Heterogeneity in familial clustering of metabolic syndrome components in the multiethnic GENNID study.

OBJECTIVE: Metabolic syndrome (MetS) is defined by clustering of cardiometabolic components, which may be present in different combinations. The authors evaluated clustering in individuals and extended families within and across ancestry groups. METHODS: The prevalence of different combinations of MetS components (high fasting glucose, low high-density lipoprotein cholesterol, high triglycerides, high blood pressure, and abdominal obesity) was estimated in 1651 individuals (340 families) self-reporting as European American (EA), Hispanic/Mexican American (MA), African American (AA), and Japanese American (JA). Odds ratios were estimated using logistic regression with generalized estimating equations comparing individual MetS components, number, and combinations of components for each ancestry group versus EA. RESULTS: Clustering of all five components (Combination #16) was more prevalent in EA (29.9%) and MA (25.2%) individuals than in AA (18.7%) and JA (15.5%) individuals. Compared with EA individuals, AA individuals were 64% and 66% less likely to have high triglycerides and low high-density lipoprotein cholesterol, whereas JA individuals were 85% and 56% less likely to have abdominal obesity and high blood pressure, respectively. Compared with EA individuals, the odds of having two, four, or five components were at least 77% lower in JA individuals, whereas the odds of having three, four, or five components were at least 3.79 times greater in MA individuals. CONCLUSIONS: Understanding heterogeneity in MetS clustering may identify factors important in reducing health disparities.

Validation Study on Risk-Reduction Activities after Exposure to a Personalized Breast Cancer Risk-Assessment Education Tool in High-Risk Women in the WISDOM Study.

We performed a 318-participant validation study of an individualized risk assessment tool in women identified as having high- or highest-risk of breast cancer in the personalized arm of the Women Informed to Screen Depending on Measures of risk (WISDOM) trial. Per protocol, these women were educated about their risk and risk reducing options using the Breast Health Decisions (BHD) tool, which uses patient-friendly visuals and 8th grade reading level language to convey risk and prevention options. Prior to exposure to the educational tool, 4.7% of women were already taking endocrine risk reduction, 38.7% were reducing alcohol intake, and 62.6% were exercising. Three months after initial use of BHD, 8.4% of women who considered endocrine risk reduction, 33% of women who considered alcohol reduction, and 46% of women who considered exercise pursued the risk-reducing activities. Unlike lifestyle interventions which are under the control of the patient, additional barriers at the level of the healthcare provider may be impeding the targeted use of endocrine risk reduction medications in women with elevated breast cancer risk.

Development of the Successful Transitions Assessment Tool (STAT) for Crossover Youth (COY): Youth voice and expert feedback with a Delphi approach.

BACKGROUND: Crossover youth (COY) are involved with child welfare and/or the justice system and experience multifaceted challenges in their transition into adulthood. A literature review identified eight critical indicators of successful transitions for COY and the absence of a validated comprehensive assessment that is youth informed and culturally sensitive. OBJECTIVE: To develop a Successful Transitions Assessment Tool (STAT) that is informed by research, Critical Race Theory, and subject matter experts. PARTICIPANTS AND SETTING: Field experts were approached to review the initial STAT, developed from literature findings, using the Delphi approach; 13 experts completed the first round and nine completed the second round. Child welfare youth participated in a focus group and youth justice youth completed interviews; 10 youth aged 16 to 24 provided feedback. METHODS: A two-round Delphi study with experts used a survey link. The focus groups and interviews with youth experts were conducted virtually. Expert rankings in the examined areas were aggregated and qualitative data were thematically analyzed. RESULTS: Responding experts in both rounds of the Delphi process ranked the STAT highly, achieving scores of 16.8 and 16.4 of 20 possible points, respectively (consensus >80 %). No additional rounds were deemed necessary. All suggested tool clarifications were incorporated. Additional questions were added based on suggestions relevant to the eight critical domains. CONCLUSIONS: This innovative study created a single, brief, yet comprehensive assessment tool of eight key domains for successful transitions out of care settings, informed by experts through the Delphi approach and youth themselves.

Development and pilot of an online, personalized risk assessment tool for a breast cancer precision medicine trial.

Breast cancer risk reduction has been validated by large-scale clinical trials, but uptake remains low. A risk communication tool could provide personalized risk-reduction information for high-risk women. A low-literacy-friendly, visual, and personalized tool was designed as part of the Women Informed to Screen Depending On Measures of risk (WISDOM) study. The tool integrates genetic, polygenic, and lifestyle factors, and quantifies the risk-reduction from undertaking medication and lifestyle interventions. The development and design process utilized feedback from clinicians, decision-making scientists, software engineers, and patient advocates. We piloted the tool with 17 study participants, collecting quantitative and qualitative feedback. Overall, participants felt they better understood their personalized breast cancer risk, were motivated to reduce their risk, and considered lifestyle interventions. The tool will be used to evaluate whether risk-based screening leads to more informed decisions and higher uptake of risk-reduction interventions among those most likely to benefit.

Views of Cohort Study Participants about Returning Research Results in the Context of Precision Medicine.

BACKGROUND: The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research. METHODS: Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min. Topics explored in this study include which types of genetic test results participants of large biorepositories expect and would like to receive from research analyzing their samples, as well as thoughts on best practice for conducting this type of research. RESULTS: Cancer cases, controls, and first-degree relatives have differing views on what results they would like to receive from biorepository-based research. Participants across all groups attempted to balance the costs and benefits of returning individual research results. DISCUSSION: In the wake of precision medicine, it is important to describe the range of ways participants in large biorepositories both think and talk about the utilization of their specimens for genetics research.