Last data update: Jan 27, 2025. (Total: 48650 publications since 2009)
Records 1-21 (of 21 Records) |
Query Trace: Kolor K[original query] |
---|
Additive value of polygenic risk score to family history for type 2 diabetes prediction: Results From the All of Us Research Database
Drzymalla E , Raffield L , Kolor K , Koyama A , Moonesinghe R , Pavkov ME , Spracklen CN , Khoury MJ . Diabetes Care 2025 48 (2) 212-219 ![]() ![]() OBJECTIVE: The goal of this study was to assess the additive value of considering type 2 diabetes (T2D) polygenic risk score (PRS) in addition to family history for T2D prediction. RESEARCH DESIGN AND METHODS: Data were obtained from the All of Us (AoU) research database. First-degree T2D family history was self-reported on the personal family history health questionnaire. A PRS was constructed from 1,289 variants identified from a large multiancestry genome-wide association study meta-analysis for T2D. Logistic regression models were run to generate odds ratios (ORs) and 95% CIs for T2D. All models were adjusted for age, sex, and BMI. RESULTS: A total of 109,958 AoU research participants were included in the analysis. The odds of T2D increased with 1 SD PRS (OR 1.75; 95% CI 1.71-1.79) and positive T2D family history (OR 2.32; 95% CI 2.20-2.43). In the joint model, both 1 SD PRS (OR 1.69; 95% CI 1.65-1.72) and family history (OR 2.06; 95% CI 1.98-2.15) were significantly associated with T2D, although the ORs were slightly attenuated. Predictive models that included both the PRS and family history (area under the curve [AUC] 0.794) performed better than models including only family history (AUC 0.763) or the PRS (AUC 0.785). CONCLUSIONS: In predicting T2D, inclusion of a T2D PRS in addition to family history of T2D (first-degree relatives) added statistical value. Further study is needed to determine whether consideration of both family history and a PRS would be useful for clinical T2D prediction. |
A scoping review of electronic health records–based screening algorithms for familial hypercholesterolemia
Osei J , Razavi AC , Otchere B , Bonful G , Akoto N , Akyea RK , Qureshi N , Coronado F , Moonesinghe R , Kolor K , Mensah GA , Sperling L , Khoury MJ . JACC Advances 2024 3 Background: Familial hypercholesterolemia (FH) is a common genetic disorder that is strongly associated with premature cardiovascular disease. Effective diagnosis and appropriate treatment of FH can reduce cardiovascular disease risk; however, FH is underdiagnosed. Electronic health record (EHR)-based FH screening tools have been previously described to enhance the detection of FH. Objectives: This scoping review explored the available literature on the performance and utility of existing EHR-based FH screening algorithms or tools. Methods: We searched PubMed, CINAHL, and Embase from inception to October 2023 for relevant literature on the performance, utility, and/or implementation of EHR-based screening algorithms for FH. Results: Of 14 screening algorithms and/or tools identified in the 27 studies included in this review, Familial Hypercholesterolemia Case Ascertainment Tool (1, 2, and ML), FIND FH algorithm, Mayo SEARCH, and TARB-Ex demonstrated the highest performance metrics for identifying patients with FH. Conclusions: EHR-based screening tools hold great potential for improving population-level FH detection. Lack of established diagnostic criteria that can be applied across diverse populations and the lack of information about the performance, utility, and implementation of current EHR-based screening tools across diverse populations limit the current use of these tools. © 2024 |
Severity outcomes among adult patients with primary immunodeficiency and COVID-19 seen in emergency departments, United States, April 2020-August 2021
Drzymalla E , Moonesinghe R , Kolor K , Khoury MJ , Schieber L , Gundlapalli AV . J Clin Med 2023 12 (10) ![]() ![]() Primary immunodeficiencies (PIs) are a group of diseases that increase susceptibility to infectious diseases. Few studies have examined the relationship between PI and COVID-19 outcomes. In this study, we used Premier Healthcare Database, which contains information on inpatient discharges, to analyze COVID-19 outcomes among 853 adult PI and 1,197,430 non-PI patients who visited the emergency department. Hospitalization, intensive care unit (ICU) admission, invasive mechanical ventilation (IMV), and death had higher odds in PI patients than in non-PI patients (hospitalization aOR: 2.36, 95% CI: 1.87-2.98; ICU admission aOR: 1.53, 95% CI: 1.19-1.96; IMV aOR: 1.41, 95% CI: 1.15-1.72; death aOR: 1.37, 95% CI: 1.08-1.74), and PI patients spent on average 1.91 more days in the hospital than non-PI patients when adjusted for age, sex, race/ethnicity, and chronic conditions associated with severe COVID-19. Of the largest four PI groups, selective deficiency of the immunoglobulin G subclass had the highest hospitalization frequency (75.2%). This large study of United States PI patients provides real-world evidence that PI is a risk factor for adverse COVID-19 outcomes. |
Health equity in the implementation of genomics and precision medicine: A public health imperative.
