Early implementation learnings on acceptability and feasibility of "V": a multi-level PrEP intervention designed with and for adolescent girls and young women in Zimbabwe.

INTRODUCTION: Adolescent girls and young women (AGYW) remain disproportionately affected by HIV in Zimbabwe. Several HIV prevention options are available, including oral tenofovir-based pre-exposure prophylaxis (PrEP), however AGYW face unique barriers to PrEP uptake and continuation and novel approaches are therefore needed to empower AGYW to use PrEP. The objective of this study was to characterize early learnings from implementing a multi-level intervention consisting of fashionable branding (including a "V Starter Kit"), service integration, and peer education and support throughout a young woman's journey using oral PrEP across four phases of implementation, from creating demand, preparing for PrEP, initiation of PrEP, and adherence to PrEP. METHODS: A mixed methods implementation research study was undertaken, including site observations and interviews to explore the acceptability of "V" and its relevance to target users, as well as the feasibility of integrating "V" with existing service delivery models. Interviews (n = 46) were conducted with healthcare workers, Brand Ambassadors, and young women purposively sampled from four implementation sites. Interview data was analyzed thematically using the framework method for qualitative data management and analysis. Project budgets and invoices were used to compile unit cost and procurement data for all "V" materials. RESULTS: "V" was acceptable to providers and young women due to attractive branding coupled with factual and thought-provoking messaging, establishing "a girl code" for discussing PrEP, and addressing a gap in communications materials. "V" was also feasible to integrate into routine service provision and outreach, alongside other services targeting AGYW. Cost for the "V" branded materials ranked most essential-FAQ insert, pill case, makeup bag, reminder sticker-were $7.61 per AGYW initiated on PrEP. CONCLUSION: "V" is a novel approach that is an acceptable and feasible multi-level intervention to improve PrEP access, uptake, and continuation among AGYW, which works through empowering AGYW to take control of their HIV prevention needs. In considering "V" for scale up in Zimbabwe, higher volume procurement and a customized lighter package of "V" materials, while still retaining V's core approach, should be explored.

Barriers to Working with Patients Who Misuse Opioids and Physician Burnout: Implications for Medical Education.

BACKGROUND: Physicians are on the front lines of the U.S. opioid epidemic, providing care in multiple treatment settings. Very little is known, however, about whether this experience has contributed to physician burnout. This information is critical for guiding efforts to expand the relatively low level of training on opioid misuse currently available in medical education. METHODS: We surveyed 408 board-certified physicians practicing in Ohio about their experiences working with patients who misuse opioids. We also collected quantitative measures of physicians' burnout and their level of contact with this patient population. We coded and analyzed open-ended responses and calculated a partial correlation between contact and burnout, controlling for relevant factors. RESULTS: Physicians experienced three primary barriers when working with patients who misuse opioids: inadequate knowledge and training, limited external resources and partnerships in their communities, and an incomplete context for understanding problematic patient behaviors. 70% of physicians experienced negative emotions when working with this patient population and 19% mentioned experiencing burnout specifically. Contact with patients who misuse opioids was significantly and positively associated with burnout scores. CONCLUSIONS: Our findings underscore the need for medical educators to take a proactive approach to equipping physicians with the knowledge, skills, and resources needed to effectively work with patients who misuse opioids.

Prevalence of iron deficiency in 62,685 women of seven race/ethnicity groups: The HEIRS Study.

BACKGROUND: Few cross-sectional studies report iron deficiency (ID) prevalence in women of different race/ethnicity and ages in US or Canada. MATERIALS AND METHODS: We evaluated screening observations on women who participated between 2001-2003 in a cross-sectional, primary care-based sample of adults ages ≥25 y whose observations were complete: race/ethnicity; age; transferrin saturation; serum ferritin; and HFE p.C282Y and p.H63D alleles. We defined ID using a stringent criterion: combined transferrin saturation <10% and serum ferritin <33.7 pmol/L (<15 µg/L). We compared ID prevalence in women of different race/ethnicity subgrouped by age and determined associations of p.C282Y and p.H63D to ID overall, and to ID in women ages 25-44 y with or without self-reported pregnancy. RESULTS: These 62,685 women included 27,079 whites, 17,272 blacks, 8,566 Hispanics, 7,615 Asians, 449 Pacific Islanders, 441 Native Americans, and 1,263 participants of other race/ethnicity. Proportions of women with ID were higher in Hispanics and blacks than whites and Asians. Prevalence of ID was significantly greater in women ages 25-54 y of all race/ethnicity groups than women ages ≥55 y of corresponding race/ethnicity. In women ages ≥55 y, ID prevalence did not differ significantly across race/ethnicity. p.C282Y and p.H63D prevalence did not differ significantly in women with or without ID, regardless of race/ethnicity, age subgroup, or pregnancy. CONCLUSIONS: ID prevalence was greater in Hispanic and black than white and Asian women ages 25-54 y. p.C282Y and p.H63D prevalence did not differ significantly in women with or without ID, regardless of race/ethnicity, age subgroup, or pregnancy.

