The State of National Institute of Health Awards for funding genetic counseling research, resources, and training over the past decade.

Research related to the practice of genetic counseling has historically been accomplished through student projects, small private grants, or as a part of a larger research study. Yet, recent initiatives supported by the National Society of Genetic Counselors and the National Human Genome Research Institute have recognized and promoted the need for additional genetic counseling research funding and training. In this study, we aimed to characterize awards from the United States' National Institutes of Health (NIH) over the past 10 years that support research related to genetic counseling. A search of the NIH RePORTER database conducted on April 25, 2022, using terms broadly related to genetic counseling, identified 3993 awards from fiscal years 2011 to 2022. After deduplication, 1231 grants were reviewed for screening. The final dataset included 43 awards of various types with the majority being research or R series grants [R01 (n = 17), R21 (n = 7)]. The remaining awards were Cooperative Agreements (U01, n = 6), intramural (Z-grants, n = 5), Center Core (P30, n = 2), Specialized Center (P50, n = 1), Career Development Award (K01, n = 1), Other Transactions (OT2, n = 1), Resource Program (G13, n = 1), and Research Training and Fellowship (T32, n = 1). Most grants were awarded between 2019 and 2022 (n = 24, 55.8%). The majority of awards were categorized as studies that included a comparison of different genetic counseling models (n = 23), outcomes of implementing genetic counseling (n = 11), core resources for genetic counselors (n = 5), and genetic counseling training programs (n = 4). Thirteen of the awards (30.2%) had a specific aim/goal/focus on underserved or underrepresented populations. The topics were predominantly related to cancer (n = 26). Nine awards were led or co-led by a genetic counselor (20.9%). Despite significant growth in genetic counseling research support from US-based funders over the past 3 years, major gaps related to funding exist, including that most award recipients are not genetic counselors.

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review.

BACKGROUND: Congenital hydrocephalus (CH) is a life-threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range from secondary insults to germline pathogenic variants, complicating diagnostic processes and treatment outcomes. Currently, an updated summary of CH genetic etiologies in conjunction with clinical testing methodologies is lacking. This review addresses this need by generating a centralized survey of known genetic causes and available molecular tests for CH. METHODS: The scoping review protocol was registered with the Open Science Framework and followed the Arksey and O'Malley framework and the Joanna Briggs Institute methodology. The Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) was utilized to define search guidelines and screening criteria. RESULTS: Our survey revealed a high number of genetic etiologies associated with CH, ranging from single gene variants to multifactorial birth defects, and additionally uncovered diagnostic challenges that are further complicated by changes in testing approaches over the years. Furthermore, we discovered that most of the existing literature consists of case reports, underscoring the need for studies that utilize CH patient research cohorts as well as more mechanistic studies. CONCLUSIONS: The pursuit of such studies will facilitate novel gene discovery while recognizing phenotypic complexity. Addressing these research gaps could ultimately inform evidence-based diagnostic guidelines to improve patient care.

Genetic counseling processes and strategies for racially and ethnically diverse populations: A systematic review.

Genetic counseling outcomes are influenced by the processes and strategies used by counselors, yet little is known about how these strategies directly impact patients and populations. In particular, tailoring genetic counseling consultations to best meet the needs of cultural, racial, and ethnically diverse populations has been explored. This review aims to identify genetic counseling strategies tailored for a diversity of racial and ethnic populations with the goal to find ways to improve genetic counseling outcomes. Medline, Cochrane CENTRAL, Embase, PsychInfo, and CINAHL databases were searched for original research articles published in English that employed genetic counseling processes and strategies to improve genetic counseling outcomes, specifically for participants from ethnically or racially diverse populations. A review of 5300 titles and abstracts resulted in the identification of 36 articles that met the inclusion criteria. Three themes emerged: (1) community involvement in culturally tailoring genetic counseling, (2) creation and use of culturally tailored resources, and (3) modifications to the genetic counseling process. The effectiveness of genetic counseling strategies could not be evaluated due to lack of consistent outcome measures in the articles. The involvement of diverse ethnic and racial populations in developing inclusive genetic counseling tools and practices will help the profession provide better patient care in the future. More research connecting genetic counseling processes and outcomes will help to assess how well these modified approaches meet the needs of diverse populations.

A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia.

