The Experts below are selected from a list of 304530 Experts worldwide ranked by ideXlab platform
Dale Muzzey - One of the best experts on this subject based on the ideXlab platform.
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genetic ancestry analysis on 93 000 individuals undergoing expanded carrier screening reveals limitations of Ethnicity based medical guidelines
Genetics in Medicine, 2020Co-Authors: Kristjan Eerik Kaseniit, Imran S Haque, James D Goldberg, Lee P Shulman, Dale MuzzeyAbstract:Purpose Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a patient's self-reported Ethnicity. Ethnicity, which can reflect both genetic ancestry and cultural factors (e.g., religion), may be imperfectly known or communicated by patients. We sought to quantitatively assess the efficacy and equity with which Ethnicity-based carrier screening captures recessive disease risk. Methods For 93,419 individuals undergoing a 96-gene expanded carrier screen (ECS), correspondence was assessed among carrier status, self-reported Ethnicity, and a dual-component genetic ancestry (e.g., 75% African/25% European) calculated from sequencing data. Results Self-reported Ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry from a lineage inconsistent with self-reported Ethnicity. Limitations of self-reported Ethnicity led to missed carriers in at-risk populations: for 10 ECS conditions, patients with intermediate genetic ancestry backgrounds-who did not self-report the associated Ethnicity-had significantly elevated carrier risk. Finally, for 7 of the 16 conditions included in current screening guidelines, most carriers were not from the population the guideline aimed to serve. Conclusion Substantial and disproportionate risk for recessive disease is not detected when carrier screening is based on Ethnicity, leading to inequitable reproductive care.
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genetic ancestry analysis on 93 000 individuals undergoing expanded carrier screening reveals limitations of Ethnicity based medical guidelines
medRxiv, 2019Co-Authors: Kristjan Eerik Kaseniit, Imran S Haque, James D Goldberg, Lee P Shulman, Dale MuzzeyAbstract:Abstract Purpose Despite strong association between genetic ancestry and carrier status, current carrier-screening guidelines recommend testing for a limited set of conditions based on a patient’s self-reported Ethnicity, which conflates genetic and cultural factors. Materials and Methods For 93,419 individuals undergoing a 96-gene expanded carrier screen (ECS), correspondence was assessed among carrier status, self-reported Ethnicity, and a dual-component genetic ancestry (e.g., 75% African/25% European) calculated from sequencing data. Results Self-reported Ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry from a lineage inconsistent with self-reported Ethnicity. Self-reported Ethnicity-based carrier-screening guidelines are incomplete, as several conditions not included in guidelines had similarly strong correlation between carrier rate and genetic ancestry as conditions included in screening guidelines. Limitations of self-reported Ethnicity led to missed carriers in at-risk populations: for 10 ECS conditions, patients with intermediate genetic ancestry backgrounds—who did not self-report the associated Ethnicity—had significantly elevated carrier risk. Finally, for seven of the 16 conditions included in current screening guidelines, most carriers were not from the population the guideline aimed to serve. Conclusion To provide equitable reproductive care, guidelines should discontinue the use of Ethnicity as a basis for determining which patients are appropriate for carrier screening and instead recommend pan-ethnic ECS.
Stephen M Taylor - One of the best experts on this subject based on the ideXlab platform.
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Ethnicity and sexual risk in heterosexual people attending sexual health clinics in england a cross sectional self administered questionnaire study
Sexually Transmitted Infections, 2018Co-Authors: Rachel Coyle, Ada Miltz, Fiona C Lampe, Janey Sewell, Andrew N Phillips, Andrew Speakman, Jyoti Dhar, Lorraine Sherr, Tariq S Sadiq, Stephen M TaylorAbstract:Objectives In the UK, people of black Ethnicity experience a disproportionate burden of HIV and STI. We aimed to assess the association of Ethnicity with sexual behaviour and sexual health among women and heterosexual men attending genitourinary medicine (GUM) clinics in England. Methods The Attitudes to and Understanding of Risk of Acquisition of HIV is a cross-sectional, self-administered questionnaire study of HIV negative people recruited from 20 GUM clinics in England, 2013–2014. Modified Poisson regression with robust SEs was used to calculate adjusted prevalence ratios (aPR) for the association between Ethnicity and various sexual risk behaviours, adjusted for age, study region, education and relationship status. Results Questionnaires were completed by 1146 individuals, 676 women and 470 heterosexual men. Ethnicity was recorded for 1131 (98.8%) participants: 550 (48.6%) black/mixed African, 168 (14.9%) black/mixed Caribbean, 308 (27.2%) white ethnic groups, 105 (9.3%) other Ethnicity. Compared with women from white ethnic groups, black/mixed African women were less likely to report condomless sex with a non-regular partner (aPR (95% CI) 0.67 (0.51 to 0.88)), black/mixed African and black/mixed Caribbean women were less likely to report two or more new partners (0.42 (0.32 to 0.55) and 0.44 (0.29 to 0.65), respectively), and black/mixed Caribbean women were more likely to report an STI diagnosis (1.56 (1.00 to 2.42)). Compared with men from white ethnic groups, black/mixed Caribbean men were more likely to report an STI diagnosis (1.91 (1.20 to 3.04)), but did not report risk behaviours more frequently. Men and women of black/mixed Caribbean Ethnicity remained more likely to report STI history after adjustment for sexual risk behaviours. Discussion Risk behaviours were reported less frequently by women of black Ethnicity; however, history of STI was more prevalent among black/mixed Caribbean women. In black/mixed Caribbean men, higher STI history was not explained by ethnic variation in reported risk behaviours. The association between STI and black/mixed Caribbean Ethnicity remained after adjustment for risk behaviours.
