Sarah Knerr

Finding a Place for Genomics in Health Disparities Research

The existence of pronounced differences in health outcomes between US populations is a problem of moral significance and public health urgency. Pursuing research on genetic contributors to such disparities, despite striking data on the fundamental role of social factors, has been controversial. Still, advances in genomic science are providing an understanding of disease biology at a level of precision not previously possible. The potential for genomic strategies to help in addressing population-level disparities therefore needs to be carefully evaluated. Using 3 examples from current research, we argue that the best way to maximize the benefits of population-based genomic investigations, and mitigate potential harms, is to direct research away from the identification of genetic causes of disparities and instead focus on applying genomic methodologies to the development of clinical and public health tools with the potential to ameliorate healthcare inequities, direct population-level health interventions or inform public policy. Such a transformation will require close collaboration between transdisciplinary teams and community members as well as a reorientation of current research objectives to better align genomic discovery efforts with public health priorities and well-recognized barriers to fair health care delivery.

Social and Ethical Implications of Genomics, Race, Ethnicity, and Health Inequities

OBJECTIVES To review ethical, ethnic/ancestral, and societal issues of genetic and genomic information and technologies in the context of racial and ethnic health disparities. DATA SOURCES Research and journal articles, government reports, web sites. CONCLUSION As knowledge of human genetic variation and its link to diseases continues to grow, some see race and ethnicity well poised to serve as genetic surrogates in predicting disease etiology and treatment response. However, stereotyping and bias in clinical interactions can be barriers to effective treatment for racial and ethnic minority patients. IMPLICATIONS FOR NURSING PRACTICE The nursing profession has a key role in assuring that genomic health care does not enhance racial and ethnic health inequities. This will require utilization of new genomic knowledge and caring for each patient as an individual in a culturally and clinically appropriate manner.

Latino Beliefs About Biomedical Research Participation: A Qualitative Study on the U.S.-Mexico Border

Latinos are under-represented in biomedical research conducted in the United States, impeding disease prevention and treatment efforts for this growing demographic group. We gathered perceptions of biomedical research and gauged willingness to participate through elicitation interviews and focus groups with Latinos living on the U.S.–Mexico border. Themes that emerged included a strong willingness to participate in biomedical studies and suggested that Latinos may be under-represented due to limited formal education and access to health information, not distrust. The conflation of research and clinical care was common and motivated participation. Outreach efforts and educational interventions to inform Latinos of participation opportunities and clarify harms and benefits associated with biomedical research participation will be essential to maintain trust within Latino communities.

Human difference in the genomic era: Facilitating a socially responsible dialogue

BackgroundThe study of human genetic variation has been advanced by research such as genome-wide association studies, which aim to identify variants associated with common, complex diseases and traits. Significant strides have already been made in gleaning information on susceptibility, treatment, and prevention of a number of disorders. However, as genetic researchers continue to uncover underlying differences between individuals, there is growing concern that observed population-level differences will be inappropriately generalized as inherent to particular racial or ethnic groups and potentially perpetuate negative stereotypes.DiscussionWe caution that imprecision of language when conveying research conclusions, compounded by the potential distortion of findings by the media, can lead to the stigmatization of racial and ethnic groups.SummaryIt is essential that the scientific community and with those reporting and disseminating research findings continue to foster a socially responsible dialogue about genetic variation and human difference.

Rural Mexican-Americans’ perceptions of family health history, genetics, and disease risk: implications for disparities-focused research dissemination

Disseminating the results of transdisciplinary health disparities research will increasingly involve discussing family health history and/or genetic information with study participants and their communities. Often, individuals’ familiarity and comfort with these topics will be unclear. To inform the dissemination activities of a Center for Population Health and Health Disparities (CPHHD) studying multilevel determinants of breast cancer disparities in Latinas, we talked with Spanish-speaking Mexican-Americans from a rural agricultural community about family health history, genetics, and disease risk. We found that participants had limited genetic literacy but were familiar with some concepts related to family health history. Participants emphasized the role of individual behavior in shaping health and expressed a strong desire for health-related information. This included genetic information about future disease risk, which participants were previously unaware of but thought could be useful for disease prevention. These findings suggest that for research dissemination to facilitate health promotion, gaps in knowledge, particularly genetic knowledge, will need to be overcome. Outreach to underserved Latino communities should take advantage of this existing knowledge of family health history and strong desire for health information, but also take care to not overstate the significance of unreplicated or low-penetrance genetic associations.

A web-based personalized risk communication and decision-making tool for women with dense breasts: Design and methods of a randomized controlled trial within an integrated health care system

BACKGROUND Mammographic breast density is one of the strongest risk factors for breast cancer after age and family history. Mandatory breast density disclosure policies are increasing nationally without clear guidance on how to communicate density status to women. Coupling density disclosure with personalized risk counseling and decision support through a web-based tool may be an effective way to allow women to make informed, values-consistent risk management decisions without increasing distress. METHODS/DESIGN This paper describes the design and methods of Engaged, a prospective, randomized controlled trial examining the effect of online personalized risk counseling and decision support on risk management decisions in women with dense breasts and increased breast cancer risk. The trial is embedded in a large integrated health care system in the Pacific Northwest. A total of 1250 female health plan members aged 40-69 with a recent negative screening mammogram who are at increased risk for interval cancer based on their 5-year breast cancer risk and BI-RADS® breast density will be randomly assigned to access either a personalized web-based counseling and decision support tool or standard educational content. Primary outcomes will be assessed using electronic health record data (i.e., chemoprevention and breast MRI utilization) and telephone surveys (i.e., distress) at baseline, six weeks, and twelve months. DISCUSSION Engaged will provide evidence about whether a web-based personalized risk counseling and decision support tool is an effective method for communicating with women about breast density and risk management. An effective intervention could be disseminated with minimal clinical burden to align with density disclosure mandates. Clinical Trials Registration Number:NCT03029286.

