Diversified innovations in the health sciences: Proposal for a Diversity Minimal Item Set (DiMIS)

Sustainable Chemistry and Pharmacy, Journal Year: 2023, Volume and Issue: 33, P. 101072 - 101072

Published: April 21, 2023

Language: Английский

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Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry

JAMA, Journal Year: 2023, Volume and Issue: 330(5), P. 432 - 432

Published: Aug. 1, 2023

Importance Black patients with dilated cardiomyopathy (DCM) have increased familial risk and worse outcomes than White patients, but most DCM genetic data are from patients. Objective To compare the rare variant architecture of by genomic ancestry within a diverse population DCM. Design Cross-sectional study enrolling who self-identified as non-Hispanic Black, Hispanic, or June 7, 2016, to March 15, 2020, at 25 US advanced heart failure programs. Variants in 36 genes were adjudicated pathogenic, likely uncertain significance. Exposure Presence Main Outcomes Measures classified pathogenic/likely pathogenic/uncertain significance clinically actionable (pathogenic/likely pathogenic). Results A total 505, 667, 26 predominantly African, European, Native American ancestry, respectively, included. Compared European lower percentage African had variants (8.2% [95% CI, 5.2%-11.1%] vs 25.5% 21.3%-29.6%]), reflecting odds for those any pathogenic variant/likely variant/variant (odds ratio, 0.25 0.17-0.37]). On average, fewer TTN (difference, −0.09 −0.14 −0.05]) other predicted loss function disease-causing mechanism −0.06 −0.11 −0.02]). However, number variants/likely variants/variants was more comparable between groups −0.07 −0.22 0.09]) due larger non- non–predicted significance, mostly missense, 0.15 0.00-0.30]). Published clinical case-based evidence supporting pathogenicity less available found only ( P < .001). Conclusion Relevance Patients differences lack representation sets.

Language: Английский

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Ancestry: How researchers use it and what they mean by it

Frontiers in Genetics, Journal Year: 2023, Volume and Issue: 14

Published: Jan. 23, 2023

Background: Ancestry is often viewed as a more objective and less objectionable population descriptor than race or ethnicity. Perhaps reflecting this, usage of the term "ancestry" rapidly growing in genetics research, with ancestry groups referenced many situations. The appropriate descriptors research an ongoing source debate. Sound normative guidance should rest on empirical understanding current usage; case ancestry, questions about how researchers use concept, what they mean by it, remain unanswered. Methods: Systematic literature analysis 205 articles at least tangentially related to human health from diverse disciplines that concept semi-structured interviews 44 lead authors some those articles. Results: relied structure key methodological approaches. Yet struggle define and/or offer definitions. For genetic but for many-including geneticists-ancestry only genetics. interviewees, explicitly equated ethnicity; others it distanced it. operationalized using multiple data types (including variation self-reported identities), though large fraction (26%) impossible tell which were used. Across there no consistent relates concepts structure), nor these relate each other. Beyond this conceptual confusion, practices summarizing patterns uninterrogated conventions. Continental labels are far most common type label applied groups. We observed instances slippage between reference racial Conclusion: practice highly ambiguous counterpart It not uniquely "biological" construct, does represent "safe haven" seeking avoid evoking ethnicity their work. Distinguishing broadly will be necessary part providing clarity.

Language: Английский

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Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study

Circulation, Journal Year: 2023, Volume and Issue: 148(11), P. 872 - 881

Published: Aug. 29, 2023

BACKGROUND: Dilated cardiomyopathy (DCM) can lead to advanced disease, defined herein as necessitating a durable left ventricular assist device or heart transplant (LVAD/HT). DCM is known have genetic basis, but the association of rare variant genetics with has not been studied. METHODS: We analyzed clinical and sequence data from patients enrolled between 2016 2021 in US multisite Precision Medicine Study, which was geographically diverse, multiracial, multiethnic cohort. Clinical evaluation included standardized patient interview medical record query forms. severity classified into 3 groups: disease LVAD/HT; an implantable cardioverter defibrillator (ICD) only; no ICD LVAD/HT. Rare variants 36 genes were pathogenic likely uncertain significance. Confounding factors we considered demographic characteristics, lifestyle factors, access care, duration, comorbidities. Crude adjusted associations findings assessed using multinomial models generalized logit link. RESULTS: Patients’ mean (SD) age 51.9 (13.6) years; 42% African ancestry, 56% European 44% female. Of 1198 patients, 347 had LVAD/HT, 511 ICD, 340 LVAD/HT ICD. The percentage 26.2%, 15.9%, 15.0% for those only, neither, respectively. After controlling sociodemographic characteristics comorbidities, more than without DCM-related (odds ratio, 2.3 [95% CI, 1.5–3.6]). did differ by ancestry. similar CONCLUSIONS: Advanced associated higher odds adjudicated pathogenic, compared individuals less severe DCM. This finding may help assess risk outcomes management their at-risk family members. REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT03037632.