Khoury MJ , Bowen S , Dotson WD , Drzymalla E , Green RF , Goldstein R , Kolor K , Liburd LC , Sperling LS , Bunnell R . Genet Med 2022 24 (8) 1630-1639 ![]() Recent reviews have emphasized the need for a health equity agenda in genomics research. To ensure that genomic discoveries can lead to improved health outcomes for all segments of the population, a health equity agenda needs to go beyond research studies. Advances in genomics and precision medicine have led to an increasing number of evidence-based applications that can reduce morbidity and mortality for millions of people (tier 1). Studies have shown lower implementation rates for selected diseases with tier 1 applications (familial hypercholesterolemia, Lynch syndrome, hereditary breast and ovarian cancer) among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade. |
Prevalence of Americans reporting a family history of cancer indicative of increased cancer risk: Estimates from the 2015 National Health Interview Survey
Kumerow MT , Rodriguez JL , Dai S , Kolor K , Rotunno M , Peipins LA . Prev Med 2022 159 107062 The collection and evaluation of family health history in a clinical setting presents an opportunity to discuss cancer risk, tailor cancer screening recommendations, and identify people with an increased risk of carrying a pathogenic variant who may benefit from referral to genetic counseling and testing. National recommendations for breast and colorectal cancer screening indicate that men and women who have a first-degree relative affected with these types of cancers may benefit from talking to a healthcare provider about starting screening at an earlier age and other options for cancer prevention. The prevalence of reporting a first-degree relative who had cancer was assessed among adult respondents of the 2015 National Health Interview Survey who had never had cancer themselves (n = 27,999). We found 35.6% of adults reported having at least one first-degree relative with cancer at any site. Significant differences in reporting a family history of cancer were observed by sex, age, race/ethnicity, educational attainment, and census region. Nearly 5% of women under age 50 and 2.5% of adults under age 50 had at least one first-degree relative with breast cancer or colorectal cancer, respectively. We estimated that 5.8% of women had a family history of breast or ovarian cancer that may indicate increased genetic risk. A third of U.S. adults who have never had cancer report a family history of cancer in a first-degree relative. This finding underscores the importance of using family history to inform discussions about cancer risk and screening options between healthcare providers and their patients. |
Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework.
Green RF , Ari M , Kolor K , Dotson WD , Bowen S , Habarta N , Rodriguez JL , Richardson LC , Khoury MJ . Genet Med 2018 21 (1) 28-37 ![]() Public health plays an important role in ensuring access to interventions that can prevent disease, including the implementation of evidence-based genomic recommendations. We used the Centers for Disease Control and Prevention (CDC) Science Impact Framework to trace the impact of public health activities and partnerships on the implementation of the 2009 Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Lynch Syndrome screening recommendation and the 2005 and 2013 United States Preventive Services Task Force (USPSTF) BRCA1 and BRCA2 testing recommendations.The EGAPP and USPSTF recommendations have each been cited by >300 peer-reviewed publications. CDC funds selected states to build capacity to integrate these recommendations into public health programs, through education, policy, surveillance, and partnerships. Most state cancer control plans include genomics-related goals, objectives, or strategies. Since the EGAPP recommendation, major public and private payers now provide coverage for Lynch Syndrome screening for all newly diagnosed colorectal cancers. National guidelines and initiatives, including Healthy People 2020, included similar recommendations and cited the EGAPP and USPSTF recommendations. However, disparities in implementation based on race, ethnicity, and rural residence remain challenges. Public health achievements in promoting the evidence-based use of genomics for the prevention of hereditary cancers can inform future applications of genomics in public health. |
Prevalence and Predictors of Cholesterol Screening, Awareness, and Statin Treatment Among US Adults With Familial Hypercholesterolemia or Other Forms of Severe Dyslipidemia (1999-2014).
