Short sleep duration and interest in sleep improvement in a multi-ethnic cohort of diverse women participating in a community-based wellness intervention: an unmet need for improvement.

BACKGROUND: Disparities in sleep duration are a modifiable contributor to increased risk for cardiometabolic disorders in communities of color. We examined the prevalence of short sleep duration and interest in improving sleep among a multi-ethnic sample of women participating in a culturally tailored wellness coaching program and discussed steps to engage communities in sleep health interventions. METHODS: Secondary analysis of data from a randomized trial were used. The wellness coaching trial utilized a Community-Based Participatory Research (CBPR) approach. Data were from the baseline survey and baseline wellness coaching notes. Short sleep duration was defined as < 7 h of self-reported sleep. Participants were prompted to set a goal related to healthy eating/physical activity and had the opportunity to set another goal on any topic of interest. Those who set a goal related to improving sleep or who discussed a desire to improve sleep during coaching were classified as having an interest in sleep improvement. Analyses utilized multivariable models to evaluate factors contributing to short sleep and interest in sleep improvement. We present our process of discussing results with community leaders and health workers. RESULTS: A total of 485 women of color participated in the study. Among these, 199 (41%) reported short sleep duration. In adjusted models, Blacks/African Americans and Native Hawaiians/Pacific Islanders had higher odds of reporting < 7 h of sleep than Hispanics/Latinas. Depression symptoms and self-reported stress management scores were significantly associated with short sleep duration. Interest in sleep improvement was noted in the wellness coaching notes of 52 women (10.7%); sleep was the most common focus of goals not related to healthy eating/physical activity. African Immigrants/Refugees and African Americans were less likely to report interest in sleep improvement. Community leaders and health workers reported lack of awareness of the role of sleep in health and discussed challenges to obtaining adequate sleep in their communities. CONCLUSION: Despite the high prevalence of short sleep duration, interest in sleep improvement was generally low. This study highlights a discrepancy between need and interest, and our process of community engagement, which can inform intervention development for addressing sleep duration among diverse women.

Exploring the impact of virtual SPIKES training on genetic counselors' confidence to deliver difficult news.

Delivering difficult news is a common occurrence in genetic counseling. This is evidenced by widespread instruction among genetic counseling programs. There is a disconnect in the confidence level of being able to deliver difficult news (DDN) following educational training across healthcare disciplines. Other healthcare professions have addressed this issue with simulation-based training based on the SPIKES protocol, a stepwise process for delivering difficult news. To our knowledge, there is limited research that investigates the impact of simulation-based training in delivering difficult news for genetic counselors. Our aim was to develop simulation-based training in how to deliver difficult news for genetic counselors and analyze the extent to which it increased their confidence to deliver difficult news. Board-certified genetic counselors from all specialties were recruited to participate in a 2-h training session which included the opportunity to practice delivering difficult news. We collected self-reported confidence scores in each of the SPIKES steps from 16 genetic counselors pre- and post-intervention. Participants answered open-ended evaluations about the program's strengths, weaknesses, and gaps in delivering difficult news content. Almost all participants (N = 15) stated that they had gained confidence in delivering difficult news following training completion. Confidence significantly improved in four of seven SPIKES steps. Participants found strengths of the training program to be in their ability to practice with a simulated patient, to reference concrete examples, and to follow the program easily. The results of this study suggest that post-graduate training in how to deliver difficult news using the SPIKES protocol may strengthen genetic counselors' confidence in performing this important skill.

Parents' decision-making for their foetus or neonate with a severe congenital heart defect.

