Carol P. Somkin

Shared Decision Making and the Experience of Partnership in Primary Care

PURPOSE Communication has been researched either as a set of behaviors or as a facet of the patient-physician relationship, often leading to conflicting results. To determine the relationship between these perspectives, we examined shared decision making (SDM) and the subjective experience of partnership for patients and physicians in primary care. METHODS From a convenience sample of experienced primary care physicians in 3 clinics, we recruited a stratified sample of 18 English- or Spanish-speaking patients. Direct observation of visits was followed by videotape-triggered stimulated recall sessions with patients and physicians. We coded decision moments for objective evidence of SDM, using a structured instrument. We classified patients’ and physicians’ subjective experience of partnership as positive or negative by a consensus analysis of stimulated recall sessions. We combined results from these 2 analyses to generate 4 archetypes of engagements and used grounded theory to identify themes associated with each archetype. RESULTS The 18 visits yielded 125 decisions, 62 (50%) of which demonstrated SDM. Eighty-two decisions were discussed in stimulated recall and available for combined analysis, resulting in 4 archetypes of engagement in decision making: full engagement (SDM present, subjective experience positive)—22%; simulated engagement (SDM present, subjective experience negative)—38%; assumed engagement (SDM absent, subjective experience positive)—21%; and nonengagement (SDM absent, subjective experience negative)—19%. Thematic analysis revealed that both relationship factors (eg, trust, power) and communication behavior influenced subjective experience of partnership. CONCLUSIONS Combining direct observation and assessment of the subjective experience of partnership suggests that communication behavior does not ensure an experience of collaboration, and a positive subjective experience of partnership does not reflect full communication. Attempts to enhance patient-physician partnership must attend to both effective communication style and affective relationship dynamics.

Design and coverage of high throughput genotyping arrays optimized for individuals of East Asian, African American, and Latino race/ethnicity using imputation and a novel hybrid SNP selection algorithm.

Four custom Axiom genotyping arrays were designed for a genome-wide association (GWA) study of 100,000 participants from the Kaiser Permanente Research Program on Genes, Environment and Health. The array optimized for individuals of European race/ethnicity was previously described. Here we detail the development of three additional microarrays optimized for individuals of East Asian, African American, and Latino race/ethnicity. For these arrays, we decreased redundancy of high-performing SNPs to increase SNP capacity. The East Asian array was designed using greedy pairwise SNP selection. However, removing SNPs from the target set based on imputation coverage is more efficient than pairwise tagging. Therefore, we developed a novel hybrid SNP selection method for the African American and Latino arrays utilizing rounds of greedy pairwise SNP selection, followed by removal from the target set of SNPs covered by imputation. The arrays provide excellent genome-wide coverage and are valuable additions for large-scale GWA studies.

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian–European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent–child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent–child pairs was largely due to intermarriage. The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies.

Effects of obesity and race on prognosis in lymph node-negative, estrogen receptor-negative breast cancer

SummaryBackgroundSeveral factors may contribute to poorer prognosis for obese breast cancer patients, including unfavorable disease features, the influence of fat on estrogen availability, co-morbidity, and socio-demographic factors. Both obesity and estrogen receptor negative (ER-) tumors are more prevalent in black women than in whites in North America. We evaluated obesity and race in relation to outcomes in women with ER-breast cancer.MethodsAmong 4077 women from National Surgical Adjuvant Breast and Bowel Project clinical trials for node-negative, ER-breast cancer, we evaluated disease-free survival (DFS) and its constituents (tumor recurrence, contralateral breast cancer (CBC), second primary cancers, deaths prior to these events) and mortality in relation to body mass index (BMI) and race, using statistical modeling to account for other prognostic factors.ResultsCompared to those of normal weight (BMI≤24.9), DFS hazard was greater for obese (BMI ≥ 30) women [hazard ratio (HR)=1.16, 95% confidence interval (CI)=1.01–1.33]. Obesity did not increase recurrence hazard, but did influence CBC (HR=2.08, 95% CI=1.22–3.55 in postmenopausal women) and second cancers (HR=1.49, 95% CI=1.06–2.10). Mortality increased with obesity; when partitioned by likely cause, those with BMI ≥ 35.0 had greater risk of non-breast cancer mortality (HR=1.86, 95% CI=1.21–2.84). Relative to whites and adjusted for BMI, black women had greater hazard for DFS (HR=1.17, 95% CI=1.00–1.38), CBC (HR=1.37, 95% CI=0.94–1.99), and non-breast cancer deaths (HR=2.10, 95% CI=1.45–3.03); risk for deaths likely due to breast cancer was closer to that in whites (HR=1.18; 95% CI=0.93–1.50).ConclusionsFor women with node-negative, ER-breast cancer from clinical trials, obesity did not increase recurrence risk, but was associated with greater risk for second cancers, CBC, and mortality, particularly non-breast cancer deaths. Less favorable prognosis for black women persists in clinical trials, and is in part attributable to non-breast cancer outcomes.

