Health care utilization and behavior changes after workplace genetic testing at a large US health care system.

PURPOSE: This study explored employee health behavior changes and health care utilization after workplace genetic testing (wGT). Wellness-program-associated wGT seeks to improve employee health, but the related health implications are unknown. METHODS: Employees of a large US health care system offering wGT (cancer, heart disease, and pharmacogenomics [PGx]) were sent electronic surveys. Self-reported data from those who received test results were analyzed. Descriptive statistics characterized responses, whereas logistic regression analyses explored correlates of responses to wGT. RESULTS: 53.9% (n = 418/776) of respondents (88.3% female, mean age = 44 years) reported receiving wGT results. 12.0% (n = 48/399) received results indicating increased risk (IR) of cancer, 9.5% (n = 38/398) had IR of heart disease, and 31.4% (n = 125/398) received informative PGx results. IR results for cancer and/or heart disease (n = 67) were associated with health behavior changes (adjusted odds ratio: 3.23; 95% CI 1.75, 6.13; P < .001) and health care utilization (adjusted odds ratio: 8.60; 95% CI 4.43, 17.5; P < .001). Informative PGx results (n = 125) were associated with medication changes (PGx-informative: 15.2%; PGx-uninformative: 4.8%; P = .002). CONCLUSION: This study explored employee responses to wGT, contributing to the understanding of the ethical and social implications of wGT. Receiving IR results from wGT may promote health behavior changes and health care utilization in employees.

The Genetic Information Nondiscrimination Act and workplace genetic testing: Knowledge and perceptions of employed adults in the United States.

Workplace wellness programs are an emerging avenue for health-related genetic testing, with some large employers now offering such testing to employees. Employees' knowledge and concerns regarding genetic discrimination may impact their decision-making about and uptake of workplace genetic testing (wGT). This study describes employed adults' objective knowledge of the Genetic Information Nondiscrimination Act (GINA) and evaluates how this knowledge correlates with attitudes and beliefs regarding wGT. Analyses utilized data from a large, national web-based survey of employed adults (N = 2000; mean age = 43 years; 51% female; 55.2% college educated). Overall, most respondents (57.3%) said they were unaware of any laws protecting against genetic discrimination. Specifically, 62.6% indicated they were not at all familiar with GINA. The primary study outcome was respondents' score on a 13-item measure assessing knowledge of basic facts about GINA. Participants had low overall GINA knowledge (M = 4.6/13 items correct (35%), SD = 2.9), with employees often presuming GINA offers greater legal protections than it does (e.g., 45.3% erroneously endorsed that GINA protected against discrimination in life insurance). Logistic regression analyses assessed associations between GINA knowledge and employees' demographic characteristics, prior experience with genetic testing, and attitudes regarding wGT. Variables significantly associated with GINA knowledge included higher interest in wGT (aOR = 1.45; 95% CI: 1.20, 1.77), self-reported familiarity with GINA (aOR = 2.02; 95% CI: 1.64, 2.50), and favorable attitudes toward wGT (aOR = 1.92; 95% CI: 1.52, 2.44). Results indicate public knowledge of GINA remains low over 15 years after its passage. These findings highlight the need for employee education on GINA before participating in wGT, as well as broader public education on GINA's legal protections and limitations. Genetic counselors lead GINA education efforts in clinical and public settings and can play a pivotal role in ongoing public education initiatives about GINA.

Characterising the social interaction style of autism in young adult males with fragile X syndrome.

BACKGROUND: The characterisation of autism in fragile X syndrome (FXS) has been a source of controversy due to the complexity of disentangling autism traits from common features of the FXS phenotype. Autism in FXS is significantly underdiagnosed in the community, which may be partly due to insufficient clinical description of the social interaction profile of autism within the FXS phenotype. In this study, we applied a classic framework for characterising social interaction styles in autism to a sample of young adult males with FXS and co-occurring autism to enhance understanding of how the social challenges associated with autism manifest within FXS. METHODS: Participants were 41 males (M age = 18 years) with FXS and co-occurring autism. Interaction samples were coded for expression of predominately 'active' (characterised by a desire to make social approaches) or 'passive' (characterised by lack of initiation of social approach towards others) interaction profiles. Differences in the expression of phenotypic features of FXS, including anxiety, attention-deficit/hyperactivity disorder, cognitive, adaptive and language impairments and autism symptom severity, were examined across those with passive and active interaction styles. RESULTS: Approximately half of the sample was classified as active and half as passive, demonstrating diversity in the social phenotype of autism associated with FXS. The two subtypes did not differ in autism severity, anxiety or attention-deficit/hyperactivity disorder symptoms or in cognitive, adaptive or language abilities. CONCLUSIONS: This study enhances understanding of FXS-associated autism by documenting phenotypic variability in the social interaction profile in this group, with active and passive social interaction styles represented. The two social interaction styles were not associated with differential expression of common phenotypic features of FXS, suggesting similar support needs.

Leading Health-Related Concerns of Older Adults Before the 2024 Election.

This national cohort survey of older adults assesses which health-related concerns they consider to be most salient in the 2024 election.

Interest in and Experience with Genetic Testing for Late-Onset Medical Conditions: Results from the National Poll on Healthy Aging.

