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AHRQ Research Studies
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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
Results
1 to 8 of 8 Research Studies DisplayedCanedo JR, Miller ST, Myers HF
Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: systematic review.
This systematic review examined racial and ethnic differences in knowledge and attitudes about genetic testing in the US. The authors found 12 articles published in 1997-2017 that met their inclusion criteria. The studies found consistent patterns of lower awareness of genetic testing in general among non-White populations, lower factual knowledge scores among Blacks and Hispanics/Latinos, and mixed findings of differences of awareness of direct-to-consumer genetic testing or the term precision medicine.
AHRQ-funded; HS026122.
Citation: Canedo JR, Miller ST, Myers HF .
Racial and ethnic differences in knowledge and attitudes about genetic testing in the US: systematic review.
J Genet Couns 2019 Jun;28(3):587-601. doi: 10.1002/jgc4.1078..
Keywords: Racial and Ethnic Minorities, Genetics, Screening, Social Determinants of Health
Childers KK, Maggard-Gibbons M, Macinko J
National distribution of cancer genetic testing in the United States: evidence for a gender disparity in hereditary breast and ovarian cancer.
Identifying mutation carriers is critical for treatment decisions, cancer prevention, and early detection. This study analyzed the 2015 US National Health Interview Survey (NHIS), a cross-sectional in-person interview gathering self-reported health data for the US population. The study found that while cancer genetic testing seems to reach a broad geographic and sociodemographic population in the national survey, there remain underrepresented groups, including Hispanics, the uninsured, noncitizens, and those with less education.
AHRQ-funded; HS025079.
Citation: Childers KK, Maggard-Gibbons M, Macinko J .
National distribution of cancer genetic testing in the United States: evidence for a gender disparity in hereditary breast and ovarian cancer.
JAMA Oncol 2018 Jun;4(6):876-79. doi: 10.1001/jamaoncol.2018.0340..
Keywords: Cancer, Cancer: Breast Cancer, Cancer: Ovarian Cancer, Genetics, Racial and Ethnic Minorities, Screening, Social Determinants of Health, Women
Chuang LS, Villaverde N, Hui KY
A frameshift in CSF2RB predominant among Ashkenazi Jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF.
The authors sought to identify rare, Crohn's disease-associated frameshift variants of high functional and statistical effects. They associated Crohn's disease with a frameshift mutation in CSF2RB. Intestinal monocytes from carriers of this mutation had reduced responses to granulocyte-macrophage colony-stimulating factor.
AHRQ-funded; HS021747.
Citation: Chuang LS, Villaverde N, Hui KY .
A frameshift in CSF2RB predominant among Ashkenazi Jews increases risk for Crohn's disease and reduces monocyte signaling via GM-CSF.
Gastroenterology 2016 Oct;151(4):710-23.e2. doi: 10.1053/j.gastro.2016.06.045.
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Keywords: Digestive Disease and Health, Genetics, Risk, Racial and Ethnic Minorities
Williams RC, Elston RC, Kumar P
Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND).
The researchers studied individual genetic ancestry (IGA) in four samples in the Family Investigation of Nephropathy and Diabetes (FIND). They found that the identified set of ancestry informtive markers (AIMs) may be particularly useful for estimating genetic admixture in populations from the Americas. They concluded that odds ratios for the associations of IGA with disease are consistent with what is known about the incidence and prevalence of diabetic nephropathy in these populations.
AHRQ-funded; HS008365.
Citation: Williams RC, Elston RC, Kumar P .
Selecting SNPs informative for African, American Indian and European Ancestry: application to the Family Investigation of Nephropathy and Diabetes (FIND).
BMC Genomics 2016 May 4;17:325. doi: 10.1186/s12864-016-2654-x.
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Keywords: Diabetes, Family Health and History, Genetics, Neurological Disorders, Racial and Ethnic Minorities
Kimberly RP, Rich SS, Cho JH
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
The researchers performed a genetic mapping study using the Immunochip to determine whether inflammatory bowel disease (IBD) susceptibility loci in Caucasians also affect risk in African Americans (AAs) and identify new associated loci. In their analysis of 3,308 AA IBD cases and controls, they found that many variants associated with IBD in Caucasians also showed association evidence with these diseases in AAs.
AHRQ-funded; HS021747.
Citation: Kimberly RP, Rich SS, Cho JH .
Characterization of genetic loci that affect susceptibility to inflammatory bowel diseases in African Americans.
Gastroenterology 2015 Nov;149(6):1575-86. doi: 10.1053/j.gastro.2015.07.065..
Keywords: Racial and Ethnic Minorities, Genetics, Risk, Health Information Technology (HIT)
Duconge J, Cadilla CL, Seip RL
Why admixture matters in genetically-guided therapy: missed targets in the COAG and EU-PACT trials.
It is now well recognized that these commonly used pharmacogenetic algorithms perform poorly when applied to people with substantial African heritage. The authors of this letter conclude that the best approach for global pharmacogenetics is to guide warfarin dosing by using a pharmacogenetic-based algorithm that also accounts for the effect of admixture or ancestry proportions.
AHRQ-funded; HS022304.
Citation: Duconge J, Cadilla CL, Seip RL .
Why admixture matters in genetically-guided therapy: missed targets in the COAG and EU-PACT trials.
P R Health Sci J 2015 Sep;34(3):175-7..
Keywords: Racial and Ethnic Minorities, Genetics, Blood Thinners, Medication
Roberts MC, Weinberger M, Dusetzina SB
Racial variation in adjuvant chemotherapy initiation among breast cancer patients receiving oncotype DX testing.
The researchers examined whether adjuvant chemotherapy initiation varied by race. No racial differences were found in adjuvant chemotherapy initiation among women receiving ODX testing. As treatment decision-making becomes increasingly targeted with the use of genetic technologies, these results provide evidence that test results may drive treatment in a similar way across racial subgroups.
AHRQ-funded; HS022189.
Citation: Roberts MC, Weinberger M, Dusetzina SB .
Racial variation in adjuvant chemotherapy initiation among breast cancer patients receiving oncotype DX testing.
Breast Cancer Res Treat 2015 Aug;153(1):191-200. doi: 10.1007/s10549-015-3518-9..
Keywords: Cancer: Breast Cancer, Treatments, Decision Making, Genetics, Racial and Ethnic Minorities
Yang SK, Hong M, Baek J
A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.
The researchers identified and replicated a variant associated with substantially elevated risk of thiopurine-associated leukopenia diverse populations. Their approach identified a nonsynonymous and potentially damaging polymorphism in a gene involved in purine metabolism that demonstrated clinical usefulness for patients at risk of this potentially life-threatening condition.
AHRQ-funded; HS021747
Citation: Yang SK, Hong M, Baek J .
A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia.
Nat Genet. 2014 Sep;46(9):1017-20. doi: 10.1038/ng.3060..
Keywords: Genetics, Medication, Racial and Ethnic Minorities