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- Cancer (3)
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- Case Study (1)
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- Electronic Health Records (EHRs) (1)
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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 6 of 6 Research Studies DisplayedPolubriaginof FCG, Vanguri R, Quinnies K
Disease heritability inferred from familial relationships reported in medical records.
Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. This study used EHR data to compute heritability estimates for 500 disease phenotypes. These analyses provided a validation of the use of EHRs for genetics and disease research.
AHRQ-funded; HS021816; HS022961.
Citation: Polubriaginof FCG, Vanguri R, Quinnies K .
Disease heritability inferred from familial relationships reported in medical records.
Cell 2018 Jun 14;173(7):1692-704.e11. doi: 10.1016/j.cell.2018.04.032..
Keywords: Data, Family Health and History, Genetics, Health Information Technology (HIT), Electronic Health Records (EHRs)
Roberts MC, Dotson WD, DeVore CS
AHRQ Author: Ganiats TG
Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
The authors conducted a scoping review to obtain a broad overview of cascade screening interventions, facilitators and barriers to their use, relevant policy considerations, and future research needs. They sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but found none. Studies in which trained providers contacted relatives directly, rather than through probands (index patients), showed greater cascade screening uptake; however, policies in some states might limit this approach.
AHRQ-authored.
Citation: Roberts MC, Dotson WD, DeVore CS .
Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
Health Aff 2018 May;37(5):801-08. doi: 10.1377/hlthaff.2017.1630.
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Keywords: Family Health and History, Genetics, Policy, Screening
Childers CP, Childers KK, Maggard-Gibbons M
National estimates of genetic testing in women with a history of breast or ovarian cancer.
In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15 percent of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. This study found that fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing.
AHRQ-funded; HS025079.
Citation: Childers CP, Childers KK, Maggard-Gibbons M .
National estimates of genetic testing in women with a history of breast or ovarian cancer.
J Clin Oncol 2017 Dec 1;35(34):3800-06. doi: 10.1200/jco.2017.73.6314.
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Keywords: Cancer, Cancer: Breast Cancer, Cancer: Ovarian Cancer, Family Health and History, Genetics, Quality of Care, Screening, Women
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
Lee K, Rossi C
AHRQ Author: Lee K
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women.
L.M. is a 37-year-old nonsmoking woman who is not taking any medications and has no significant past medical problems. As breast cancer runs in her family, she is interested in genetic testing for breast cancer. This case study poses three multiple choice questions together with the U.S. Preventive Services Task Force recommendations and related background information.
AHRQ-authored.
Citation: Lee K, Rossi C .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women.
Am Fam Physician 2015 Jan 15;91(2):119-20.
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Keywords: Cancer, Cancer: Breast Cancer, Case Study, Family Health and History, Genetics, Prevention, Risk, Screening, U.S. Preventive Services Task Force (USPSTF), Women
Nelson HD, Pappas M, Zakher B
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.
This systematic review was done in support of the U.S. Preventive Services Task Force (USPSTF) updated recommendation on the benefit and harms of risk assessment, genetic testing, and genetic counseling for BRCA-related cancer in women. A systematic review was done on literature from 2004 to July 30, 2013 from MEDLINE, PsycINFO, the Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, Health Technology Assessment, Scopus, and reference lists. Data on the participants, study design, analysis, follow-up, and results was extracted and a second investigator confirmed key data. The studies were rated on study quality and applicability. The analysis found women with high-risk for breast cancer had decreased risk of breast cancer by 85% to 100% by having a mastectomy, and risk of mortality by 81% to 100% compared to women without surgery. There was also a lower risk of breast and ovarian cancer after having salpingo-oopherectomy surgery.
AHRQ-funded; 290200710057
Citation: Nelson HD, Pappas M, Zakher B .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation.
Ann Intern Med 2014 Feb 18;160(4):255-66. doi: 10.7326/m13-1684..
Keywords: U.S. Preventive Services Task Force (USPSTF), Cancer: Breast Cancer, Cancer: Ovarian Cancer, Cancer, Genetics, Screening, Prevention, Guidelines, Evidence-Based Practice, Women, Risk, Family Health and History