Bucholz EM , Rodday AM , Kolor K , Khoury MJ , de Ferranti SD . Circulation 2018 137 (21) 2218-2230 ![]() Background -Familial hypercholesterolemia (FH) and other extreme elevations in low-density lipoprotein cholesterol significantly increase the risk of atherosclerotic cardiovascular disease; however, recent data suggest that prescription rates for statins remain low in these patients. National rates of screening, awareness, and treatment with statins among individuals with FH or severe dyslipidemia are unknown. Methods -Data from the 1999 to 2014 National Health and Nutrition Examination Survey were used to estimate prevalence rates of self-reported screening, awareness, and statin therapy among US adults (n=42 471 weighted to represent 212 million US adults) with FH (defined using the Dutch Lipid Clinic criteria) and with severe dyslipidemia (defined as lowdensity lipoprotein cholesterol levels >/=190 mg/dL). Logistic regression was used to identify sociodemographic and clinical correlates of hypercholesterolemia awareness and statin therapy. Results -The estimated US prevalence of definite/probable FH was 0.47% (standard error, 0.03%) and of severe dyslipidemia was 6.6% (standard error, 0.2%). The frequency of cholesterol screening and awareness was high (>80%) among adults with definite/probable FH or severe dyslipidemia; however, statin use was uniformly low (52.3% [standard error, 8.2%] of adults with definite/probable FH and 37.6% [standard error, 1.2%] of adults with severe dyslipidemia). Only 30.3% of patients with definite/probable FH on statins were taking a high-intensity statin. The prevalence of statin use in adults with severe dyslipidemia increased over time (from 29.4% to 47.7%) but not faster than trends in the general population (from 5.7% to 17.6%). Older age, health insurance status, having a usual source of care, diabetes mellitus, hypertension, and having a personal history of early atherosclerotic cardiovascular disease were associated with higher statin use. Conclusions -Despite the high prevalence of cholesterol screening and awareness, only approximately 50% of adults with FH are on statin therapy, with even fewer prescribed a high-intensity statin; young and uninsured patients are at the highest risk for lack of screening and for undertreatment. This study highlights an imperative to improve the frequency of cholesterol screening and statin prescription rates to better identify and treat this high-risk population. Additional studies are needed to better understand how to close these gaps in screening and treatment. |
From public health genomics to precision public health: a 20-year journey.
Khoury MJ , Bowen MS , Clyne M , Dotson WD , Gwinn ML , Green RF , Kolor K , Rodriguez JL , Wulf A , Yu W . Genet Med 2017 20 (6) 574-582 ![]() ![]() In this paper, we review the evolution of the field of public health genomics in the United States in the past two decades. Public health genomics focuses on effective and responsible translation of genomic science into population health benefits. We discuss the relationship of the field to the core public health functions and essential services, review its evidentiary foundation, and provide examples of current US public health priorities and applications. We cite examples of publications to illustrate how Genetics in Medicine reflected the evolution of the field. We also reflect on how public-health genomics is contributing to the emergence of "precision public health" with near-term opportunities offered by the US Precision Medicine (AllofUs) Initiative.GENETICS in MEDICINE advance online publication, 14 December 2017; doi:10.1038/gim.2017.211. |
Trends in utilization and costs of BRCA testing among women aged 18-64 years in the United States, 2003-2014.