BACKGROUND: Parents who receive a diagnosis of a severe, life-threatening CHD for their foetus or neonate face a complex and stressful decision between termination, palliative care, or surgery. Understanding how parents make this initial treatment decision is critical for developing interventions to improve counselling for these families. METHODS: We conducted focus groups in four academic medical centres across the United States of America with a purposive sample of parents who chose termination, palliative care, or surgery for their foetus or neonate diagnosed with severe CHD. RESULTS: Ten focus groups were conducted with 56 parents (Mage = 34 years; 80% female; 89% White). Results were constructed around three domains: decision-making approaches; values and beliefs; and decision-making challenges. Parents discussed varying approaches to making the decision, ranging from relying on their "gut feeling" to desiring statistics and probabilities. Religious and spiritual beliefs often guided the decision to not terminate the pregnancy. Quality of life was an important consideration, including how each option would impact the child (e.g., pain or discomfort, cognitive and physical abilities) and their family (e.g., care for other children, marriage, and career). Parents reported inconsistent communication of options by clinicians and challenges related to time constraints for making a decision and difficulty in processing information when distressed. CONCLUSION: This study offers important insights that can be used to design interventions to improve decision support and family-centred care in clinical practice.

Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives.

PURPOSE: Death from suicide has an estimated heritability of ~50%. Research may soon allow calculation of polygenic risk scores (PRS) for suicide death, which could be marketed directly to consumers. This raises ethical concerns. Understanding how consumers will utilize this information is urgent. METHODS: We conducted three focus groups involving suicide attempt survivors ("survivors") and family members of suicide decedents ("family members") to gauge their reactions to this technology. Questions focused on positive and negative implications of PRS results. Qualitative research methods were used to summarize studio results. RESULTS: Eight survivors and 13 family members participated. Both groups postulated benefits of suicide PRS, including prevention and reduced stigma. Their concerns ranged from increased stigma to adverse psychological effects. They suggested that suicide PRS should be accompanied by extensive education and counseling. Participants experienced no adverse effects. CONCLUSION: Many ethical, legal, and social implications of genetic testing for suicide risk are highly salient to community stakeholders. Our participants hoped that suicide PRS could have significant individual and community-level benefits, but had concerns about effects in several domains, including stigma, access to insurance and employment, and increased anxiety and depression.

Diverse caregivers' HPV vaccine-related awareness and knowledge.

Objectives: To assess factors associated with HPV vaccine-related awareness and knowledge among caregivers of adolescents from five ethnic community groups in Utah.Design: For this community-based participatory research study, we surveyed N = 228 caregivers of teens aged 11-17 years from African American, African refugee, American Indian/Alaskan Native, Hispanic/Latino, and Native Hawaiian/Pacific Islander community groups in Utah about their HPV vaccine awareness and knowledge.Results: Participants exhibited high awareness of cervical cancer (71.05%), moderate awareness of HPV (53.95%), and low awareness of the HPV vaccine (46.49%). HPV vaccine-related knowledge was mostly worse, with fewer than half the participants reporting knowing that HPV can cause cervical cancer (46.93%), that most people are infected with HPV at some point in their lives (28.95%), that HPV is asymptomatic in females (36.40%) and males (37.28%), that the HPV vaccine is recommended for adolescent females (41.67%) and males (36.40%), and that the HPV vaccine requires more than one dose (27.19%). HPV vaccine-related awareness and knowledge were significantly associated with race/ethnicity, educational attainment, income, occupation, birthplace, parents' birthplace, English usage, health insurance coverage, type of health insurance, and child having a primary care provider (all p < 0.05). HPV vaccine-related knowledge (p < 0.05) and awareness (p < 0.05) of caregivers were associated with a child in the household receiving the HPV vaccine.Conclusion: Our findings indicate a need to develop educational interventions in collaboration with diverse communities in Utah. We underscore the importance of promoting knowledge about the existence of the HPV vaccine, as well as deeper HPV vaccine-related issues (e.g. HPV risks, treatment, and recommendations).

Ethical concerns relating to genetic risk scores for suicide.