PURPOSE: Familial hypercholesterolemia (FH) is one of the most common genetic conditions, with a prevalence of approximately 1 in 250 individuals. If left untreated, FH greatly increases risk for cardiovascular disease and premature death. Currently, FH is largely underdiagnosed and interventions are needed to increase identification. The purpose of this study was to identify effective interventions aimed at increasing FH diagnosis. METHODS: A scoping review of the literature addressing interventions to increase FH detection was conducted. Included studies detailed interventions that increased screening and detection of FH globally. Studies were characterized by intervention type and analyzed for themes using the Consolidated Framework for Implementation Research. RESULTS: A total of 46 studies across 32 countries were included in the review. All studies were effective in increasing FH detection. In total, 12 different intervention types were extracted with the most used being cascade and electronic medical record screening-based interventions. CONCLUSION: Given the diversity of effective interventions identified in this review, future efforts could explore approaches that maximize identification through a combination of interventions. Our results support one such strategy that uses electronic medical records to screen for index cases and a 2-step indirect and direct contact method of index cases' relatives.

Reciprocal Associations Between Maternal Smoking Cessation and Breastfeeding.

Background: Pregnancy is a motivating factor to quit smoking, but many women relapse postpartum. The underlying mechanisms and the necessary duration of breastfeeding that provide long-term protection against postpartum smoking relapse are unknown. Aims: We aimed to examine (1) associations of smoking cessation with breastfeeding initiation and duration; (2) necessary breastfeeding duration to reduce or prevent risk of postpartum smoking relapse. Methods: In this cohort study, we recruited 55 mothers, either smoking or have quit smoking, who recently delivered their baby from the Greater Buffalo area, NY, USA. Results: Quitters had a higher breastfeeding initiation rate (73.7% versus 30.8%; p = 0.029) and breastfed longer (p < 0.024) than nonquitters. Mothers who never breastfed relapsed quicker than mothers who did (p = 0.039). There was a 28% reduction in smoking relapse at 12 months postpartum for every month longer of breastfeeding duration (confounder-adjusted hazard ratio, 0.72 [95% confidence interval, 0.55-0.94]; p = 0.014). The estimated smoking relapse risk was 60.0% for nonbreastfeeding, 22.4% for 3 months of breastfeeding, 8.4% for 6 months of breastfeeding, and 1.2% for 12 months of breastfeeding. Conclusion: Smoking cessation was associated with increased breastfeeding initiation and duration. Smoking relapse risk decreased with longer breastfeeding duration, and 12 months of breastfeeding may help to prevent smoking relapse. An integrated intervention of maternal smoking cessation and breastfeeding promotion is promising to enhance both behaviors.

Prenatal predictors of postpartum depression trajectories from birth to 24 months amongst smoking women.

AIMS AND OBJECTIVES: We aimed to identify postpartum depression (PPD) trajectories and examine relevant predictors amongst smoking women. BACKGROUND: PPD can adversely affect families. Predictors of PPD trajectories amongst smoking women are understudied. DESIGN: Longitudinal cohort study. METHODS: A cohort of 49 U.S. women (current or ex-smoking) completed the Edinburgh Postnatal Depression Scale from birth to 24 months postpartum. Latent class growth modelling was used to identify PPD trajectories. Predictors of PPD trajectories were identified, adjusting for confounders. Effect modification by prenatal Patient Health Questionnaire (PHQ) depression score was also assessed. STROBE guidelines were followed in reporting results. RESULTS: Three PPD trajectories were identified: non-PPD, transient PPD and chronic PPD. In multinomial logistic regression, social support was associated with lower odds of membership in the chronic PPD trajectory compared to non-PPD trajectory: being married or having a partner sharing resources (odds ratio OR = .14 [.02, .85], p-value = .03), greater partner support (OR = .87 [.77, .98], p-value = .02) and greater family/friends support (OR = .53 [.34, .82], p-value = .004). Transient PPD showed no differences with non-PPD on any predictors. In ordinal logistic regression models, social support was associated with lower odds of membership in a more severe PPD depression trajectory when prenatal PHQ depression score was in the low range (being married or having a partner sharing resources: p for effect modification = .06; partner support: p for effect modification = .05; and family/friends support: p for effect modification = .005). RELEVANCE TO CLINICAL PRACTICE: Compared to the general population, chronic PPD trajectories were more common amongst smoking women. Social support was an important predictor of more severe PPD trajectories, especially when prenatal depression is low. CONCLUSION: Our findings indicated that social support might decrease likelihood of severe PPD trajectories, especially when prenatal depression was low. Relevant predictors of transient PPD remained elusive.

Making the case for librarian expertise to support evidence synthesis for the sustainable development goals.