Chen Z , Kolor K , Grosse SD , Rodriguez JL , Lynch JA , Green RF , Dotson WD , Bowen MS , Khoury MJ . Genet Med 2017 20 (4) 428-434 ![]() Purpose We examined 12-year trends in BRCA testing rates and costs in the context of clinical guidelines, national policies, and other factors. Methods We estimated trends in BRCA testing rates and costs from 2003 to 2014 for women aged 18-64 years using private claims data and publicly reported revenues from the primary BRCA testing provider. Results The percentage of women with zero out-of-pocket payments for BRCA testing increased during 2013-2014, after 7 years of general decline, coinciding with a clarification of Affordable Care Act coverage of BRCA genetic testing. Beginning in 2007, family history accounted for an increasing proportion of women with BRCA tests compared with personal history, coinciding with BRCA testing guidelines for primary care settings and direct-to-consumer advertising campaigns. During 2013-2014, BRCA testing rates based on claims grew at a faster rate than revenues, following 3 years of similar growth, consistent with increased marketplace competition. In 2013, BRCA testing rates based on claims increased 57%, compared with 11% average annual increases over the preceding 3 years, coinciding with celebrity publicity. Conclusion The observed trends in BRCA testing rates and costs are consistent with possible effects of several factors, including the Affordable Care Act, clinical guidelines and celebrity publicity. GENETICS in MEDICINE advance online publication, 21 September 2017; doi:10.1038/gim.2017.118. |
BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas - United States, 2009-2014.
Kolor K , Chen Z , Grosse SD , Rodriguez JL , Green RF , Dotson WD , Bowen MS , Lynch JA , Khoury MJ . MMWR Surveill Summ 2017 66 (15) 1-11 ![]() PROBLEM/CONDITION: Genetic testing for breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations can identify women at increased risk for breast and ovarian cancer. These testing results can be used to select preventive interventions and guide treatment. Differences between nonmetropolitan and metropolitan populations in rates of BRCA testing and receipt of preventive interventions after testing have not previously been examined. PERIOD COVERED: 2009-2014. DESCRIPTION OF SYSTEM: Medical claims data from Truven Health Analytics MarketScan Commercial Claims and Encounters databases were used to estimate rates of BRCA testing and receipt of preventive interventions after BRCA testing among women aged 18-64 years with employer-sponsored health insurance in metropolitan and nonmetropolitan areas of the United States, both nationally and regionally. RESULTS: From 2009 to 2014, BRCA testing rates per 100,000 women aged 18-64 years with employer-sponsored health insurance increased 2.3 times (102.7 to 237.8) in metropolitan areas and 3.0 times (64.8 to 191.3) in nonmetropolitan areas. The relative difference in BRCA testing rates between metropolitan and nonmetropolitan areas decreased from 37% in 2009 (102.7 versus 64.8) to 20% in 2014 (237.8 versus 191.3). The relative difference in BRCA testing rates between metropolitan and nonmetropolitan areas decreased more over time in younger women than in older women and decreased in all regions except the West. Receipt of preventive services 90 days after BRCA testing in metropolitan versus nonmetropolitan areas throughout the period varied by service: the percentage of women who received a mastectomy was similar, the percentage of women who received magnetic resonance imaging of the breast was lower in nonmetropolitan areas (as low as 5.8% in 2014 to as high as 8.2% in 2011) than metropolitan areas (as low as 7.3% in 2014 to as high as 10.3% in 2011), and the percentage of women who received mammography was lower in nonmetropolitan areas in earlier years but was similar in later years. INTERPRETATION: Possible explanations for the 47% decrease in the relative difference in BRCA testing rates over the study period include increased access to genetic services in nonmetropolitan areas and increased demand nationally as a result of publicity. The relative differences in metropolitan and nonmetropolitan BRCA testing rates were smaller among women at younger ages compared with older ages. PUBLIC HEALTH ACTION: Improved data sources and surveillance tools are needed to gather comprehensive data on BRCA testing in the United States, monitor adherence to evidence-based guidelines for BRCA testing, and assess receipt of preventive interventions for women with BRCA mutations. Programs can build on the recent decrease in geographic disparities in receipt of BRCA testing while simultaneously educating the public and health care providers about U.S. Preventive Services Task Force recommendations and other clinical guidelines for BRCA testing and counseling. |
A knowledge base for tracking the impact of genomics on population health.