Genome-wide association studies (GWAS) provide valuable information in research contexts regarding genomic changes that contribute to risks for complex psychiatric conditions like major depressive disorder. GWAS results can be used to calculate polygenic risk scores (PRS) for psychiatric conditions, such as bipolar disorder or schizophrenia, as well as for other traits, such as obesity or hypertension. Private companies that provide direct-to-consumer (DTC) genetic testing sometimes report PRS for a variety of traits. Recently, the first well-powered GWAS study for suicide death was published. PRS reports that claim to assess suicide risk are therefore likely to appear soon in the DTC setting. We describe ethical concerns regarding the commercial use of GWAS results related to suicide. We identify several issues that must be addressed before PRS for suicide risk is made available to the public through DTC: (a) the potential for misinterpretation of results, (b) consumers' perceptions about determinism and behavior change, (c) potential contributions to stigma, discrimination, and health disparities; and (d) ethical problems regarding the testing of children and vulnerable adults. Tests for genetic prediction of suicidality may eventually have clinical significance, but until then, the potential for individual and public harm significantly outweighs any potential benefit. Even if genetic prediction of suicidality improves significantly, information about genetic risk scores must be distributed cautiously, with genetic counseling, and with adequate safeguards.

Diverse Families' Experiences with HPV Vaccine Information Sources: A Community-Based Participatory Approach.

Current sources of publicly available human papillomavirus (HPV) information may not adequately meet the needs of diverse families. This study sought to describe associations between sociodemographic and acculturation factors, and sources of HPV information among diverse parents and caregivers. Community organizations purposively recruited participants from African American, African refugee, Hispanic/Latino, American Indian, and Native Hawaiian and Pacific Islander communities for a 21-item survey (N = 228). Ninenty-three of these participants also participated in ten focus groups conducted in three languages. Descriptive statistics and Fishers' Exact Test for Count Data were produced and triangulated with focus group data to provide additional context. Overall, HPV vaccine awareness and knowledge in the five communities was low. This study found that a greater proportion of lower-acculturated participants had heard of HPV through personal networks (foreign-born = 50 % vs US-born = 30 %, p < 0.05; medium acculturation = 60 % vs high acculturation = 26 %, p = 0.01), while greater proportions of US-born participants reported media sources (49 % vs foreign-born = 29 %, p < 0.05). Across communities, healthcare system sources were described as important and preferred sources of HPV information. Hearing about the HPV vaccine from healthcare settings was significantly associated with increased accuracy in HPV vaccine knowledge (p < 0.05). Communities described a need for more in-depth information about the HPV vaccine, and culturally and linguistically appropriate educational materials. Culturally-competent delivery of HPV information through the healthcare system sources may be important in improving knowledge and acceptability of the HPV vaccine among diverse families.

Microbes As Friends, Not Foes: Shifting the Focus from Pathogenesis to Symbiosis.

Until about two decades ago, the standard method of studying a microbe was to isolate it, grow it in culture, stain it, and examine it under a microscope. Today, new genomic tools are helping expand our view of the microbial world. Instead of viewing them as "germs" to be eliminated, we are beginning to perceive our microbes as an extension of ourselves - an important organ with unique functions essential to our well-being. Scientists even came up with a new term, "microbiome," to define our microbes' genes as an important counterpart to our human genome. With new information about the human microbiome comes the challenge of shifting biology students' focus from casting microbes as pathogens toward appreciating microbes as symbionts. "The Human Microbiome," a curriculum supplement produced by the Genetic Science Learning Center, emphasizes that microbes living in and on our bodies perform neutral and beneficial functions, that human microbiota form thriving ecosystems, and that disruptions to our microbial ecosystems may have consequences. In this article, we describe the curriculum materials, provide strategies for incorporating this cutting-edge topic into biology classrooms, list connections to the Next Generation Science Standards, and report on recent research testing the curriculum supplement's effectiveness for student learning.

What parents want to know about the storage and use of residual newborn bloodspots.