A mechanism for controlled access to GWAS data: experience of the GAIN Data Access Committee.

The Genetic Association Information Network (GAIN) Data Access Committee was established in June 2007 to provide prompt and fair access to data from six genome-wide association studies through the database of Genotypes and Phenotypes (dbGaP). Of 945 project requests received through 2011, 749 (79%) have been approved; median receipt-to-approval time decreased from 14 days in 2007 to 8 days in 2011. Over half (54%) of the proposed research uses were for GAIN-specific phenotypes; other uses were for method development (26%) and adding controls to other studies (17%). Eight data-management incidents, defined as compromises of any of the data-use conditions, occurred among nine approved users; most were procedural violations, and none violated participant confidentiality. Over 5 years of experience with GAIN data access has demonstrated substantial use of GAIN data by investigators from academic, nonprofit, and for-profit institutions with relatively few and contained policy violations. The availability of GAIN data has allowed for advances in both the understanding of the genetic underpinnings of mental-health disorders, diabetes, and psoriasis and the development and refinement of statistical methods for identifying genetic and environmental factors related to complex common diseases.

Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.

Over the past several years, genome-wide association studies (GWAS) have succeeded in identifying hundreds of genetic markers associated with common diseases. However, most of these markers confer relatively small increments of risk and explain only a small proportion of familial clustering. To identify obstacles to future progress in genetic epidemiology research and provide recommendations to NIH for overcoming these barriers, the National Cancer Institute sponsored a workshop entitled "Next Generation Analytic Tools for Large-Scale Genetic Epidemiology Studies of Complex Diseases" on September 15-16, 2010. The goal of the workshop was to facilitate discussions on (1) statistical strategies and methods to efficiently identify genetic and environmental factors contributing to the risk of complex disease; and (2) how to develop, apply, and evaluate these strategies for the design, analysis, and interpretation of large-scale complex disease association studies in order to guide NIH in setting the future agenda in this area of research. The workshop was organized as a series of short presentations covering scientific (gene-gene and gene-environment interaction, complex phenotypes, and rare variants and next generation sequencing) and methodological (simulation modeling and computational resources and data management) topic areas. Specific needs to advance the field were identified during each session and are summarized.

Modulation of the BP response to diet by genes in the renin-angiotensin system and the adrenergic nervous system.

BACKGROUND: Essential hypertension results from the interaction of several genetic and environmental factors. Identification of genetic factors that modulate blood pressure (BP) response to interventions can lead to improved strategies for prevention and control. The purpose of this study was to identify genes that modulate BP response to dietary interventions. METHODS: We used data and samples collected in two randomized feeding studies to determine the extent to which genetic architecture is associated with the effect on BP of sodium intake and the Dietary Approaches to Stop Hypertension (DASH) dietary pattern. Participants in both trials were adults with above-optimal BP or unmedicated stage 1 hypertension. Genomic DNA was typed for several candidate genes. RESULTS: The effect of sodium intake on BP differed by genotype at the angiotensinogen, ß2-adrenergic receptor, and kallikrein loci. The effect of DASH dietary pattern on BP differed by genotype at the ß2-adrenergic receptor locus. CONCLUSIONS: These findings have implications for understanding the mechanism(s) through which diet affects BP, the heterogeneity of these effects, and the extent to which dietary interventions can modulate genetic predisposition.

Quality control and quality assurance in genotypic data for genome-wide association studies.