The effect of access and satisfaction on regular mammogram and Papanicolaou test screening in a multiethnic population.

Background:Access and satisfaction are determinants of preventive service use, but few studies have evaluated their role in breast and cervical cancer screening in multiethnic populations. Objectives:We sought to investigate the relationship between race/ethnicity, access, satisfaction, and regular mammogram and Papanicolaou test receipt in 5 racial/ethnic groups. Research Design:We conducted a telephone survey in 4 languages. Subjects:Our subjects were black, Chinese, Filipino, Latino, or white women aged 40 to 74 residing in Alameda County, California. Measures:Outcome: regular mammograms (last test within 15 months and another within 2 years prior) and Papanicolaou tests (36 months and 3 years, respectively). Independent: race/ethnicity, sociodemographic variables, access (health insurance, usual site of care, regular doctor, check-up within 12 months, knowing where to go, copayment for tests), and satisfaction (overall satisfaction scale, waiting times, test-related pain and embarrassment, test satisfaction). Results:Among women who had ever had a mammogram or Papanicolaou test, 54% and 77%, respectively, received regular screening. In multivariate analyses, regular mammography was positively associated with increased age (odds ratio [OR] 1.05 per year), private insurance (OR 1.7), check-up in the past year (OR 2.3), knowing where to go for mammography (OR 3.0), and greater satisfaction with processes of care (OR 1.04 per unit), and negatively with not knowing copayment amount (OR 0.4), too many forms to fill out (OR 0.5), embarrassment at the last mammogram (OR 0.6), and Filipino race/ethnicity. Similar results were found for regular Papanicolaou tests. Conclusions:Access and satisfaction are important predictors of screening but do little to explain racial/ethnic variation. Tailored interventions to improve regular mammography and Papanicolaou test screening in multiethnic populations are needed.

Ethical and practical challenges of sharing data from genome-wide association studies: The eMERGE Consortium experience

In 2007, the National Human Genome Research Institute (NHGRI) established the Electronic MEdical Records and GEnomics (eMERGE) Consortium (www.gwas.net) to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. One of the major ethical and administrative challenges for the eMERGE Consortium has been complying with existing data-sharing policies. This paper discusses the challenges of sharing genomic data linked to health information in the electronic medical record (EMR) and explores the issues as they relate to sharing both within a large consortium and in compliance with the National Institutes of Health (NIH) data-sharing policy. We use the eMERGE Consortium experience to explore data-sharing challenges from the perspective of multiple stakeholders (i.e., research participants, investigators, and research institutions), provide recommendations for researchers and institutions, and call for clearer guidance from the NIH regarding ethical implementation of its data-sharing policy.

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

The Kaiser Permanente (KP) Research Program on Genes, Environment and Health (RPGEH), in collaboration with the University of California—San Francisco, undertook genome-wide genotyping of >100,000 subjects that constitute the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. The project, which generated >70 billion genotypes, represents the first large-scale use of the Affymetrix Axiom Genotyping Solution. Because genotyping took place over a short 14-month period, creating a near-real-time analysis pipeline for experimental assay quality control and final optimized analyses was critical. Because of the multi-ethnic nature of the cohort, four different ethnic-specific arrays were employed to enhance genome-wide coverage. All assays were performed on DNA extracted from saliva samples. To improve sample call rates and significantly increase genotype concordance, we partitioned the cohort into disjoint packages of plates with similar assay contexts. Using strict QC criteria, the overall genotyping success rate was 103,067 of 109,837 samples assayed (93.8%), with a range of 92.1–95.4% for the four different arrays. Similarly, the SNP genotyping success rate ranged from 98.1 to 99.4% across the four arrays, the variation depending mostly on how many SNPs were included as single copy vs. double copy on a particular array. The high quality and large scale of genotype data created on this cohort, in conjunction with comprehensive longitudinal data from the KP electronic health records of participants, will enable a broad range of highly powered genome-wide association studies on a diversity of traits and conditions.