Evidence syntheses that engage librarians as co-authors produce higher-quality results than those that do not. Trained as teachers, researchers, and information managers, librarians possess expert knowledge on research methodologies and information retrieval approaches that are critical for evidence synthesis. Researchers are under increasing pressure to produce evidence syntheses to inform practice and policymaking. Many fields outside of health science and medicine, however, do not have established guidelines, processes, or methodologies. This article describes how librarians led the creation of an interdisciplinary toolkit for researchers new to evidence synthesis. The implementation of the tools, including a protocol, supported eight evidence syntheses focused on effective agricultural interventions published in a special collection in Nature Research in October 2020. This article is a step-by-step overview of the tools and process. We advocate that librarian collaboration in evidence synthesis must become the norm, not the exception. Evidence synthesis project leads without access to a qualified librarian may use this toolkit as a point of entry for production of transparent, reproducible reviews.

Effects of oats on gastrointestinal health as assessed by in vitro, animal, and human studies.

Oats are uniquely nutritious, owing to their composition of bioactive compounds, lipids, and ß-glucan. Scientific research has established that oats can improve diet quality, reduce cholesterol, regulate satiety, and protect against carcinogenesis in the colon; however, determining the effects of oats on gastrointestinal health and the gut microbiome is a newer, evolving area of research. To better understand the effects of oats on gastrointestinal health in humans, a literature review with predefined search criteria was conducted using the PubMed database and keywords for common gastrointestinal health outcomes. Moreover, to examine the gastrointestinal effects of oats across the scientific spectrum, a similar search strategy was executed to identify animal studies. In vitro studies were identified from the reference lists of human and animal studies. A total of 8 human studies, 19 animal studies, and 5 in vitro studies met the inclusion criteria for this review. The evidence in humans shows beneficial effects of oats on gastrointestinal health, with supportive evidence provided by in vitro and animal studies. The effective dose of oats varies by type, although an amount providing 2.5 to 2.9 g of ß-glucan per day was shown to decrease fecal pH and alter fecal bacteria. For oat bran, 40 to 100 g/d was shown to increase fecal bacterial mass and short-chain fatty acids in humans. Differences in study design, methodology, and type of oats tested make valid comparisons difficult. The identification of best practices for the design of oat studies should be a priority in future research, as the findings will be useful for determining how oats influence specific indices of gastrointestinal health, including the composition of the human gut microbiome.

The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies.

BACKGROUND: Racial/ethnic minority populations in the United States are consistently underrepresented in genetic research. Large-scale public participation is required to ensure discoveries from precision medicine research are applicable to everyone. To evaluate views toward and facilitators of participation among minority populations in the United States, we conducted a systematic review of literature. METHODS: Six databases were searched for articles published from 2005 to 2018 assessing minority populations' views and/or willingness to participate in genetic research. A thematic framework was applied to extracted data to synthesize findings, and the Socio-Ecological Model was used to evaluate papers. RESULTS: Review of 2,229 titles and abstracts identified 27 papers (n = 8 qualitative, n = 19 quantitative). Themes included knowledge of genetics, engagement in research, facilitators and barriers to participation, and cultural considerations. Understanding of genetics was low, yet the majority of participants were willing to participate in genetic research among all populations included in the literature (range: 57%-97%). Recommendations for research included utilizing community-based participatory approaches, evaluating participants' informational needs, incentivizing participation, and providing direct benefits (e.g., genetic test results). CONCLUSION: Results could influence future study designs that incorporate all levels of the Socio-Ecological Model and better meet the needs of underrepresented groups, thereby ensuring precision medicine research findings are applicable to all.

Impact of Cooking and Home Food Preparation Interventions Among Adults: A Systematic Review (2011-2016).

OBJECTIVE: To update a review of the impact of interventions for adults that included a cooking component on diet, health, and psychosocial outcomes. DESIGN: A total of 3,047 records were identified by searching MEDLINE, Agricola, Web of Science, and the Cochrane Central Register of Controlled Trials (January, 2011 to March, 2016). A total of 34 articles met inclusion and exclusion criteria for analysis. Study description and outcomes were extracted and synthesized to generate conclusions regarding impact. RESULTS: Less than half of the studies included a control group. The most common intended outcomes were improvements in fruit and/or vegetable intake and weight. The majority of studies showed positive dietary behavior changes and improvements in cooking confidence and knowledge. Limitations included the lack of a control group, no follow-up past after intervention, the use of nonvalidated assessment instruments, and small convenience samples. DISCUSSION: Findings were similar to a previous review regarding positive impact on dietary and cooking confidence outcomes. Clinical and weight outcomes were addressed in more studies included in the current review than in the previous 1; however, limitations were similar. CONCLUSIONS AND IMPLICATIONS: Intervention design and assessment tools need to be strengthened in intervention studies with cooking components.