Kristjan Eerik Kaseniit - One of the best experts on this subject based on the ideXlab platform.
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genetic ancestry analysis on 93 000 individuals undergoing expanded carrier screening reveals limitations of Ethnicity based medical guidelines
Genetics in Medicine, 2020Co-Authors: Kristjan Eerik Kaseniit, Imran S Haque, James D Goldberg, Lee P Shulman, Dale MuzzeyAbstract:Purpose Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a patient's self-reported Ethnicity. Ethnicity, which can reflect both genetic ancestry and cultural factors (e.g., religion), may be imperfectly known or communicated by patients. We sought to quantitatively assess the efficacy and equity with which Ethnicity-based carrier screening captures recessive disease risk. Methods For 93,419 individuals undergoing a 96-gene expanded carrier screen (ECS), correspondence was assessed among carrier status, self-reported Ethnicity, and a dual-component genetic ancestry (e.g., 75% African/25% European) calculated from sequencing data. Results Self-reported Ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry from a lineage inconsistent with self-reported Ethnicity. Limitations of self-reported Ethnicity led to missed carriers in at-risk populations: for 10 ECS conditions, patients with intermediate genetic ancestry backgrounds-who did not self-report the associated Ethnicity-had significantly elevated carrier risk. Finally, for 7 of the 16 conditions included in current screening guidelines, most carriers were not from the population the guideline aimed to serve. Conclusion Substantial and disproportionate risk for recessive disease is not detected when carrier screening is based on Ethnicity, leading to inequitable reproductive care.
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genetic ancestry analysis on 93 000 individuals undergoing expanded carrier screening reveals limitations of Ethnicity based medical guidelines
medRxiv, 2019Co-Authors: Kristjan Eerik Kaseniit, Imran S Haque, James D Goldberg, Lee P Shulman, Dale MuzzeyAbstract:Abstract Purpose Despite strong association between genetic ancestry and carrier status, current carrier-screening guidelines recommend testing for a limited set of conditions based on a patient’s self-reported Ethnicity, which conflates genetic and cultural factors. Materials and Methods For 93,419 individuals undergoing a 96-gene expanded carrier screen (ECS), correspondence was assessed among carrier status, self-reported Ethnicity, and a dual-component genetic ancestry (e.g., 75% African/25% European) calculated from sequencing data. Results Self-reported Ethnicity was an imperfect indicator of genetic ancestry, with 9% of individuals having >50% genetic ancestry from a lineage inconsistent with self-reported Ethnicity. Self-reported Ethnicity-based carrier-screening guidelines are incomplete, as several conditions not included in guidelines had similarly strong correlation between carrier rate and genetic ancestry as conditions included in screening guidelines. Limitations of self-reported Ethnicity led to missed carriers in at-risk populations: for 10 ECS conditions, patients with intermediate genetic ancestry backgrounds—who did not self-report the associated Ethnicity—had significantly elevated carrier risk. Finally, for seven of the 16 conditions included in current screening guidelines, most carriers were not from the population the guideline aimed to serve. Conclusion To provide equitable reproductive care, guidelines should discontinue the use of Ethnicity as a basis for determining which patients are appropriate for carrier screening and instead recommend pan-ethnic ECS.
Peter S Dayan - One of the best experts on this subject based on the ideXlab platform.