Yu W , Gwinn M , Dotson WD , Green RF , Clyne M , Wulf A , Bowen S , Kolor K , Khoury MJ . Genet Med 2016 18 (12) 1312-1314 ![]() PURPOSE: We created an online knowledge base (the Public Health Genomics Knowledge Base (PHGKB)) to provide systematically curated and updated information that bridges population-based research on genomics with clinical and public health applications. METHODS: Weekly horizon scanning of a wide variety of online resources is used to retrieve relevant scientific publications, guidelines, and commentaries. After curation by domain experts, links are deposited into Web-based databases. RESULTS: PHGKB currently consists of nine component databases. Users can search the entire knowledge base or search one or more component databases directly and choose options for customizing the display of their search results. CONCLUSION: PHGKB offers researchers, policy makers, practitioners, and the general public a way to find information they need to understand the complicated landscape of genomics and population health. |
Clinical utility of genetic and genomic services: context matters.
Dotson WD , Bowen MS , Kolor K , Khoury MJ . Genet Med 2015 18 (7) 672-4 ![]() Should diagnoses, and corresponding changes in disease management, be sufficient demonstration of clinical utility, even in the absence of evidence for improved clinical outcomes? This question is posed to the health-care payer community in a recent American College of Medical Genetics and Genomics (ACMG) position statement on the clinical utility of genetic and genomic services.1 Affirmative arguments could be drawn from examples of individually rare, highly penetrant, single-gene disorders. We fully support the ACMG’s call for inclusion of individual, familial, and societal levels of impact in the evaluation of testing. Nevertheless, broadening the definition of clinical utility for all cases may be less helpful in the evaluation of genetic tests than promoting more context-dependent and transparent decision-making, with less rigidity and dogmatic adherence to artificial logic models. |
Public awareness of genetic nondiscrimination laws in four States and perceived importance of life insurance protections.
Parkman AA , Foland J , Anderson B , Duquette D , Sobotka H , Lynn M , Nottingham S , Dotson WD , Kolor K , Cox SL . J Genet Couns 2015 24 (3) 512-21 ![]() Genetic testing has grown dramatically in the past decade and is becoming an integral part of health care. Genetic nondiscrimination laws have been passed in many states, and the Genetic Information Nondiscrimination Act (GINA) was passed at the federal level in 2008. These laws generally protect individuals from discrimination by health insurers or employers based on genetic information, including test results. In 2010, Connecticut, Michigan, Ohio, and Oregon added four questions to their Behavioral Risk Factor Surveillance System (BRFSS) survey to assess interest in genetic testing, awareness of genetic nondiscrimination laws, concern about genetic discrimination in determining life insurance eligibility and cost, and perceived importance of genetic nondiscrimination laws that address life insurance. Survey results showed that awareness of genetic nondiscrimination laws was low (less than 20 % of the adult population), while perceived importance of these types of laws was high (over 80 % of respondents rated them as very or somewhat important). Over two-thirds of respondents indicated they were very or somewhat concerned about life insurance companies using genetic test results to determine life insurance coverage and costs. Results indicate a need for more public education to raise awareness of protections provided through current genetic nondiscrimination laws. The high rate of concern about life insurance discrimination indicates an additional need for continued dialogue regarding the extent of legal protections in genetic nondiscrimination laws. |
Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC).
Green RF , Dotson WD , Bowen S , Kolor K , Khoury MJ . Healthcare (Basel) 2015 3 (3) 830-837 ![]() The national effort to use genomic knowledge to save lives is gaining momentum, as illustrated by the inclusion of genomics in key public health initiatives, including Healthy People 2020, and the recent launch of the precision medicine initiative. The Office of Public Health Genomics (OPHG) at the Centers for Disease Control and Prevention (CDC) partners with state public health departments and others to advance the translation of genome-based discoveries into disease prevention and population health. To do this, OPHG has adopted an "identify, inform, and integrate" model: identify evidence-based genomic applications ready for implementation, inform stakeholders about these applications, and integrate these applications into public health at the local, state, and national level. This paper addresses current and future work at OPHG for integrating genomics into public health programs. |
Horizon scanning for translational genomic research beyond bench to bedside.
