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1.
Ethn Dis ; 29(3): 513-516, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31367172

RESUMO

Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple gene variants that, taken alone, have weak associations with disease risks, but collectively may enhance disease predictive value in the population. However, the benefit of PRS may not be equal among non-European populations, as they are under-represented in genome-wide association studies (GWAS) that serve as the basis for PRS development. In this perspective, we discuss a path forward, which includes: 1) inclusion of underrepresented populations in PRS research; 2) global efforts to build capacity for genomic research; 3) equitable implementation of these tools in clinical practice; and 4) traditional public health approaches to reduce risk of adverse health outcomes as an important component to precision health. As precision medicine is implemented in clinical care, researchers must ensure that advances from PRS research will benefit all.

4.
Circ Res ; 125(1): 7-13, 2019 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-31219738

RESUMO

Cardiovascular diseases remain the leading cause of mortality and a major contributor to preventable deaths worldwide. The dominant modifiable risk factors and the social and environmental determinants that increase cardiovascular risk are known, and collectively, are as important in racial and ethnic minority populations as they are in majority populations. Their prevention and treatment remain the foundation for cardiovascular health promotion and disease prevention. Genetic and epigenetic factors are increasingly recognized as important contributors to cardiovascular risk and provide an opportunity for advancing precision cardiovascular medicine. In this review, we explore emerging concepts at the interface of precision medicine and cardiovascular disease in racial and ethnic minority populations. Important among these are the lack of racial and ethnic diversity in genomics studies and biorepositories; the resulting misclassification of benign variants as pathogenic in minorities; and the importance of ensuring ancestry-matched controls in variant interpretation. We address the relevance of epigenetics, pharmacogenomics, genetic testing and counseling, and their social and cultural implications. We also examine the potential impact of precision medicine on racial and ethnic disparities. The National Institutes of Health's All of Us Research Program and the National Heart, Lung, and Blood Institute's Trans-Omics for Precision Medicine Initiative are presented as examples of research programs at the forefront of precision medicine and diversity to explore research implications in minorities. We conclude with an overview of implementation research challenges in precision medicine and the ethical implications in minority populations. Successful implementation of precision medicine in cardiovascular disease in minority populations will benefit from strategies that directly address diversity and inclusion in genomics research and go beyond race and ethnicity to explore ancestry-matched controls, as well as geographic, cultural, social, and environmental determinants of health.

5.
J Natl Compr Canc Netw ; 17(6): 662-668, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31200352

RESUMO

BACKGROUND: This study assessed uptake of the Oncotype DX 21-gene assay over time and characterized which sociodemographic and clinical factors are associated with test uptake among women with lymph node-positive (LN+), hormone receptor-positive, HER2-negative breast cancer. METHODS: Invasive breast cancer cases diagnosed in 2010 through 2013 were included from a SEER database linked to 21-gene assay results performed at Genomic Health's Clinical Laboratory. Factors associated with 21-gene assay uptake were identified using a multivariable logistic regression model. RESULTS: Uptake of the 21-gene assay increased over time and differed by race, socioeconomic status (SES), and age. In the multivariable model, when clinical and SES variables were controlled for, racial differences in test uptake were no longer observed. Private insurance status was associated with higher odds of 21-gene assay uptake (Medicaid vs private insurance: adjusted odds ratio, 0.86; P=.02), and high area-level SES was associated with an increased odds of uptake (quintile 5 vs 1: adjusted odds ratio, 1.6; P<.001). Demographic factors such as age and marital status influenced test uptake, and use varied greatly by geographic region. Uptake of the 21-gene assay increased over time and preceded the assay's inclusion in the NCCN Guidelines for LN+ breast cancer. Differences in uptake by race, SES, and age have persisted over time. However, when clinical and SES variables were controlled for, racial differences in assay uptake were no longer observed. Socioeconomic variables, such as health insurance type and area-level SES, were associated with assay uptake. CONCLUSIONS: Future research should continue to document practice patterns related to the 21-gene assay. Given variation in testing associated with area-level SES, insurance coverage, and geographic region, interventions to understand and reduce differential uptake are needed to ensure equitable access to this genomic test.