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cranial computed tomography use among children with minor blunt head trauma association with race Ethnicity
JAMA Pediatrics, 2012Co-Authors: Joanne E Natale, Jill G Joseph, Alexander J Rogers, Prashant Mahajan, Arthur Cooper, David H Wisner, Michelle Miskin, John D Hoyle, Shireen M Atabaki, Peter S DayanAbstract:Objective To determine if patient race/Ethnicity is independently associated with cranial computed tomography (CT) use among children with minor blunt head trauma. Design Secondary analysis of a prospective cohort study. Setting Pediatric research network of 25 North American emergency departments. Patients In total, 42 412 children younger than 18 years were seen within 24 hours of minor blunt head trauma. Of these, 39 717 were of documented white non-Hispanic, black non-Hispanic, or Hispanic race/Ethnicity. Using a previously validated clinical prediction rule, we classified each child's risk for clinically important traumatic brain injury to describe injury severity. Because no meaningful differences in cranial CT rates were observed between children of black non-Hispanic race/Ethnicity vs Hispanic race/Ethnicity, we combined these 2 groups. Main Outcome Measure Cranial CT use in the emergency department, stratified by race/Ethnicity. Results In total, 13 793 children (34.7%) underwent cranial CT. The odds of undergoing cranial CT among children with minor blunt head trauma who were at higher risk for clinically important traumatic brain injury did not differ by race/Ethnicity. In adjusted analyses, children of black non-Hispanic or Hispanic race/Ethnicity had lower odds of undergoing cranial CT among those who were at intermediate risk (odds ratio, 0.84; 95% CI, 0.76-0.94) or lowest risk (odds ratio, 0.73; 95% CI, 0.66-0.81) for clinically important traumatic brain injury. Regardless of risk for clinically important traumatic brain injury, parental anxiety and request was commonly cited by physicians as an important influence for ordering cranial CT in children of white non-Hispanic race/Ethnicity. Conclusions Disparities may arise from the overuse of cranial CT among patients of nonminority races/ethnicities. Further studies should focus on explaining how medically irrelevant factors, such as patient race/Ethnicity, can affect physician decision making, resulting in exposure of children to unnecessary health care risks.
Rachel Coyle - One of the best experts on this subject based on the ideXlab platform.
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Ethnicity and sexual risk in heterosexual people attending sexual health clinics in england a cross sectional self administered questionnaire study
Sexually Transmitted Infections, 2018Co-Authors: Rachel Coyle, Ada Miltz, Fiona C Lampe, Janey Sewell, Andrew N Phillips, Andrew Speakman, Jyoti Dhar, Lorraine Sherr, Tariq S Sadiq, Stephen M TaylorAbstract:Objectives In the UK, people of black Ethnicity experience a disproportionate burden of HIV and STI. We aimed to assess the association of Ethnicity with sexual behaviour and sexual health among women and heterosexual men attending genitourinary medicine (GUM) clinics in England. Methods The Attitudes to and Understanding of Risk of Acquisition of HIV is a cross-sectional, self-administered questionnaire study of HIV negative people recruited from 20 GUM clinics in England, 2013–2014. Modified Poisson regression with robust SEs was used to calculate adjusted prevalence ratios (aPR) for the association between Ethnicity and various sexual risk behaviours, adjusted for age, study region, education and relationship status. Results Questionnaires were completed by 1146 individuals, 676 women and 470 heterosexual men. Ethnicity was recorded for 1131 (98.8%) participants: 550 (48.6%) black/mixed African, 168 (14.9%) black/mixed Caribbean, 308 (27.2%) white ethnic groups, 105 (9.3%) other Ethnicity. Compared with women from white ethnic groups, black/mixed African women were less likely to report condomless sex with a non-regular partner (aPR (95% CI) 0.67 (0.51 to 0.88)), black/mixed African and black/mixed Caribbean women were less likely to report two or more new partners (0.42 (0.32 to 0.55) and 0.44 (0.29 to 0.65), respectively), and black/mixed Caribbean women were more likely to report an STI diagnosis (1.56 (1.00 to 2.42)). Compared with men from white ethnic groups, black/mixed Caribbean men were more likely to report an STI diagnosis (1.91 (1.20 to 3.04)), but did not report risk behaviours more frequently. Men and women of black/mixed Caribbean Ethnicity remained more likely to report STI history after adjustment for sexual risk behaviours. Discussion Risk behaviours were reported less frequently by women of black Ethnicity; however, history of STI was more prevalent among black/mixed Caribbean women. In black/mixed Caribbean men, higher STI history was not explained by ethnic variation in reported risk behaviours. The association between STI and black/mixed Caribbean Ethnicity remained after adjustment for risk behaviours.