Genome-wide scans of nucleotide variation in human subjects are providing an increasing number of replicated associations with complex disease traits. Most of the variants detected have small effects and, collectively, they account for a small fraction of the total genetic variance. Very large sample sizes are required to identify and validate findings. In this situation, even small sources of systematic or random error can cause spurious results or obscure real effects. The need for careful attention to data quality has been appreciated for some time in this field, and a number of strategies for quality control and quality assurance (QC/QA) have been developed. Here we extend these methods and describe a system of QC/QA for genotypic data in genome-wide association studies (GWAS). This system includes some new approaches that (1) combine analysis of allelic probe intensities and called genotypes to distinguish gender misidentification from sex chromosome aberrations, (2) detect autosomal chromosome aberrations that may affect genotype calling accuracy, (3) infer DNA sample quality from relatedness and allelic intensities, (4) use duplicate concordance to infer SNP quality, (5) detect genotyping artifacts from dependence of Hardy-Weinberg equilibrium test P-values on allelic frequency, and (6) demonstrate sensitivity of principal components analysis to SNP selection. The methods are illustrated with examples from the "Gene Environment Association Studies" (GENEVA) program. The results suggest several recommendations for QC/QA in the design and execution of GWAS.

Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.

Heritability is the proportion of observed variation in a trait among individuals in a population that is attributable to hereditary factors. The Hemochromatosis and Iron Overload Screening family study estimated heritability of serum iron measures. Probands were HFE C282Y homozygotes or non-C282Y homozygotes with elevated transferrin saturation (TS > 50%, men; TS > 45%, women) and serum ferritin concentration (SF > 300 microg/L, men; SF > 200 microg/L, women). Heritability (h(2)) was estimated by variance component analysis of TS, natural logarithm (ln) of SF, and unsaturated iron-binding capacity (UIBC). Participants (N = 942) were 77% Caucasians, 10% Asians, 8% Hispanics, and 5% other race/ethnicities. Average age (SD) was 49 (16) years; 57% were female. For HFE C282Y homozygote probands and their family members, excluding variation due to HFE C282Y and H63D genotype and measured demographic and environmental factors, the residual h(2) (SE) was 0.21 (0.07) for TS, 0.37 (0.08) for ln SF, and 0.34 (0.08) for UIBC (all P < 0.0004 for comparisons with zero). For the non-C282Y homozygote proband group, residual h(2) was significant with a value of 0.64 (0.26) for ln SF (P = 0.0096). In conclusion, serum iron measures have significant heritability components, after excluding known genetic and nongenetic sources of variation.

The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions.

Genome-wide association studies (GWAS) have emerged as powerful means for identifying genetic loci related to complex diseases. However, the role of environment and its potential to interact with key loci has not been adequately addressed in most GWAS. Networks of collaborative studies involving different study populations and multiple phenotypes provide a powerful approach for addressing the challenges in analysis and interpretation shared across studies. The Gene, Environment Association Studies (GENEVA) consortium was initiated to: identify genetic variants related to complex diseases; identify variations in gene-trait associations related to environmental exposures; and ensure rapid sharing of data through the database of Genotypes and Phenotypes. GENEVA consists of several academic institutions, including a coordinating center, two genotyping centers and 14 independently designed studies of various phenotypes, as well as several Institutes and Centers of the National Institutes of Health led by the National Human Genome Research Institute. Minimum detectable effect sizes include relative risks ranging from 1.24 to 1.57 and proportions of variance explained ranging from 0.0097 to 0.02. Given the large number of research participants (N>80,000), an important feature of GENEVA is harmonization of common variables, which allow analyses of additional traits. Environmental exposure information available from most studies also enables testing of gene-environment interactions. Facilitated by its sizeable infrastructure for promoting collaboration, GENEVA has established a unified framework for genotyping, data quality control, analysis and interpretation. By maximizing knowledge obtained through collaborative GWAS incorporating environmental exposure information, GENEVA aims to enhance our understanding of disease etiology, potentially identifying opportunities for intervention.

Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study.

BACKGROUND: The HEmochromatosis and IRon Overload Screening (HEIRS) Study provided data on a racially, ethnically and geographically diverse cohort of participants in North America screened from primary care populations. METHODS: A total of 101,168 participants were screened by testing for HFE C282Y and H63D mutations, and measuring serum ferritin concentration and transferrin saturation. In the present review, lessons from the HEIRS Study are highlighted in the context of the principles of screening for a medical disease as previously outlined by the World Health Organization. RESULTS: Genetic testing is well accepted, with minimal risk of discrimination. Transferrin saturation has high biological variability and relatively low sensitivity to detect HFE C282Y homozygotes, which limits its role as a screening test. Symptoms attributable to HFE C282Y homozygosity are no more common in individuals identified by population screening than in control subjects. CONCLUSIONS: Generalized population screening in a primary care population as performed in the HEIRS Study is not recommended. There may be a role for focused screening in Caucasian men, with some debate regarding genotyping followed by phenotyping, or phenotyping followed by genotyping.