Many state newborn screening programs retain residual newborn screening bloodspots for a variety of purposes including quality assurance, biomedical research, and forensic applications. This project was designed to determine the information that prospective parents want to know about this practice. Eleven focus groups were conducted in four states. Pregnant women and their partners and parents of young children (N = 128) were recruited from the general public. Focus group participants viewed two educational movies on newborn screening and DBS retention and use. Transcripts were analyzed with qualitative methods and the results were synthesized to identify key information items. We identified 14 categories of information from the focus groups that were synthesized into seven items prospective parents want to know about residual DBS. The items included details about storage, potential uses, risks and burdens, safeguards, anonymity, return of results, and parental choice. For those state programs that retain residual dried bloodspots, inclusion of the seven things parents want to know about residual dried bloodspots in educational materials may improve parental understanding, trust, and acceptance of the retention and use of stored bloodspots.

Beyond the Central Dogma: Bringing Epigenetics into the Classroom.

Epigenetics is the study of how external factors and internal cellular signals can lead to changes in the packaging and processing of DNA sequences, thereby altering the expression of genes and traits. Exploring the epigenome introduces students to environmental influences on our genes and the complexities of gene expression. A supplemental curriculum module developed by the Genetic Science Learning Center (GSLC) at the University of Utah brings epigenetics to high school and undergraduate classrooms through a range of online and paper-based activities. We describe these activities and provide strategies for incorporating both introductory and more advanced materials that explore "cell memory," epigenetic inheritance, nutrition, and emerging connections between the epigenome and behavior. Finally, we outline recent reach on student learning gains using the GSLC's epigenetics module and provide connections to the Next Generation Science Standards.

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.

Genetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular accumulation of cystine. We attempted to assess the currently poorly characterized prevalence of cystinosis by employing a population genetics methodology. However, we encountered a significant challenge due to genetic variations across different populations, and the consideration of potential disparities in access to healthcare made our results inconclusive. Pathogenic CTNS variants were identified in a representative global population cohort using The Human Gene Mutation Database (HGMD) and the 1000 Genomes (1 KG) database. The c.124G>A (p.Val42Ile) variant was reported to be pathogenic based on an observation in the white population presenting with atypical phenotypes, but it would be reclassified as benign in the African ancestral group if applying the ACMG allele frequency guideline due to its high allele frequency specifically in this population. Inclusion or exclusion of this c.124G>A (p.Val42Ile) variant results in a significant change in estimated disease prevalence, which can impact the diagnosis and treatment of affected patients with a broad range of phenotypic presentations. This observation led us to postulate that pathogenic manifestations of the disease may be underdiagnosed due to variable expressivity and systemic inequities in access to care, specifically in the African subpopulation. We call for a more cautious and inclusive approach to achieve more equitable care across diverse populations.

Comparison of recruitment methodologies for clinical trials: Results from the time for living and caring (TLC) intervention study.

BACKGROUND: Recruiting participants for research studies is a critical yet challenging task. Community-engaged recruitment strategies have gained prominence as effective means to engage diverse populations and ensure the representativeness of study samples. This case study aims to investigate the cost and effectiveness of various recruitment methods in enhancing research participation. METHODS: A comparative approach was employed to assess the outcomes of five different recruitment strategies used in the Time for Living & Caring (TLC) research study. Data on recruitment success, participant demographics, and retention rates were collected and analyzed using descriptive statistics, including ANOVA and Chi-squares, to statistically compare the outcomes associated with 5 different recruitment methodologies. The recruitment methodologies included two community-engaged strategies (community partner referral and community-based recruiters), a clinical database, social media, and word-of-mouth referral. CONCLUSION: The meta-data used to build this methodological case study describe different recruitment methodologies that may be used for clinical trials. This data-driven evaluation provides examples and considerations for researchers when developing budgets and proposals for future clinical trials. The primary finding is that there are tradeoffs in terms of cost, time, labor, and ultimately the representativeness of the sample, based on the type of recruitment methodology chosen.

Obesity-Preventive Behaviors and Improvements in Depression among Diverse Utah Women Receiving Coaching from Community Health Workers.