6.
Genet Med ; 21(5): 1218-1223, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-31048814

RESUMO

PURPOSE: Implementation science offers methods to evaluate the translation of genomic medicine research into practice. The extent to which the National Institutes of Health (NIH) human genomics grant portfolio includes implementation science is unknown. This brief report's objective is to describe recently funded implementation science studies in genomic medicine in the NIH grant portfolio, and identify remaining gaps. METHODS: We identified investigator-initiated NIH research grants on implementation science in genomic medicine (funding initiated 2012-2016). A codebook was adapted from the literature, three authors coded grants, and descriptive statistics were calculated for each code. RESULTS: Forty-two grants fit the inclusion criteria (~1.75% of investigator-initiated genomics grants). The majority of included grants proposed qualitative and/or quantitative methods with cross-sectional study designs, and described clinical settings and primarily white, non-Hispanic study populations. Most grants were in oncology and examined genetic testing for risk assessment. Finally, grants lacked the use of implementation science frameworks, and most examined uptake of genomic medicine and/or assessed patient-centeredness. CONCLUSION: We identified large gaps in implementation science studies in genomic medicine in the funded NIH portfolio over the past 5 years. To move the genomics field forward, investigator-initiated research grants should employ rigorous implementation science methods within diverse settings and populations.

7.
Cancer Control ; 26(1): 1073274819846603, 2019 Jan-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31131620

RESUMO

The expanding sources of media coverage of cancer may have a powerful impact on emotions, cancer knowledge, information seeking, and other health behaviors. We explored whether television advertisements were associated with cancer worry, perceived risk, and perceived ability to prevent cancer using cross-sectional data from the Health Information National Trends Survey (HINTS) linked to television advertisement data from Kantar Media. We conducted hierarchical linear modeling assessing 2-level models for each of the 3 outcomes of interest. The most common content included advertisements for cancer clinics (54.4%), public service announcements about cancer (22.0%), and advertisements about cancer organizations (9.1%). Most variance in cancer perceptions was due to individual-level characteristics and not exposure to television advertisements, which aligns with previous literature suggesting a small, but significant, association of television exposure with health beliefs. Higher levels of exposures to cancer-specific television advertisements were associated with higher levels of risk perceptions. Additionally, older adults' levels of perceived worry and risk were more likely to be associated with television exposure than younger adults. Given the substantial investments being made in cancer advertisements on television, the differences in exposure are important to consider in future efforts to understand predictors of beliefs about cancer and in the development of interventions designed to target risk-reducing behaviors.

8.
Ethn Dis ; 29(Suppl 1): 187-192, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30906168

RESUMO

The integration of genomic data into screening, prevention, diagnosis, and treatment for clinical and public health practices has been slow and challenging. Implementation science can be applied in tackling the barriers and challenges as well as exploring opportunities and best practices for integrating genomic data into routine clinical and public health practice.In this article, we define the state of disparities in genomic medicine and focus predominantly on late-stage research findings. We use case studies from genetic testing for cardiovascular diseases (familial hypercholesterolemia) and cancer (Lynch syndrome and hereditary breast and ovarian cancer syndrome) in high-risk populations to consider current disparities and related barriers in turning genomic advances into population health impact to advance health equity. Finally, we address how implementation science can address these translational barriers and we discuss the strategic importance of collaborative multi-stakeholder approaches that engage public health agencies, professional societies, academic health and research centers, community clinics, and patients and their families to work collectively to improve population health and reduce or eliminate health inequities.

9.
J Community Genet ; 2019 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-30835082

RESUMO

The study objective was to examine bivariate and multivariate associations among worry, perceptions, attitudes, sociodemographics, and uptake of cancer-related germline genetic testing. We used data from the Health Information National Trends Survey (cycle 5.1), administered (January-May 2017) to a nationally representative sample of non-institutionalized adults (n = 3285). Those who had "heard about genetic tests that determine how a disease can be treated" had a higher likelihood of Lynch syndrome and BRCA1/2 testing (aRR = 2.57, p < 0.01; aRR = 3.23, p < 0.04). Attitudinal and psychosocial variables were not associated with uptake. Future research should explore ways to educate the public about the potential use of genetics in treatment decision-making.

