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Research Studies is a monthly compilation of research articles funded by AHRQ or authored by AHRQ researchers and recently published in journals or newsletters.
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1 to 16 of 16 Research Studies DisplayedCham S, Landrum MB, Keating NL
Use of germline BRCA testing in patients with ovarian cancer and commercial insurance.
The authors examined commercially insured populations to identify patient-, physician-, and practice-level characteristics associated with ovarian cancer testing rates. They found that only 33.9% of patients with commercial insurance were tested during the time period studied. Medical and gynecologic oncologists had similar rates of testing, while other physicians tested less often. Although independent practices often lack access to genetic counselors, women in this study had insurance coverage for in-person and telephonic counseling.
AHRQ-funded; HS024072.
Citation: Cham S, Landrum MB, Keating NL .
Use of germline BRCA testing in patients with ovarian cancer and commercial insurance.
JAMA Netw Open 2022 Jan 4;5(1):e2142703. doi: 10.1001/jamanetworkopen.2021.42703..
Keywords: Cancer: Ovarian Cancer, Cancer, Screening, Genetics, Health Insurance, Women
Asti L, Hopley C, Avelis C
The potential clinical and economic value of a human papillomavirus primary screening test that additionally identifies genotypes 31, 45, 51, and 52 individually.
This study looked at the potential clinical and economic value of a human papillomavirus (HPV) primary screening test that additionally identified genotypes 31,45,51, and 52 along with genotypes 16 and 18. The authors developed a Markov model of the HPV disease course and evaluated the clinical and economic value of HPV primary screening with Onclarity. Currently HPV primary screening results in 25,194 invasive procedures and 48 invasive cervical cancer (ICC) cases per 100,000 women. Screening with extended genotyping and later screening women with certain genotypes averted 903 to 3163 invasive procedures and results in 0 to 3 more ICC cases compared with current primary screening tests. Extended genotyping was cost effective when costing $75 and cost saving when costing $43. When the probabilities of disease progression increased 2-4 times, it was not cost-effective because it resulted in more ICC cases and accrued fewer quality-adjusted life-years.
AHRQ-funded; HS023317.
Citation: Asti L, Hopley C, Avelis C .
The potential clinical and economic value of a human papillomavirus primary screening test that additionally identifies genotypes 31, 45, 51, and 52 individually.
Sex Transm Dis 2021 May;48(5):370-80. doi: 10.1097/olq.0000000000001327.
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Keywords: Sexual Health, Infectious Diseases, Screening, Diagnostic Safety and Quality, Genetics, Cancer: Cervical Cancer, Cancer, Women
Richardson JS, Kemper AR, Grosse SD
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
The authors sought to estimate health and economic outcomes associated with newborn screening for infantile-onset Pompe disease in the United States. They found that newborn screening for Pompe disease resulted in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
AHRQ-funded; HS020644.
Citation: Richardson JS, Kemper AR, Grosse SD .
Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Genet Med 2021 Apr;23(4):758-66. doi: 10.1038/s41436-020-01038-0..
Keywords: Newborns/Infants, Screening, Genetics
Fraiman YS, Wojcik MH
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
This review article synthesizes the available evidence regarding population disparities in genetic testing for pediatric rare disease diagnosis and identifies gaps in care. The influence of social determinants of health is known, but this study’s goal is to examine the prevalence and nature of disparities in diagnostic testing. It synthesizes the available evidence regarding disparities, defining the need for further, prospective studies.
AHRQ-funded; HS000063.
Citation: Fraiman YS, Wojcik MH .
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
Pediatr Res 2021 Jan;89(2):295-300. doi: 10.1038/s41390-020-01151-5..
Keywords: Children/Adolescents, Social Determinants of Health, Genetics, Diagnostic Safety and Quality, Screening, Disparities
Knerr S, West KM, Angelo FA
Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
Programs conducting population-based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. The authors interviewed individuals instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. Their findings suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population-based hereditary cancer screening and genetic service delivery in clinical practice.
AHRQ-funded; HS022982.
Citation: Knerr S, West KM, Angelo FA .
Organizational readiness to implement population-based screening and genetic service delivery for hereditary cancer prevention and control.
J Genet Couns 2020 Oct;29(5):867-76. doi: 10.1002/jgc4.1216.
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Keywords: Cancer, Screening, Genetics, Prevention, Guidelines, Healthcare Delivery, Organizational Change, Implementation
Mills J, Fakolade A
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.