Genetic causal beliefs about obesity, self-efficacy for weight control, and obesity-related behaviours in a middle-aged female cohort.

Objective: Obesity is a heritable condition with well-established risk-reducing behaviours. Studies have shown that beliefs about the causes of obesity are associated with diet and exercise behaviour. Identifying mechanisms linking causal beliefs and behaviours is important for obesity prevention and control. Design: Cross-sectional multi-level regression analyses of self-efficacy for weight control as a possible mediator of obesity attributions (diet, physical activity, genetic) and preventive behaviours in 487 non-Hispanic White women from South King County, Washington. Main Outcome Measures: Self-reported daily fruit and vegetable intake and weekly leisure-time physical activity. Results: Diet causal beliefs were positively associated with fruit and vegetable intake, with self-efficacy for weight control partially accounting for this association. Self-efficacy for weight control also indirectly linked physical activity attributions and physical activity behaviour. Relationships between genetic causal beliefs, self-efficacy for weight control, and obesity-related behaviours differed by obesity status. Self-efficacy for weight control contributed to negative associations between genetic causal attributions and obesity-related behaviours in non-obese, but not obese, women. Conclusion: Self-efficacy is an important construct to include in studies of genetic causal beliefs and behavioural self-regulation. Theoretical and longitudinal work is needed to clarify the causal nature of these relationships and other mediating and moderating factors.

Engaging Study Participants in Research Dissemination at a Center for Population Health and Health Disparities

Background: Research dissemination is a priority for The Partnership for Understanding and Eliminating Disparate Outcomes (PUEDO) for Latinas, a Center for Population Health and Health Disparities located at the Fred Hutchinson Cancer Research Center (FHCRC).Objectives: We aimed to identify types of PUEDO research findings our participants wanted and why, dissemination audiences beyond PUEDO participants, and strategies to communicate diverse findings about breast cancer and breast cancer disparities.Methods: Five focus groups with PUEDO study participants (N = 25) were transcribed for qualitative content analysis (average participants per focus group, 5; range, 2–11).Results: Participants reported wanting to learn aggregate and personal results and were influenced by their life experiences, their experiences as study participants, and the relevance they believed specific results would have for their lives. Women advocated for broad dissemination and inclusive communication using a simple paper-based strategy that would be accessible to diverse audiences (e.g., study participants, policymakers, recent immigrants).Conclusions: Focus groups informed PUEDO’s dissemination strategy, which concentrates on study participants and the regional Latino community. This approach to dissemination should maximize information uptake and community benefit.

Incidence of Neutropenia in Veterans Receiving Lung Cancer Chemotherapy: A Comparison of Administrative Coding and Electronic Laboratory Data

Introduction: The frequency of neutropenia associated with lung cancer chemotherapy outside of randomized trials is largely unknown because administrative coding underestimates its prevalence. This study compared International Classification of Diseases (ICD) diagnosis codes and electronic laboratory results, alone and in combination, for identifying neutropenia events. Methods: Retrospective cohort study of 718 veterans receiving their first course of chemotherapy for non-small cell lung cancer. Incidence of neutropenia was assessed using electronic laboratory results and ICD-9 codes captured in the Department of Veterans Affairs (VA) electronic medical records (EMR). Results: A total of 118 of 718 patients (16.4 percent) were identified with an absolute neutrophil count (ANC) less than 1,000 cells/mm3, while only 49 of 718 patients (6.8 percent) had ICD-9 codes for neutropenia. Using the combination of laboratory results and diagnosis codes, 136 of 718 patients (18.9 percent) experienced a neutropenic event. Compared to laboratory results as a gold standard, diagnosis codes were specific (not present for individuals without a laboratory-documented low ANC), but not sensitive (missing for many individuals with a low ANC documented in their laboratory test results). Conclusion: Relying on ICD codes to identify neutropenia in administrative data likely results in under-reporting. The emerging availability of electronic laboratory results provides an opportunity to more accurately quantify patterns of neutropenia, identify individual risk factors, and assess clinical management practices—including use of colony-stimulating factor prophylaxis—in large community cohorts.

Women’s beliefs about what causes obesity: variation by race/ethnicity and acculturation in a Washington State sample

ABSTRACT Objective: Individuals’ beliefs about the causes of multifactorial health conditions (causal attributions) shape how they conceptualize and respond to health threats and are therefore important for health promotion. Studies of racial/ethnic and cultural variation in obesity causal beliefs, however, are scarce. To address this gap, this study described beliefs about the underlying causes of obesity (genetic inheritance, diet, and physical activity) in Hispanic and non-Hispanic White women participating in a longitudinal cohort study in South King County, Washington State (n = 1,002). Design: Analysis of baseline survey data. Self-reported obesity causal beliefs were compared by race/ethnicity and acculturation indicators (survey language and nativity) using marginal effect estimates generated from multinomial logistic regression models. Results: Hispanic women had a higher probability of not believing ‘at all’ in inheritance and physical activity as causes of obesity – an absolute increase of 33% and 5% over non-Hispanic White women, respectively. Both acculturation indicators were also associated with a higher probability of not believing ‘at all’ in inheritance as a cause of obesity, though Hispanic women who completed the survey in English and were born in the United States had genetic causal beliefs similar to non-Hispanic White women. Behavioral attributions did not vary by acculturation indicators in Hispanic women. Conclusions: Differences in obesity casual beliefs, particularly genetic attributions, exist and may be important for developing and delivering effective obesity-related health promotion interventions. Identifying the determinants and public health consequences of cultural variation in obesity attributions should be the focus of future research.