10.
Prev Med ; 123: 12-19, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30817954

RESUMO

We examined what proportion of the U.S. population with no personal cancer history reported receiving either genetic counseling or genetic testing for cancer risk, and also the association of these behaviors with cancer risk perceptions. We used data from the 2015 National Health Interview Survey. Objective relative risk scores for breast (women) and colorectal (men and women) cancer risk were generated for individuals without a personal history of cancer. Participants' risk perceptions were compared with their objective relative risk. Of 12,631 women, 1.2% reported receiving genetic counseling and 0.8% genetic testing for hereditary breast cancer risk. Of 15,085 men and women, 0.8% reported receiving genetic counseling and 0.3% genetic testing for hereditary colorectal cancer risk. Higher breast cancer risk perception was associated with genetic counseling (OR: 4.31, 95%CI: 2.56, 7.26) and testing (OR: 3.56, 95%CI: 1.80, 7.03). Similarly, higher perception of colorectal cancer risk was associated with genetic counseling (OR: 5.04, 95%CI: 2.57, 9.89) and testing (OR: 5.92, 95%CI: 2.40, 14.63). A higher proportion of individuals with colorectal cancer risk perceptions concordant with their objective risk (vs. discordant) had undergone genetic counseling or testing for colorectal cancer risk. Concordant risk perceptions for breast cancer were not associated with breast cancer genetic counseling or testing. Given frequent dialogue about implementing population level programs involving genetic services for cancer risk, policy makers and investigators should consider the role of risk perceptions in the effectiveness and design of such programs and potential strategies for addressing inaccuracies in risk perceptions.

11.
LGBT Health ; 6(3): 134-137, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30789301

RESUMO

PURPOSE: We aimed to determine whether there are differences between sexual minority women and heterosexual women in family health history knowledge. METHODS: We used data from Dr. Susan Love Research Foundation's The Health of Women Study®. We included women who completed two of six online surveys between 2012 and 2015 (n = 22,410). RESULTS: Compared with heterosexual women, bisexual and lesbian women had consistently greater odds of not knowing their family health history (e.g., odds ratios of 2.59 and 1.56 for breast cancer, respectively). CONCLUSION: To avoid exacerbating existing health disparities, in the era of precision medicine, we must address gaps in knowledge of family health history.

12.
Genet Med ; 21(8): 1735-1743, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30568309

RESUMO

PURPOSE: We examined the role of ethnic identity (which measures the degree to which individuals identify with their ethnic group) in beliefs about, and intentions to learn, genomic results. METHODS: A longitudinal cohort was recruited to implement genome sequencing among healthy participants self-identifying as African, African American, or Afro-Caribbean, 40-65 years old (n = 408). Before receiving genomic results, participants completed a survey assessing social and behavioral constructs related to health, genomics, and ethnic identity. RESULTS: Ethnic identity was positively correlated with perceived value of genomic results and expected benefits from genomic research participation. Among participants with stronger ethnic identity, cognitive beliefs (perceived value of results [b = 0.63, 95% confidence interval: 0.29, 0.98, p < 0.001] and expected benefits from genomic research participation [b = 0.32, 95% confidence interval: 0.12, 0.53, p = 0.002]) were associated with intentions to receive results. Among those with weaker ethnic identity, there was no such association. CONCLUSION: Individuals with stronger ethnic identity seem to attend more to cognitive beliefs such as the value of genomic results when deliberating receipt of results compared with those with weaker ethnic identity. Understanding ethnic identity variation and its influence on genome sequencing perceptions and intentions can inform future research opportunities using ethnic identity to explore specific practical, clinical questions.

13.
Public Health Genomics ; : 1-7, 2018 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-30466105

RESUMO

BACKGROUND: The growing availability of genomic information to the public may spur discussion about genetics and genomics on social media. Sites, including Twitter, provide a unique space for the public to access and discuss health information. The objective of this study was to better understand how social media users are sharing information about genetics and genomics in health and healthcare and what information is most commonly discussed among Twitter users. METHODS: We obtained tweets with specific genetics- and genomics-related keywords from Crimson Hexagon. We used Boolean logic to collect tweets containing chosen keywords within the timeframe of October 1, 2016, to October 1, 2017. Features of the software were used to identify salient themes in conversation, conduct an emergent content analysis, and gather key demographic information. RESULTS: We obtained 347,196 tweets from our search. There was a monthly average volume of 28,432 tweets. The five categories of tweets included: genetic disorders/disease (45.3%), health (15.6%), genomics (8%), and genetic testing (7.3%). Top influencers in the conversation included news outlets and universities. CONCLUSIONS: This content analysis provides insight about the types of conversation related to genomics and health. Conversations about genomics are occurring on Twitter, and they frequently emphasize rare genetic diseases and genetic disorders. These discussions tend to be driven by key influencers who primarily include news media outlets. Further understanding of the discussions related to genomics and health in social media may offer insight about topics of importance to the public.