Clyne M , Schully SD , Dotson WD , Douglas MP , Gwinn M , Kolor K , Wulf A , Bowen MS , Khoury MJ . Genet Med 2014 16 (7) 535-8 ![]() PURPOSE: The dizzying pace of genomic discoveries is leading to an increasing number of clinical applications. In this report, we provide a method for horizon scanning and 1 year data on translational research beyond bench to bedside to assess the validity, utility, implementation, and outcomes of such applications. METHODS: We compiled cross-sectional results of ongoing horizon scanning of translational genomic research, conducted between 16 May 2012 and 15 May 2013, based on a weekly, systematic query of PubMed. A set of 505 beyond bench to bedside articles were collected and classified, including 312 original research articles; 123 systematic and other reviews; 38 clinical guidelines, policies, and recommendations; and 32 articles describing tools, decision support, and educational materials. RESULTS: Most articles (62%) addressed a specific genomic test or other health application; almost half of these (n = 180) were related to cancer. We estimate that these publications account for 0.5% of reported human genomics and genetics research during the same time. CONCLUSION: These data provide baseline information to track the evolving knowledge base and gaps in genomic medicine. Continuous horizon scanning of the translational genomics literature is crucial for an evidence-based translation of genomics discoveries into improved health care and disease prevention. |
Prioritizing genomic applications for action by level of evidence: a horizon-scanning method.
Dotson WD , Douglas MP , Kolor K , Stewart AC , Bowen MS , Gwinn M , Wulf A , Anders HM , Chang CQ , Clyne M , Lam TK , Schully SD , Marrone M , Feero WG , Khoury MJ . Clin Pharmacol Ther 2013 95 (4) 394-402 ![]() As evidence accumulates on the use of genomic tests and other health-related applications of genomic technologies, decision makers may increasingly seek support in identifying which applications have sufficiently robust evidence to suggest they might be considered for action. As an interim working process to provide such support, we developed a horizon-scanning method that assigns genomic applications to tiers defined by availability of synthesized evidence. We illustrate an application of the method to pharmacogenomics tests. |
Public health action in genomics is now needed beyond newborn screening.
Bowen MS , Kolor K , Dotson WD , Ned RM , Khoury MJ . Public Health Genomics 2012 15 (6) 327-34 ![]() For decades, newborn screening was the only public health program in the US focused on reducing morbidity, mortality and disability in people affected by genetic conditions. The landscape has changed, however, as evidence-based recommendations are now available for several other genomic applications that can save lives now in the US. Many more such applications are expected to emerge in the next decade. An action plan, based on evidence, provides the impetus for a new paradigm for public health practice in genomics across the lifespan using established multilevel processes as a guide. These include policy interventions, education, clinical interventions, and surveillance. Applying what we know today in hereditary breast/ovarian cancer, Lynch syndrome and familial hypercholesterolemia has the potential to affect thousands of people in the US population every year. Enhanced partnerships between genetic and nongenetic providers of clinical medicine and public health are needed to overcome the challenges for implementing genomic medicine applications both now and in the future. |
Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice.