OBJECTIVES: This study evaluated how high versus low-intensity community wellness coaching and health behaviors were associated with changes in depression screen results over one year. METHODS: This was an analysis of secondary data collected in a 12-month obesity-related community health worker (CHW) program for 485 Utah women of color. Depression screen (Patient Health Questionnaire-2 score ³3) and self-reported fruit/vegetable consumption and physical activity (FV/PA) were recorded quarterly. Associations between FV/PA and changes in depression screen over time were evaluated in multivariable models. RESULTS: Positive depression screen prevalence declined over 12 months (21.7% to 9.5%) with no difference between study arms. Overall, FV ³5 times/day (AOR=1.5; 95% CI 1.0-2.2), any PA (AOR=3.1; 95% CI 1.5-6.4), and muscle strengthening activities (AOR=1.13; 95% CI 1.01-1.26) were associated with improved depression screen results over time. CONCLUSION: These results indicate value in addressing and evaluating depression in obesity-related interventions in underserved communities.

Research to classrooms: a co-designed curriculum brings All of Us data to secondary schools.

OBJECTIVES: We describe new curriculum materials for engaging secondary school students in exploring the "big data" in the NIH All of Us Research Program's Public Data Browser and the co-design processes used to collaboratively develop the materials. We also describe the methods used to develop and validate assessment items for studying the efficacy of the materials for student learning as well as preliminary findings from these studies. MATERIALS AND METHODS: Secondary-level biology teachers from across the United States participated in a 2.5-day Co-design Summer Institute. After learning about the All of Us Research Program and its Data Browser, they collaboratively developed learning objectives and initial ideas for learning experiences related to exploring the Data Browser and big data. The Genetic Science Learning Center team at the University of Utah further developed the educators' ideas. Additional teachers and their students participated in classroom pilot studies to validate a 22-item instrument that assesses students' knowledge. Educators completed surveys about the materials and their experiences. RESULTS: The "Exploring Big Data with the All of Us Data Browser" curriculum module includes 3 data exploration guides that engage students in using the Data Browser, 3 related multimedia pieces, and teacher support materials. Pilot testing showed substantial growth in students' understanding of key big data concepts and research applications. DISCUSSION AND CONCLUSION: Our co-design process provides a model for educator engagement. The new curriculum module serves as a model for introducing secondary students to big data and precision medicine research by exploring diverse real-world datasets.

Midlife Women's Menopausal Transition Symptom Experience and Access to Medical and Integrative Health Care: Informing the Development of MENOGAP.

Background: Individuals with a uterus experience menopause, the cessation of menses, on average at age 51 years in the United States. While menopause is a natural occurrence for most, over 85% of women experience multiple interfering symptoms. Menopausal women face health disparities, including a lack of access to high-quality healthcare and greater disparities are experienced by women who are black, indigenous, and people of color. Some women are turning away from hormone therapy, and some seek integrative health interventions. Objective: Some menopausal women who seek healthcare do not receive it as they lack access to medical and integrative healthcare providers. A potential solution to this problem is a medical group visit (MGV), during which a provider sees multiple patients at once. The aims of this study were to gather women's opinions about the menopause, provider access, and conventional and integrative health interventions for later use to develop a menopause MGV. Methods: We conducted a Community Engagement Session and a Return of Results (RoR) with midlife women to learn about their menopause experiences, barriers and facilitators to accessing health providers, and their interest in and suggestions for designing a future integrative MGV (IMGV). Thematic qualitative research methods were used to summarize session results. Results: Nine women participated in the Session and six attended the RoR. Participants were well-educated and diverse in race and ethnicity. Themes included: an interest in this topic; unfamiliar medical terms; relevant social factors; desired whole person care; interest in integrative health; barriers and facilitators to accessing healthcare. The group expressed interest in ongoing participation in the future process of adapting an IMGV, naming it MENOGAP. Conclusion: These findings highlight the importance of stakeholder engagement before designing and implementing MENOGAP and the great need among midlife women for education about the menopausal transition, integrative self-care, and healthcare.

Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.