14.
Artigo em Inglês | MEDLINE | ID: mdl-30413980

RESUMO

PURPOSE: To evaluate factors associated with compliance to the National Comprehensive Cancer Network (NCCN) guidelines for BRCA1/2 testing and identify groups who are at risk of under- and over-use of BRCA1/2 testing. METHODS: Data included 20,758 women from Dr. Susan Love Research Foundation's The Health of Women (HOW) Study®. Multinomial logistic regression was used to examine the association of socioeconomic and demographic characteristics with whether the woman was over-, under-, or appropriately tested for BRCA1/2 mutations, per 2015 NCCN guidelines. RESULTS: 3894 women (18.8%) reported BRCA1/2 testing. 5628 (27.1%) women who met NCCN criteria for testing were not tested. Among women with a history of breast cancer, those without health insurance were more likely to be under-tested (OR 2.04, 95% CI 1.15-3.60) than those with managed care insurance, and higher education was associated with a lower likelihood of under-testing (Graduate/professional degree OR 0.71, 95% CI 0.55-0.91). CONCLUSION: Almost 30% of women were under-tested, indicating that many high-risk women who may benefit from genetic testing are currently being missed. Without appropriate testing, providers are unable to tailor screening recommendations to those carrying mutations who are at highest risk. Patient and healthcare provider education and outreach targeted to low-income and under-served populations may assist in reducing under-testing.

15.
J Natl Cancer Inst ; 110(10): 1041-1047, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30252079

RESUMO

Major knowledge gaps limit the development and implementation of interventions to improve employment outcomes among people with cancer. To identify research priorities to improve employment outcomes after cancer, the National Cancer Institute sponsored the meeting "Evidence-Based Approaches for Optimizing Employment Outcomes among Cancer Survivors." This article describes research recommendations stemming from the meeting. At the patient level, longitudinal studies are needed to better understand how patient sociodemographic and clinical characteristics and their experiences at work shape employment outcomes. Interventions that mitigate the impact of cancer and its treatment on employment are critical. At the provider-level, future research is needed to characterize the extent to which physicians and other healthcare providers talk to their patients about employment concerns and how that information is used to inform care. Additionally, there is a need to test models of care delivery that support routine screening of employment concerns, the capture of employment outcomes in electronic health records, and the effective use of this information to improve care. At the employer level, evidence-based training programs are needed to prepare supervisors, managers, human resources staff, and occupational health professionals to address health issues in the workplace; and future interventions are needed to improve patient -employer communication and facilitate workplace accommodations. Importantly, research is needed that reflects the perspectives and priorities of patients and their families, providers and healthcare systems, and employers. Transdisciplinary partnerships and stakeholder engagement are essential to ensure that employment-focused interventions and policies are developed, implemented, and sustained in real-world healthcare delivery and workplace settings.

16.
Artigo em Inglês | MEDLINE | ID: mdl-30130140

RESUMO

BACKGROUND: We tested a theoretical framework to explain differences in coping responses to breast cancer between lesbian and heterosexual women. MATERIALS AND METHODS: Breast cancer survivors were recruited through cancer registries and community-based sampling. Cross-sectional telephone surveys were completed among self-identified lesbian (n = 330) and heterosexual (n = 595) women who were diagnosed with breast cancer. Five subscales from the Mini-Mental Adjustment to Cancer (Mini-MAC) Scale were used to measure coping with breast cancer among women post-treatment. Mediation analysis was used to examine the explanatory power of life course factors (e.g., parenting and education) in explicating the association between sexual identity and coping responses. RESULTS: Lesbian women had lower mean scores on the anxious preoccupation and cognitive avoidance subscales (p < 0.05). These differences were moderated by age at diagnosis, with differences in anxious preoccupation and cognitive avoidance greater among women diagnosed with breast cancer before 45 years of age. Having children mediated the association between lesbian identity and anxious preoccupation, but only among women diagnosed at younger ages. College education mediated the association between lesbian identity and cognitive avoidance among women diagnosed at older ages. CONCLUSIONS: Despite previous evidence of suboptimal cancer care and gaps in supportive services, lesbian women with breast cancer demonstrate adaptive coping. This study calls for an increased focus on life course factors, both in the empirical and theoretical literature, which may partially explain some of this resiliency. Identifying mechanisms that lead to active coping can inform supportive care for both lesbian and heterosexual women.