Kolor K , Duquette D , Zlot A , Foland J , Anderson B , Giles R , Wrathall J , Khoury MJ . Genet Med 2012 14 (10) 860-7 ![]() PURPOSE: Direct-to-consumer personal genomic tests are widely available, but population-based data are limited on awareness and use of these tests among the general public in the United States. METHODS: We assessed awareness and use of direct-to-consumer personal genomic tests in Connecticut, Michigan, Oregon, and Utah using the 2009 Behavioral Risk Factor Surveillance System and compared the state results to the 2008 national HealthStyles survey results. RESULTS: Awareness was the highest in Oregon (29.1%) and the lowest in Michigan (15.8%). Factors associated with awareness across all states and nationally were higher education, higher income, and increasing age, except among those 75 years or older. Less than 1% of respondents had used the tests, with about one-half to three-quarters of those sharing the results with a health-care provider. CONCLUSIONS: Awareness of direct-to-consumer genetic tests is greater in this study as compared with a related study conducted in 2006, whereas use is similarly low in both studies. The few respondents who reported using the tests often reported sharing their results with their health-care provider, indicating an important opportunity for health-care providers to offer patient education regarding these tests. Public health agencies have important roles in surveillance, education, and policy development on direct-to-consumer genomic tests. (Genet Med advance online publication 19 July 2012.) |
Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians.
Bellcross CA , Kolor K , Goddard KA , Coates RJ , Reyes M , Khoury MJ . Am J Prev Med 2011 40 (1) 61-6 ![]() BACKGROUND: Testing for mutations in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 (BRCA) has been commercially available since 1996. PURPOSE: This study sought to determine, among U.S. primary care physicians, the level of awareness and utilization of BRCA testing and the 2005 U.S. Preventive Services Task Force (USPSTF) recommendations. METHODS: In 2009, data were analyzed on 1500 physician respondents to the 2007 DocStyles national survey (515 family practitioners, 485 internists, 250 pediatricians, and 250 obstetricians/gynecologists). RESULTS: Overall, 87% of physicians were aware of BRCA testing, and 25% reported having ordered testing for at least one patient in the past year. Ordering tests was most prevalent among obstetricians/gynecologists in practice for more than 10 years, with more affluent patients. Physicians were asked to select indications for BRCA testing from seven different clinical scenarios representing increased (4) or low-risk (3) situations consistent with the USPSTF guidelines. Among ordering physicians (pediatricians excluded), 45% chose at least one low-risk scenario as an indication for BRCA testing. Only 19% correctly selected all of the increased-risk and none of the low-risk scenarios. CONCLUSIONS: A substantial majority of primary care physicians are aware of BRCA testing and many report having ordered at least one test within the past year. A minority, however, appear to consistently recognize the family history patterns identified by the USPSTF as appropriate indications for BRCA evaluation. These results suggest the need to improve providers' knowledge about existing recommendations-particularly in this era of increased BRCA direct-to-consumer marketing. |
Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008.
Kolor K , Liu T , St Pierre J , Khoury MJ . Genet Med 2009 11 (8) 595 ![]() Recent perspectives have argued that genome-wide association studies (GWAS) have only identified a small fraction of the genetic component of most diseases, calling into question the current validity and utility of GWAS variants in predictive risk assessment1., 2., 3., 4. Nevertheless, personal genomic (PG) tests based on GWAS variants have been offered directly to consumers by several companies since 2007. There are currently no published studies on awareness, perceptions, and use of PG tests among health care providers (HPs) and general consumers. Such data are needed to inform educational and policy interventions. We used the 2008 DocStyles and HealthStyles national surveys to gain insights into HP and consumer awareness, perceptions, and use of direct-to-consumer PG tests. For both surveys, PG tests were defined as genetic tests marketed directly to consumers that scan a person's entire genetic makeup for potential health risks; specific company names were provided as examples to distinguish PG tests from other direct-to-consumer genetic tests. The 5399 HealthStyles respondents were 68% white, 12% black, 12% Hispanic, and 7% others; 12% were younger than 35 years, 50% were between 35 and 54 years, and 38% were 55 years or older. Of these respondents, 22% were aware of PG tests, 0.3% had used these tests, and two thirds of these users had shared the test results with a HP. In multivariate logistic regression analyses, significant predictors of consumer awareness of PG tests included older age, female gender, racial or ethnic group other than Black or Hispanic, higher