Breast cancer risk reduction options: awareness, discussion, and use among women from four ethnic groups.

Background: With recent advances in breast cancer risk reduction practices, it is increasingly important to assess both the breadth of and disparities in use across different racial/ethnic groups. Methods: We conducted telephone interviews with 1,700 women ages 40 to 74, from four racial/ethnic groups, without prior history of breast cancer, who received mammograms at one of five mammography facilities in San Francisco. Main outcomes measured included recognition of tamoxifen, raloxifene, genetic testing, and prophylactic surgery. Global indicators (recognition of any therapy, discussion of breast cancer risk) were developed from original outcome measures and analyzed using logistic regression. Results: Multivariate analyses indicate that race/ethnicity and interview language affected recognition of therapies and discussion of risk. White women were more likely than all other women to recognize any therapy and more likely than Asian-Americans to discuss risk. Women at high risk, who had a prior abnormal mammogram, who perceived themselves to be at high risk, or who were exposed to breast health information were more likely to discuss risk. Conclusions: Women are aware of preventive therapies, although discussion and use is limited. Interventions to increase use of therapies should focus on those at high risk. (Cancer Epidemiol Biomarkers Prev 2006;15(1):162–6)

Patients’ attitudes about the use of placebo treatments: telephone survey

Objective To examine the attitudes of US patients about the use of placebo treatments in medical care. Design One time telephone surveys. Setting Northern California. Participants 853 members of Kaiser Permanente Northern California, aged 18-75, who had been seen by a primary care provider for a chronic health problem at least once in the prior six months. Results The response rate was 53.4% (853/1598) of all members who were eligible to participate, and 73.2% (853/1165) of all who could be reached by telephone. Most respondents (50-84%) judged it acceptable for doctors to recommend placebo treatments under conditions that varied according to doctors’ level of certainty about the benefits and safety of the treatment, the purpose of the treatment, and the transparency with which the treatment was described to patients. Only 21.9% of respondents judged that it was never acceptable for doctors to recommend placebo treatments. Respondents valued honesty by physicians regarding the use of placebos and believed that non-transparent use could undermine the relationship between patients and physicians. Conclusions Most patients in this survey seemed favorable to the idea of placebo treatments and valued honesty and transparency in this context, suggesting that physicians should consider engaging with patients to discuss their values and attitudes about the appropriateness of using treatments aimed at promoting placebo responses in the context of clinical decision making.

Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

The Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort includes DNA specimens extracted from saliva samples of 110,266 individuals. Because of its relationship to aging, telomere length measurement was considered an important biomarker to develop on these subjects. To assay relative telomere length (TL) on this large cohort over a short time period, we created a novel high throughput robotic system for TL analysis and informatics. Samples were run in triplicate, along with control samples, in a randomized design. As part of quality control, we determined the within-sample variability and employed thresholds for the elimination of outlying measurements. Of 106,902 samples assayed, 105,539 (98.7%) passed all quality control (QC) measures. As expected, TL in general showed a decline with age and a sex difference. While telomeres showed a negative correlation with age up to 75 years, in those older than 75 years, age positively correlated with longer telomeres, indicative of an association of longer telomeres with more years of survival in those older than 75. Furthermore, while females in general had longer telomeres than males, this difference was significant only for those older than age 50. An additional novel finding was that the variance of TL between individuals increased with age. This study establishes reliable assay and analysis methodologies for measurement of TL in large, population-based human studies. The GERA cohort represents the largest currently available such resource, linked to comprehensive electronic health and genotype data for analysis.