Language: Английский

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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

The American Journal of Human Genetics, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

Language: Английский

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The use of race and ethnicity in sickle cell disease research

BMC Medical Research Methodology, Journal Year: 2025, Volume and Issue: 25(1)

Published: March 7, 2025

This study explores practices surrounding the operationalization of ethno-racial categories (ERCs) as confounders in biomedical research, with a focus on sickle cell disease (SCD) model. ERCs, often aggregate labels encompassing diverse individuals which raises questions about their relevance confounders. Given SCD's racialization "Black" disease, understanding ERC utilization is crucial. analyzed 1,105 SCD studies published globally. Data were collected whether adjustment was employed, regional variations ERC-adjustment rates, used for rationales provided matching, and methods determination. 28% utilized adjustment, significant disparities (p < 0.001). Notably, Western showed higher rates compared to other regions. However, crucial details such methodology frequently missing. Commonly included "African" or "Black." Only 7% explicit 70% did not specify method The findings underscore need adhere guidelines biomedicine. lack standardized concerns potential biases misinterpretations research outcomes. Adhering clear can mitigate risk perpetuating racial stereotypes inequalities while ensuring integrity. Not applicable.

Language: Английский

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Alcohol Exposure Among Patients With Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study

Circulation Genomic and Precision Medicine, Journal Year: 2025, Volume and Issue: unknown

Published: March 28, 2025

BACKGROUND: Whether prolonged and excessive alcohol consumption contributes to dilated cardiomyopathy (DCM) remains uncertain. This study aimed describe the prevalence of use in patients with DCM their first-degree relatives (FDRs) determine if cumulative exposure associates DCM/partial or modifies association DCM-relevant rare variants. METHODS: All probands had DCM; FDRs were classified as without partial DCM. Alcohol was measured Use Disorder Identification Test-Consumption questionnaire years drinking. Rare variants 36 genes pathogenic, likely uncertain significance (pathogenic, variant significance). Generalized linear mixed models used assess among FDRs. RESULTS: found 21.8% 1373 1148 probands. The former current 68% for 70% About 30% 37% positive scores, indicating moderate heavy Among FDRs, associated presence pathogenic/likely pathogenic (odds ratio, 3.51 [95% CI, 2.33–5.29]) but not exposure. Cumulative modify between these ( P =0.55). CONCLUSIONS: frequent did provide evidence supporting an a modifying effect on REGISTRATION: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT03037632.

Language: Английский

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Rethinking the use of population descriptors in dermatology trials and beyond: disentangling race and ethnicity from skin color

Archives of Dermatological Research, Journal Year: 2025, Volume and Issue: 317(1)

Published: April 19, 2025

Language: Английский

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Toward representative genomic research: the children’s rare disease cohorts experience

Therapeutic Advances in Rare Disease, Journal Year: 2023, Volume and Issue: 4

Published: Jan. 1, 2023

Background: Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers genetic testing in both clinical research settings. It is difficult track such disparities due non-inclusive self-reported race ethnicity categories within the electronic health record (EHR). Inclusion access for all critical achieve equity capture full spectrum of rare disease. Objective: We aimed create revised categories. Additionally, we identified racial ethnic under-representation amongst three cohorts: (1) general Boston Children’s Hospital patient population (general BCH), (2) BCH that underwent genomic (clinical sequencing), (3) Rare Disease Cohort (CRDC) initiative participants. Design Methods: Race data were collected from EHRs BCH, sequencing, CRDC cohorts. constructed a single comprehensive set EHR-based variables mapped each cohort Then, numbers patients category compared across Results: There was significantly lower percentage Black or African American/African, non-Hispanic/non-Latine individuals with cohort, but there no statistically significant difference between sequencing multi-racial, Hispanic/Latine than cohort. White, over-represented two other groups. Conclusion: highlight underrepresentation certain cohorts hospital population. propose range measures address these disparities, strive equitable future precision medicine-based care benefit whole disease community.

Language: Английский

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Reframing health disparities in SLE: A critical reassessment of racial and ethnic differences in lupus disease outcomes

Best Practice & Research Clinical Rheumatology, Journal Year: 2023, Volume and Issue: 37(4), P. 101894 - 101894

Published: Dec. 1, 2023

Health disparities in the prevalence and outcomes of systemic lupus erythematosus (SLE) are well documented across racial ethnic groups. Similar to other chronic diseases, differences disease severity among individuals with SLE likely influenced by both genetic predisposition multiple social determinants health. However, research that jointly examines environmental contributions course is limited, resulting an incomplete understanding biologic mechanisms underly health disparities. While on can reveal inequalities inform resource allocation improve outcomes, relies categories describe diverse groups people pose challenges. Additionally, results from comparing socially constructed without considering contributing factors be misleading. We herein comprehensively examine existing literature SLE, including clinical studies relationship between self-reported race ethnicity explore relationships genomics outcomes. Having surveyed this body research, we propose a framework for examining ways mitigate bias future studies.

Language: Английский

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