Potential nonresponse bias in a clinical examination after initial screening using iron phenotyping and HFE genotyping in the hemochromatosis and iron overload screening study.

BACKGROUND: Little is known about the factors affecting participation in clinical assessments after HEmochromatosis and IRon Overload Screening. METHODS: Initial screening of 101,168 primary care patients in the HEmochromatosis and IRon Overload Screening study was performed using serum iron measures and hemochromatosis gene (HFE) genotyping. Using iron phenotypes and HFE genotypes, we identified 2256 cases and 1232 controls eligible to participate in a clinical examination. To assess the potential for nonresponse bias, we compared the sociodemographic, health status, and attitudinal characteristics of participants and nonparticipants using adjusted odds ratios (ORs) and 95% confidence interval (CI). RESULTS: Overall participation was 74% in cases and 52% in controls; in both groups, participation was highest at a health maintenance organization and lowest among those under 45 years of age (cases: OR = 0.68; 95% CI 0.53, 0.87; controls: OR = 0.59; 95% CI 0.44, 0.78). In controls only, participation was also lower among those over 65 years of age than the reference group aged 46-64 (OR = 0.64; 95% CI 0.47, 0.88). Among cases, participation was higher in HFE C282Y homozygotes (OR = 3.98; 95% CI 2.60, 6.09), H63D homozygotes (OR = 2.79; 95% CI 1.23, 6.32), and C282Y/H63D compound heterozygotes (OR = 1.82; 95% CI 1.03, 3.22) than in other genotypes, and lower among non-Caucasians and those who preferred a non-English language than in Caucasians and those who preferred English (p < 0.0001). CONCLUSIONS: Subjects with greatest risk to have iron overload (C282Y homozygotes; cases > or =45 years; Caucasians) were more likely to participate in a postscreening clinical examination than other subjects. We detected no evidence of strong selection bias.

Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening.

BACKGROUND: Patients with hemochromatosis may suffer organ damage from iron overload, often with serious clinical consequences. OBJECTIVE: To assess prevalences of self-reported symptoms and clinical signs and conditions in persons homozygous for the hemochromatosis gene (HFE) mutation (C282Y) identified by screening. METHODS: Participants were adults 25 years of age or older enrolled in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. C282Y homozygotes (n=282) were compared with control participants without the HFE C282Y or H63D alleles (ie, wild type/wild type; n=364). RESULTS: Previously diagnosed C282Y homozygotes and newly diagnosed homozygotes with elevated serum ferritin levels had higher prevalences of certain symptoms such as chronic fatigue (OR 2.8; 95% CI 1.34 to 5.95, and OR 2.0; 95% CI 1.07 to 3.75, respectively), and had more hyperpigmentation on physical examination (OR 4.7; 95% CI 1.50 to 15.06, and OR 3.7; 95% CI 1.10 to 12.16, respectively) and swelling or tenderness of the second and third metacarpophalangeal joints (OR 4.2; 95% CI 1.37 to 13.03, and OR 3.3; 95% CI 1.17 to 9.49, respectively) than control subjects. Joint stiffness was also more common among newly diagnosed C282Y homozygotes with elevated serum ferritin than among control subjects (OR 2.7; 95% CI 1.38 to 5.30). However, the sex- and age-adjusted prevalences of self-reported symptoms and signs of liver disease, heart disease, diabetes and most other major clinical manifestations of hemochromatosis were similar in C282Y homozygotes and control subjects. CONCLUSIONS: Some symptoms and conditions associated with hemochromatosis were more prevalent among C282Y homozygotes identified by screening than among control subjects, but prevalences of most outcomes were similar in C282Y homozygotes and controls in this primary care-based study.

Accuracy of family history of hemochromatosis or iron overload: the hemochromatosis and iron overload screening study.

BACKGROUND & AIMS: The aim of this study was to assess the analytic validity of self-reported family history of hemochromatosis or iron overload. METHODS: A total of 141 probands, 549 family members, and 641 controls participated in the primary care Hemochromatosis and Iron Overload Screening Study. Participants received a postscreening clinical examination and completed questionnaires about personal and family histories of hemochromatosis or iron overload, arthritis, diabetes, liver disease, and heart disease. We evaluated sensitivities and specificities of proband-reported family history, and concordance of HFE genotype C282Y/C282Y in probands and siblings who reported having hemochromatosis or iron overload. RESULTS: The sensitivities of proband-reported family history ranged from 81.4% for hemochromatosis or iron overload to 18.4% for liver disease; specificities for diabetes, liver disease, and heart disease were greater than 94%. Hemochromatosis or iron overload was associated with a positive family history across all racial/ethnic groups in the study (odds ratio, 14.53; 95% confidence intervals, 7.41-28.49; P < .0001) and among Caucasians (odds ratio, 16.98; 95% confidence intervals, 7.53-38.32; P < .0001). There was 100% concordance of HFE genotype C282Y/C282Y in 6 probands and 8 of their siblings who reported having hemochromatosis or iron overload. CONCLUSIONS: Self-reported family history of hemochromatosis or iron overload can be used to identify individuals whose risk of hemochromatosis or iron overload and associated conditions is increased. These individuals could benefit from further evaluation with iron phenotyping and HFE mutation analysis.

Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population.

How often elevated serum ferritin in primary-care patients reflects increased iron stores (normally 0.8 g in men, 0.4 g in women) is not known. The Hereditary Hemochromatosis and Iron Overload Screening (HEIRS) study screened 101,168 primary-care participants (44% Caucasians, 27% African-Americans, 14% Asians/Pacific Islanders, 13% Hispanics, 2% others). Follow-up clinical evaluation was performed in 302 of 333 HFE C282Y homozygotes regardless of iron measures and 1,375 of 1,920 nonhomozygotes with serum ferritin >300 microg/L (men), >200 microg/L (women) and transferrin saturation >50% (men), >45% (women). Quantitative phlebotomy was conducted in 122 of 175 C282Y homozygotes and 122 of 1,102 nonhomozygotes with non-transfusional serum ferritin elevation at evaluation. The estimated prevalence in the Caucasian population of C282Y homozygotes with serum ferritin >900 microg/L at evaluation was 20 per 10,000 men and 4 per 10,000 women; this constellation was predictive of iron stores >4 g in men and >2 g in women. The estimated prevalence per 10,000 of non-C282Y homozygotes with serum ferritin >900 microg/L at evaluation was 7 among Caucasians, 13 among Hispanics, 20 among African Americans, and 38 among Asians and Pacific Islanders, and this constellation was predictive of iron stores >2 g but <4 g. In conclusion, serum ferritin >900 microg/L after initial elevations of both serum ferritin and transferrin saturation is predictive of mildly increased iron stores in multiple ethnic populations regardless of HFE genotype. Serum ferritin >900 microg/L in male C282Y homozygotes is predictive of moderately increased iron stores.

Positive, negative, and disparate--women's differing long-term psychosocial experiences of bilateral or contralateral prophylactic mastectomy.

Because of recent studies showing strong prevention benefit and acceptable psychosocial outcomes, more women may be considering prophylactic mastectomy. A growing literature shows some positive psychosocial outcomes for women with bilateral prophylactic mastectomy, but less is known about women with contralateral prophylactic mastectomy. Several surveys have shown that a large majority of women with prophylactic mastectomy report satisfaction with their decisions to have the procedure when asked in a quantitative, closed-ended format. We sought to explore the nuances of women's satisfaction with the procedure using a qualitative, open-ended format. We included open-ended questions as part of a mailed survey on psychosocial outcomes of prophylactic mastectomy. The research team coded and analyzed these responses using qualitative methods. We used simple descriptive statistics to compare the demographics of the entire survey sample to those women who answered the open-ended questions; the responses to the open- and closed-ended satisfaction questions, and the responses of women with bilateral and contralateral prophylactic mastectomy. Seventy-one percent of women with prophylactic mastectomy responded to the survey and 48% provided open-ended responses about psychosocial outcomes. Women's open-ended responses regarding psychosocial outcomes could be coded into one of three general categories--positive, negative, and disparate. In the subgroup of women with both open- and closed-ended responses, over 70% of women providing negative and disparate comments to the open-ended question simultaneously indicated satisfaction on a closed-ended question. Negative and disparate open-ended responses were twice as common among women with bilateral prophylactic mastectomy (52%) than women with contralateral prophylactic mastectomy (26%). These findings suggest that even among women who report general satisfaction with their decision to have prophylactic mastectomy via closed-ended survey questions, lingering negative psychosocial outcomes can remain, particularly among women with bilateral prophylactic mastectomy. This dichotomy could be an important factor to discuss in counseling women considering the procedure.

Bivariate mixture modeling of transferrin saturation and serum ferritin concentration in Asians, African Americans, Hispanics, and whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.

