.FINDINGS Of the 626 articles reporting RCTs included in this ...

show abstract

Section: Figure 1 Systematic Review Methods Section Flowchartmentioning

confidence: 99%

Diversity in Dermatology Clinical Trials

et al. 2017

View full text Add to dashboard Cite

show abstract

“…2014; Yudell et al. 2016). It has been suggested that human genetic diversity follows in part from different selection pressures of divergent geographies and social structures (Wade 2015).…”

Section: Introductionmentioning

confidence: 99%

Bridging two scholarly islands enriches both: COI DNA barcodes for species identification versus human mitochondrial variation for the study of migrations and pathologies

Thaler

Stoeckle

2016

Ecology and Evolution

View full text Add to dashboard Cite

DNA barcodes for species identification and the analysis of human mitochondrial variation have developed as independent fields even though both are based on sequences from animal mitochondria. This study finds questions within each field that can be addressed by reference to the other. DNA barcodes are based on a 648‐bp segment of the mitochondrially encoded cytochrome oxidase I. From most species, this segment is the only sequence available. It is impossible to know whether it fairly represents overall mitochondrial variation. For modern humans, the entire mitochondrial genome is available from thousands of healthy individuals. SNPs in the human mitochondrial genome are evenly distributed across all protein‐encoding regions arguing that COI DNA barcode is representative. Barcode variation among related species is largely based on synonymous codons. Data on human mitochondrial variation support the interpretation that most – possibly all – synonymous substitutions in mitochondria are selectively neutral. DNA barcodes confirm reports of a low variance in modern humans compared to nonhuman primates. In addition, DNA barcodes allow the comparison of modern human variance to many other extant animal species. Birds are a well‐curated group in which DNA barcodes are coupled with census and geographic data. Putting modern human variation in the context of intraspecies variation among birds shows humans to be a single breeding population of average variance.

show abstract

“…Racial inferiority [is] a part of the ether of Western society.” With this history in mind, we were cautious about studying a genetic variant that makes those of African ancestry more likely to develop kidney disease than Whites. Some scientists have suggested that racial terminology be phased out of genetics, 12 because racial/ethnic categories are social constructs, which may complicate and potentially confound research while engaging a long and problematic history of race-based and eugenics research. Although the board also views race as a social construct, we recognize that ancestry has biological/genetic components that may—as in the case of APOL1—significantly impact an individual’s susceptibility to certain diseases.…”

Section: Methodsmentioning

confidence: 99%

A Culture of Understanding: Reflections and Suggestions from a Genomics Research Community Board

Kaplan¹,

Caddle-Steele²,

Chisholm³

et al. 2017

Progress in Community Health Partnerships

View full text Add to dashboard Cite

There has been limited community engagement in the burgeoning field of genomics research. In the wake of a new discovery of genetic variants that increase the risk of kidney failure and are almost unique to people of African ancestry, community and clinical leaders in Harlem, New York, formed a community board to inform the direction of related research. The board advised all aspects of a study to assess the impact of testing for these genetic variants at primary care sites that serve diverse populations, including explaining genetic risk to participants. By reflecting on the board’s experiences, we found that community voices can have tangible impact on research that navigates the controversial intersection of race, ancestry, and genomics by heightening vigilance, fostering clear communication between researchers and the community, and encouraging researchers to cede some control. Our reflections and work provide a strong justification for longitudinal community partnerships in genomics research.

show abstract

Taking race out of human genetics

Abstract: Engaging a century-long debate about the role of race in science

Cited by 527 publications

References 14 publications

Diversity in Dermatology Clinical Trials

Diversity in Dermatology Clinical Trials

Bridging two scholarly islands enriches both: COI DNA barcodes for species identification versus human mitochondrial variation for the study of migrations and pathologies

A Culture of Understanding: Reflections and Suggestions from a Genomics Research Community Board

Contact Info

Product

Resources

About