education, and higher income. The 1880 DocStyles respondents were 510 family physicians, 490 internists, 250 pediatricians, 250 obstetrician/gynecologists, 250 dermatologists, and 130 registered dieticians. Of these respondents, 42% were aware of PG tests, with dermatologists and pediatricians most aware (50%) and obstetrician/gynecologists least aware (36%). Other significant predictors of awareness among HPs included older age and hospital or clinic practice setting, when compared with individual or group practice. Among those HPs aware of PG tests, 42% had at least one patient who asked questions in the past year about having such a test, and 15% had at least one patient who brought the results of a PG test to them for discussion in the past year. Among the latter group, which is composed primarily of internists and family physicians, 75% indicated that the PG test results changed some aspect of the patient's care, such as screening tests offered, medications or dosages prescribed, lifestyle changes recommended, frequency of follow-up appointments, or diagnoses made. When HPs aware of PG tests were asked about the likelihood that PG test results would influence their care of a patient if brought in that day, 52% responded somewhat or very likely, whereas 15% were uncertain. HPs who had encountered PG test results in their practice were more likely than other HPs to indicate that the test results were likely to influence patient case (73% vs. 48%; P < 0.0001). The majority of aware HPs had read or heard about PG tests in a media or Internet source (75%), with medical or scientific journals cited next (22%); 97% of aware HPs selected such journals as their most trusted source of information, highlighting the importance of the medical literature in educating physicians about the validity and utility of these tests. |
Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review.
Palomaki GE , Bradley LA , Douglas MP , Kolor K , Dotson WD . Genet Med 2009 11 (1) 21-34 ![]() This evidence-based review addresses the question of whether testing for UGT1A1 mutations in patients with metastatic colorectal cancer treated with irinotecan leads to improvement in outcomes (e.g., irinotecan toxicity, response to treatment, morbidity, and mortality), when compared with no testing. No studies were identified that addressed this question directly. The quality of evidence on the analytic validity of current UGT1A1 genetic testing methods is adequate (scale: convincing, adequate, inadequate), with available data indicating that both analytic sensitivity and specificity for the common genotypes are high. For clinical validity, the quality of evidence is adequate for studies reporting concentration of the active form of irinotecan (SN-38), presence of severe diarrhea, and presence of severe neutropenia stratified by UGT1A1 common genotypes. The strongest association for a clinical endpoint is for severe neutropenia. Patients homozygous for the *28 allele are 3.5 times more likely to develop severe neutropenia compared with individuals with the wild genotype (risk ratio 3.51; 95% confidence interval 2.03-6.07). The proposed clinical utility of UGT1A1 genotyping would be derived from a reduction in drug-related adverse reactions (benefits) while at the same time avoiding declines in tumor response rate and increases in morbidity/mortality (harms). At least three treatment options for reducing this increased risk have been suggested: modification of the irinotecan regime (e.g., reduce initial dose), use of other drugs, and/or pretreatment with colony-stimulating factors. However, we found no prospective studies that examined these options, particularly whether a reduced dose of irinotecan results in a reduced rate of adverse drug events. This is a major gap in knowledge. Although the quality of evidence on clinical utility is inadequate, two of three reviewed studies (and one published since our initial selection of studies for review) found that individuals homozygous for the *28 allele had improved survival. Three reviewed studies found statistically significant higher tumor response rates among individuals homozygous for the *28 allele. We found little or no direct evidence to assess the benefits and harms of modifying irinotecan regimens for patients with colorectal cancer based on their UGT1A1 genotype; however, results of our preliminary modeling of prevalence, acceptance, and effectiveness indicate that reducing the dose would need to be highly effective to have benefits outweigh harms. An alternative is to increase irinotecan dose among wild-type individuals to improve tumor response with minimal increases in adverse drug events. Given the large number of colorectal cancer cases diagnosed each year, a randomized controlled trial of the effects of irinotecan dose modifications in patients with colorectal cancer based on their UGT1A1 genotype is feasible and could clarify the tradeoffs between possible reductions in severe neutropenia and improved tumor response and/or survival in patients with various UGT1A1 genotypes. |
- Page last reviewed:Feb 1, 2024
- Page last updated:Jan 27, 2025
- Content source:
- Powered by CDC PHGKB Infrastructure