A population-based pilot study of newborns screening for a rare genetic condition, spinal muscular atrophy (SMA), is being conducted with funding from the National Institutes of Health. The first component of the study is to assess the ethical, legal, and social implications of population-based pilot studies with a focus on public engagement and parental decision-making for the proposed opt-out approach in this research. We conducted focus groups with members of the general public to ascertain attitudes about the pilot study and acceptability of an opt-out approach in two states, Colorado and Utah, where the pilot screening is being proposed (N = 70). We developed an informational video for the project and showed it to the groups prior to the discussion in order to inform participants about population-based research, newborn screening (NBS), permission/consent models, and SMA. Results indicated support for the conduct of pilot studies that is consistent with the current standard of practice for similar population-based programs. There was support for an opt-out approach for parental decision-making; however there was limited parental knowledge about population-based research, NBS and SMA. In general, our participants considered this pilot study to be low risk and of potential benefit to infants and families. The majority of participants were supportive of an opt-out approach with information delivered through various avenues

Maximizing the Benefit of Respite for Dementia Caregivers: A Study Protocol Describing the Development & Evaluation of the Time for Living & Caring (TLC) Intervention.

Dementia caregivers are susceptible to adverse physical and mental health outcomes, given the often prolonged and challenging care and support they provide to family members with Alzheimer's Disease and Related Dementias (ADRD). This report describes a community-engaged implementation of a novel behavioral intervention - an "app" (interactive website) called TLC (Time for Living and Caring) that coaches caregivers on how to maximize the benefits associated with respite time. The rationale and features of the TLC intervention and the full research protocol used to develop and then evaluate its feasibility, acceptability, and initial efficacy are described here.

Applying best practices for health disparities work to create a treatment adaptation framework for culturally diverse communities: A mixed-methods approach.

OBJECTIVE: Integrating best practices for health disparities to adapt evidence-based treatments is imperative to adequately meet the needs of diverse cultures, particularly ones that therapists can apply flexibility across multiple diverse communities. METHOD: Using a mixed-methods, community-engaged approach, we examined how a range of community participants (N = 169) defined mental health, perceived barriers to treatment, and used culturally based coping methods to manage their mental health. Phase 1 (n = 49) included qualitative focus group data from five distinct racial/ethnic communities (African immigrants/refugees, Black/African Americans, Hispanics, Pacific Islanders, and American Indians). Phase 2 included quantitative surveys from members of four of these communities (n = 59) and the frontline providers serving them (n = 61). RESULTS: The communities and providers highlighted chronic worry and distress related to daily activities as primary treatment concerns. Further, this mixed-methods data informed our proposed best practice treatment adaptation framework using chronic worry as an example. CONCLUSION: The main aims of this study were to exemplify best practices for addressing mental health inequities in communities of color in terms of (a) conducting health disparities research and (b) applying a treatment adaptation framework for culturally responsive clinical care. Specific features of how this framework was conceived and applied provide a unique and critical view into integrating best practices to address health disparities in diverse communities. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Concerns of newborn blood screening advisory committee members regarding storage and use of residual newborn screening blood spots.

OBJECTIVES: We assessed attitudes and opinions of members of newborn blood screening (NBS) advisory committees regarding the storage and secondary research use of residual specimens from NBS. METHODS: We conducted focus groups in 2008 and 2009 with NBS advisory committees (4 focus groups; n = 39 participants) in the Mountain States region (i.e., AZ, CO, MT, NM, NV, TX, UT, and WY). RESULTS: Participants identified several challenges to implementing policies for storage of and research on residual newborn blood specimens. Themes that emerged from the data were public health relevancy; improvement of parental knowledge; impact of enhanced parental involvement; concerns over ownership, privacy, and confidentiality; identification of secondary research uses; and role of advisory committees. CONCLUSIONS: Participants indicated that secondary uses of residual specimens entailed opportunities for improvements in NBS programs but also carried significant risks for their programs. Addressing concerns from stakeholders will be necessary for state-level adoption of national recommendations.