Bivariate mixture modeling was used to analyze joint population distributions of transferrin saturation (TS) and serum ferritin concentration (SF) measured in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Four components (C1, C2, C3, and C4) with successively age-adjusted increasing means for TS and SF were identified in data from 26,832 African Americans, 12,620 Asians, 12,264 Hispanics, and 43,254 whites. The largest component, C2, had normal mean TS (21% to 26% for women, 29% to 30% for men) and SF (43-82 microg/L for women, 165-242 microg/L for men), which consisted of component proportions greater than 0.59 for women and greater than 0.68 for men. C3 and C4 had progressively greater mean values for TS and SF with progressively lesser component proportions. C1 had mean TS values less than 16% for women (<20% for men) and SF values less than 28 microg/L for women (<47 microg/L for men). Compared with C2, adjusted odds of iron deficiency were significantly greater in C1 (14.9-47.5 for women, 60.6-3530 for men), adjusted odds of liver disease were significantly greater in C3 and C4 for African-American women and all men, and adjusted odds of any HFE mutation were increased in C3 (1.4-1.8 for women, 1.2-1.9 for men) and in C4 for Hispanic and white women (1.5 and 5.2, respectively) and men (2.8 and 4.7, respectively). Joint mixture modeling identifies a component with lesser SF and TS at risk for iron deficiency and 2 components with greater SF and TS at risk for liver disease or HFE mutations. This approach can identify populations in which hereditary or acquired factors influence metabolism measurement.

Performance of the U.S. Office of Management and Budget's Revised Race and Ethnicity Categories in Asian Populations*

OBJECTIVES: The U.S. Office of Management and Budget (OMB) guidelines for collecting and reporting race and ethnicity information recently divided the "Asian or Pacific Islander" category into "Asian" and "Native Hawaiian or Other Pacific Islander". The OMB's decision to disaggregate the "Asian or Pacific Islander" category was the first step toward providing these communities with information to better serve their needs. However, whether individuals who formerly made up the combined group categorize themselves as the new guidelines intend is a question analyzed in this report. METHODS: A subset of adults participating in the Hemochromatosis and Iron Overload Screening Study completed both the OMB-minimum and the expanded race and ethnicity measure used in the National Health Interview Survey. We compared responses on the expanded measure contained within the OMB "Asian" definition (Filipino, Korean, Vietnamese, Japanese, Asian Indian, Chinese, and/or Other Asian) to "Asian" responses on the OMB-minimum measure. RESULTS: Mixed heritage Asians less often marked "Asian". Among mixed heritage Japanese, Chinese, and Filipinos, 27%, 49%, and 52% did not mark "Asian" on the OMB measure, respectively. Eleven percent of single-heritage Filipinos did not mark "Asian." CONCLUSIONS: Many individuals formerly making up the combined "Asian or Pacific Islander" group do not categorize themselves as the revised OMB guidelines intend. This is particularly evident among Filipinos and among Asians of mixed heritage. This research illuminates the reliability and utility of the broad "Asian" category and points to possible consequences of collapsing groups into a single category, i.e., missed information and/or erroneous generalization.

What women wish they knew before prophylactic mastectomy.

Although prophylactic mastectomy significantly reduces the incidence and recurrence of breast cancer, little is known about women's information needs before the procedure. We surveyed 967 women, from 6 healthcare systems, with bilateral or contralateral prophylactic mastectomy performed between 1979 and 1999. There were 2 open-ended questions: "What one thing do you wish you had known before your prophylactic mastectomy" and "Is there anything else you would like to share with us?" Three researchers categorized responses, and informational needs were ascertained. Seventy-one percent (684 women) responded, of which 81% answered one or both open-ended questions. There were 386 comments (made by 293 women) that related to information needs; 79% of women had bilateral prophylactic mastectomy and 58% had contralateral prophylactic mastectomy. Most concerns (69%) were related to reconstruction: the longevity; look and feel of implants, pain, numbness, scarring, and reconstruction options. Many women wished they had seen photographs to better prepare them for the final result. Our findings suggest that information needs of many women undergoing prophylactic mastectomy, particularly those selecting bilateral prophylactic mastectomy, have not been sufficiently addressed. Clinicians and health educators should be aware of patient needs and must counsel women accordingly.

New models of collaboration in genome-wide association studies: the Genetic Association Information Network.

The Genetic Association Information Network (GAIN) is a public-private partnership established to investigate the genetic basis of common diseases through a series of collaborative genome-wide association studies. GAIN has used new approaches for project selection, data deposition and distribution, collaborative analysis, publication and protection from premature intellectual property claims. These demonstrate a new commitment to shared scientific knowledge that should facilitate rapid advances in understanding the genetics of complex diseases.