Embracing Genetic Diversity to Improve Black Health

Oni‐Orisan, Akinyemi; Mavura, Yusuph; Banda, Yambazi; Thornton, Timothy A.; Sebro, Ronnie

doi:10.1056/nejmms2031080

Cited by 84 publications

(66 citation statements)

References 37 publications

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“… 8 , 9 , 10 However, genetic ancestry data are not yet readily available for clinical practice or for use in clinical studies, nor have that data been historically captured. 11 The historical static groupings of individuals by race and ethnicity with regards to reported health data over time have led to the acceptance and use of these categories in biomedical research. 7 Stratification by various racial and ethnic groupings has identified several important differences in disease risk as well as response to certain treatments.…”

Section: Introductionmentioning

confidence: 99%

“… 7 Stratification by various racial and ethnic groupings has identified several important differences in disease risk as well as response to certain treatments. 11 In addition, the historical use of race and ethnicity as currently defined to differentiate patients in the study of disease has led to the emergence and recognition of medically underserved and underrepresented minority populations. 12 Thus, although imperfect, understanding disparities by racial and ethnic groupings is of value, particularly pertaining to the study of precision medicine, as it is important to understand from which populations we are collecting our biologic and biomarker data for use in the general cancer population.…”

Section: Introductionmentioning

confidence: 99%

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Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies

et al. 2021

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IMPORTANCE Precision oncology is revolutionizing cancer care, allowing for personalized treatments to improve outcomes. Cancer research has benefitted from well-designed studies incorporating precision medicine objectives, but it is unclear if these studies are representative of the diverse cancer population. OBJECTIVETo evaluate racial and ethnic representation in breast, prostate, lung, and colorectal cancer studies incorporating precision oncology objectives in the Clinicaltrials.gov registry and compare with the incidence of these cancer types in racial and ethnic minority groups in the US population. DESIGN, SETTING, AND PARTICIPANTSThis cross-sectional study identified US-based breast, prostate, lung, and colorectal cancer studies incorporating precision oncology objectives for reporting of race and ethnicity. The Surveillance, Epidemiology, and End Results and US Census databases were used to determine cancer incidence by race and ethnicity, linked with cancer type and median year of enrollment for each trial. Data were collected and analyzed between December 2020 and April 2021. MAIN OUTCOMES AND MEASURESThe expected number of participants per study by each racial and ethnic group was calculated based on the corresponding US-based proportion. Under-and overrepresentation was defined as the ratio of the actual number of enrolled cases to the expected number of cases for each trial by cancer type. Ratios above 1 indicated overrepresentation while a ratio below 1 indicated underrepresentation. Random-effects meta-analysis of representation ratios of individual trials was performed to weigh each individual study. RESULTSOf 93 studies encompassing 5867 enrollees with race and ethnicity data; 4826 participants (82.3%) were non-Hispanic White, 587 (10.0%) were Black, and 238 (4.1%) were Asian.Per observed-to-expected ratios, White participants were overrepresented in all studies, with a ratio of 1.35 (95% CI, 1.30-1.37), as well as Asian participants, with a ratio of 1.46 (95% CI, 1.28-1.66), while Black participants (ratio, 0.49; 95% CI, 0.45-0.54), Hispanic participants (ratio, 0.24; 95% CI, 0.20-0.28), and American Indian and Alaskan Native participants (ratio, 0.43; 95% CI, 0.24-0.78) were underrepresented. By individual cancer site, White participants were consistently overrepresented in all studies, while Black and Hispanic participants were underrepresented.CONCLUSIONS AND RELEVANCE This analysis found that precision oncology studies for breast, lung, prostate, and colorectal cancers vastly underrepresent racial and ethnic minority populations relative to their cancer incidence in the US population. It is imperative to increase diversity among enrollees so that all individuals may benefit from cancer research breakthroughs and personalized treatments.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies

et al. 2021

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“…However, none of the studies we examined performed genotyping or other computational methods to infer the study participants' genetic ancestry information. The use of the self-reported ancestry or race/ethnicity in TCR-seq studies may be considered to be reasonable at the current stage 11 . Second, the unified protocol of reporting study participants' REA information may introduce bias in our analysis.…”

Section: Discussionmentioning

confidence: 99%

Lack of diversity in T cell receptor sequencing studies

Huang¹,

Peng²,

Popejoy³

et al. 2021

Preprint

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Recent advancement from low-throughput sequencing techniques to high-throughput sequencing gives the public more efficient ways to acquire human adaptive immune receptor repertoire sequences (AIRR-seq). The advanced high-throughput sequencing techniques allow scientists to comprehensively examine and characterize the T cell receptors’ and B cell receptors’ genetic sequences efficiently. The development of multi-powerful platforms in AIRR-seq studies and advanced bioinformatic tools also boosts the AIRR community’s richness. However, although high-throughput sequencing technologies have been well-developed, most AIRR-seq studies have not taken ancestries or populations in their research into consideration. In the study, we investigate the ancestry distribution in the T cell receptor sequencing(TCR-seq) studies to initial estimate the ancestry distribution in the open AIRR-seq studies. The result disclosed that 84.08% of the studies with reported ancestries are conducted under European ancestries, which omit other populational ancestries’ diversity in the open TCR-Seq studies.

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“…Global human genetic diversity, including variation in clinically important pharmacogenes, has been shown to contribute to differential pharmacotherapeutic effects 9,10 . The full characterization of this worldwide diversity and its association with drug response phenotypes is important to all populations.…”

Section: Global Outreachmentioning

confidence: 99%

Advancing Precision Medicine Through the New Pharmacogenomics Global Research Network

Giacomini

Karnes

Crews

et al. 2021

Clin Pharma and Therapeutics

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The new Pharmacogenomics Global Research Network (PGRN) is an independent society that builds on the National Institutes of Health (NIH)-funded Pharmacogenomics Research Network that was established in 2000. Leveraging the original PGRN's previous success, the new network continues to be a leader in the field of personalized medicine focusing on research, discovery, and translation of genomic variation influencing drug efficacy and adverse events, while simultaneously increasing inclusion in the field and expanding globally.

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Embracing Genetic Diversity to Improve Black Health

Cited by 84 publications

References 37 publications

Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies

Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies

Lack of diversity in T cell receptor sequencing studies

Advancing Precision Medicine Through the New Pharmacogenomics Global Research Network

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