17.
JAMA Oncol ; 4(11): 1484-1485, 2018 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-29978191
18.
Health Aff (Millwood) ; 37(5): 801-808, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29733730

RESUMO

Cascade screening is the process of contacting relatives of people who have been diagnosed with certain hereditary conditions. Its purpose is to identify, inform, and manage those who are also at risk. We 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. We searched for relevant peer-reviewed literature in the period 1990-2017 and reviewed 122 studies. Finally, we described 45 statutes and regulations related to the use and release of genetic information across the fifty states. We sought standardized best practices for optimizing cascade screening across various geographic and policy contexts, but we 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. Major barriers to cascade screening delivery include suboptimal communication between the proband and family and geographic barriers to obtaining genetic services. Few US studies examined interventions for cascade screening or used rigorous study designs such as randomized controlled trials. Moving forward, there remains an urgent need to conduct rigorous intervention studies on cascade screening in diverse US populations, while accounting for state policy considerations.

19.
Am J Prev Med ; 54(5): 699-703, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29551327

RESUMO

INTRODUCTION: Appreciating the accuracy and value of cancer screening is essential to informed decision making about screening. This study's objectives were to (1) examine people's beliefs about the accuracy and value of cancer screening, and (2) determine whether sociodemographics, cancer beliefs, and shared decision making are associated with these beliefs. METHODS: Data from the National Cancer Institute's Health Information National Trends Survey (cycle 4, August-November 2014) were used. Respondents were non-institutionalized adults (aged ≥18 years, n=3,677). Weighted generalized linear modeling was used to examine bivariate and multivariate associations between key covariates and beliefs about cancer screening (assessed by four-item scale and independently). Secondary analyses examined whether these beliefs were associated with self-reported cancer screening. Data were analyzed between 2016 and 2017. RESULTS: Only 5.6% (n=189) of respondents answered all four cancer screening items correctly. Men, racial/ethnic minorities, and those with lower education and higher cancer fatalism were less likely to have accurate beliefs about cancer screening. However, those who reported shared decision making for colorectal cancer screening were more likely to know that "when a test finds something abnormal, more tests are needed to know if it is cancer" and "when a test finds something abnormal, it is [not] very likely to be cancer" (adjusted risk ratio=1.13, p<0.01, adjusted risk ratio=1.25, p<0.01). Beliefs were not associated with likelihood of past mammography or Pap testing. CONCLUSIONS: Educators, researchers, and clinicians should consider opportunities (e.g., through shared decision making) to improve the accuracy of individuals' beliefs about cancer screening.

20.
Am J Public Health ; 108(4): 493-499, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29470122

RESUMO

OBJECTIVES: To examine how combinations of state policies, rather than single policies, are related to uptake of human papillomavirus (HPV) vaccine. METHODS: Using publicly available records and the literature, we characterized policies for each US state and Washington, DC, in 2015 (n = 51), including (1) Medicaid expansion, (2) policies permitting HPV vaccination in pharmacies, (3) school-entry requirements, (4) classroom sex education mandates, and (5) parental education mandates. Using qualitative comparative analysis, we identified which existing combinations of these policies were necessary and sufficient for high HPV vaccine initiation among adolescents, with National Immunization Survey-Teen data. RESULTS: No single policy was necessary or sufficient for high HPV vaccine uptake; however, 1 set of policies had consistently high HPV vaccine uptake: adoption of all policies except parental education mandates (girls: consistency = 1.00, coverage = 0.07; boys: consistency = 0.99, coverage = 0.08). CONCLUSIONS: We identified a set of polices related to high HPV vaccine uptake. Future studies should examine how these policies and others, individually and in combination, are associated with HPV vaccine uptake. Public Health Implications. This study provides insight into what sets of policies are consistently related to high HPV vaccine uptake.

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