In this case study, a 31-year-old woman presents for a well-woman examination. She indicates that her mother was diagnosed with tubal cancer at age 40, that her 42-year-old sister was recently diagnosed with breast cancer, and that her maternal aunt was diagnosed with breast cancer at age 45.
AHRQ-authored.
Citation: Mills J, Fakolade A .
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.
Am Fam Physician 2020 Feb 15;101(4):239-40..
Keywords: U.S. Preventive Services Task Force (USPSTF), Cancer: Breast Cancer, Cancer, Genetics, Screening, Women, Prevention, Case Study
Knerr S, Bowles EJA, Leppig KA
Trends in BRCA test utilization in an integrated health system, 2005-2015.
The authors reported 10-year trends in BRCA testing in an integrated health-care system with long-standing access to genetic services. They found that many eligible women did not receive BRCA testing despite having insurance coverage and access to specialty genetic services, thus underscoring challenges to primary and secondary hereditary cancer prevention.
AHRQ-funded; HS022982.
Citation: Knerr S, Bowles EJA, Leppig KA .
Trends in BRCA test utilization in an integrated health system, 2005-2015.
J Natl Cancer Inst 2019 Aug;111(8):795-802. doi: 10.1093/jnci/djz008..
Keywords: Cancer: Breast Cancer, Cancer: Ovarian Cancer, Cancer, Genetics, Screening, Prevention, Healthcare Utilization, Healthcare Delivery, Women
Rotter J, Wilson L, Greiner MA
Shared-patient physician networks and their impact on the uptake of genomic testing in breast cancer.
This study examined the impact of physician networks have on the adoption of genomic testing for women with early stage breast cancer. The genomic assay discussed in this paper is Oncotype DX (ODX) which stratifies risk. The study used retrospective data from the SEER-Medicare database from 2008 to 2012. Early adoption was more likely if the oncologists shared two or more patients during that period. There was a 1.7-fold increase in providers’ adoption of ODX in 2008-2009, and a 1.5-fold increase in their patients receiving ODX in 2010-2012.
AHRQ-funded; HS022189.
Citation: Rotter J, Wilson L, Greiner MA .
Shared-patient physician networks and their impact on the uptake of genomic testing in breast cancer.
Breast Cancer Res Treat 2019 Jul;176(2):445-51. doi: 10.1007/s10549-019-05248-2..
Keywords: Cancer, Cancer: Breast Cancer, Genetics, Screening
Canedo 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
Roberts MC, Dotson WD, DeVore CS
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
Balentine CJ, Vanness DJ, Schneider DF
Cost-effectiveness of lobectomy versus genetic testing (Afirma(R)) for indeterminate thyroid nodules: considering the costs of surveillance.
This study evaluated whether diagnostic thyroidectomy for indeterminate thyroid nodules would be more cost-effective than genetic testing after including the costs of long-term surveillance. Its base case estimate suggests that diagnostic lobectomy dominates genetic testing as a strategy for ruling out malignancy of indeterminate thyroid nodules.
AHRQ-funded; HS023009.
Citation: Balentine CJ, Vanness DJ, Schneider DF .
Cost-effectiveness of lobectomy versus genetic testing (Afirma(R)) for indeterminate thyroid nodules: considering the costs of surveillance.
Surgery 2018 Jan;163(1):88-96. doi: 10.1016/j.surg.2017.10.004.
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Keywords: Cancer, Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening, Surgery, Value
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
Gallego CJ, Shirts BH, Bennette CS
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis.
The researchers evaluated the cost effectiveness of next-generation sequencing (NGS) panels for the diagnosis of colorectal cancer and polyposis (CRCP) syndromes in patients referred to cancer genetics clinics. They concluded that the use of an NGS panel that includes genes associated with highly penetrant CRCP syndromes in addition to Lynch syndrome genes as a first-line test is likely to provide meaningful clinical benefits in a cost-effective manner.
AHRQ-funded; HS021686.
Citation: Gallego CJ, Shirts BH, Bennette CS .
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis.
J Clin Oncol 2015 Jun 20;33(18):2084-91. doi: 10.1200/jco.2014.59.3665..
Keywords: Cancer, Cancer: Colorectal Cancer, Decision Making, Diagnostic Safety and Quality, Genetics, Healthcare Costs, Screening
Lee K, Rossi C
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