BACKGROUND: The increasing availability of genetic testing for late-onset diseases such as Alzheimer's disease necessitates understanding public perceptions and experiences of such testing among at-risk populations. OBJECTIVES: To assess (a) prior uptake of genetic testing (both in medical and direct-to-consumer settings), (b) future interest in genetic testing for late-onset conditions (e.g., Alzheimer's disease, Parkinson's disease), and (c) perceptions of testing pros and cons among middle-to-older aged adults. DESIGN: Online, cross-sectional survey study. SETTING: The National Poll on Healthy Aging at the University of Michigan is a recurring biannual survey of a nationally representative sample of adults aged 50-80. This study reports on a March 2018 fielding of the survey that included a genetic testing module administered to adults aged 50-64. PARTICIPANTS: Study participants were 991 community-dwelling adults aged 50-64. MEASUREMENTS: Survey measures assessed (a) prior use of genetic testing, (b) reasons for engaging in genetic testing, (c) interest in different types of genetic testing, including for Alzheimer's disease, Parkinson's disease, and macular degeneration, and (d) perceived benefits, risks, and limitations of testing. RESULTS: Previous uptake of genetic testing was limited (medical use: 5.1%; direct-to-consumer: 10.8%), with direct-to-consumer test uptake higher among respondents with household incomes of $100,000 or more. Over half of adults endorsed interest in genetic testing for estimation of disease risk (58.9%), ancestry knowledge (58%), and informing medical care (53.8%). Interest in genetic testing for specific late-onset conditions was even higher, including Alzheimer's disease (70%), Parkinson's disease (65.3%), and macular degeneration (64.3%). Multivariable logistic regression models showed that older adults more likely to be interested in genetic testing for medical or disease risk purposes were those with higher levels of education (college degree or higher) and who endorsed the benefits of genetic testing, whereas respondents who endorsed testing risks and limitations were less likely to express interest. CONCLUSION: While prior use of genetic testing among the middle-to-older age population was low, interest in testing for Alzheimer's disease and other late-onset conditions was high. This high interest may translate into increased uptake given expanded access to testing and recent treatment advances for Alzheimer's disease.

The Consequences of Misdiagnosing Race-Based Trauma Response in Black Men: A Critical Examination.

Mental illness is a significant public health concern prevalent in America. Over one in five U.S. adults are affected, yet less than half receive treatment. Among African Americans, only one in three seek treatment with statically lower rates among Black males. Therefore, an accurate diagnosis is crucial for appropriate treatment, while misdiagnosis leads to stigma, discrimination, and untreated illness. This paper examines the implications of misdiagnosing trauma responses in Black men, highlighting systemic biases that impede suitable care and perpetuate negative narratives. The authors propose a conceptual framework incorporating historical trauma, discrimination, and traumatic stress reactions, emphasizing the need for cultural competence and humility. This framework involves public narratives that influence perceptions and judgments, reviewing research evidence, advocating for competent trauma assessments, community empowerment, and future research directions. This paper underscores the importance of understanding and addressing the unique challenges Black men face in mental health diagnosis and treatment.

Value of Knowing: Health-Related Behavior Changes following Amyloid PET Results Disclosure in Mild Cognitive Impairment.

BACKGROUND: Growing evidence supports the clinical utility of amyloid PET, however, whether patients at risk for dementia use knowledge of their brain amyloid status to alter their health behaviors remains unclear. OBJECTIVES: To explore the effect of amyloid PET results disclosure on self-reported health behaviors in patients with mild cognitive impairment. DESIGN: Self-reported health behaviors were a secondary outcome of the Return of Amyloid Imaging Scan Results (RAISR) randomized clinical trial of amyloid PET results disclosure for individuals with mild cognitive impairment. SETTING: Academic medical center. PARTICIPANTS: RAISR study participants included 82 patients with mild cognitive impairment who were 92% non-Hispanic white, 59% male, and, on average, 73 ± 8.61 years old with 16.25 ± 2.49 years of education. INTERVENTION: Participants were assigned to a scan group with the opportunity to have an amyloid PET scan and learn their results or to a control group consisting only of a mild cognitive impairment education session and no opportunity for an amyloid PET scan. MEASUREMENTS: A 14-item health behavior questionnaire supplemented with qualitative data from the open-ended text entries to describe "other" health behaviors and follow-up semi-structured interviews. Baseline assessments were conducted prior to group assignment. For the present analysis, 71 participants had available data and scan group participants were divided by amyloid status, creating three groups for comparison: amyloid positive, amyloid negative, and control (no scan). RESULTS: Over 12 months of follow-up, no significant differences were observed in lifestyle, vitamin/supplement use, stress reduction activities, cognitive stimulation, or advance directive completion. Amyloid-negative participants were less likely than controls to consider long-term care insurance (63.6% vs. 89.2%; P = .025), and to endorse behaviors classified as "other" (36.4% vs. 64.9%; P = 0.037). After adjusting for education level, gender, and Mini-Mental State Exam score, logistic regression showed that amyloid-negative patients were 74% less likely than controls to report "other" behaviors (OR = 0.26, 95% CI [0.08, 0.85], P = 0.025), and 78% less likely to consider long-term care insurance (OR= 0.22, 95% CI [0.06, 0.86], P = 0.03). Qualitative analysis of open-ended questionnaire data and supplemental interviews with scan group participants revealed "other" activities to include changes in areas like employment, driving, and residential status, and engagement in other non-medical activities (e.g., pursuing bucket lists). CONCLUSIONS: This exploratory analysis of health-related behavior changes following amyloid PET disclosure suggests that the value of knowing one's brain amyloid status may differ by scan result and encompass actions that focus more on maximizing quality of life than promoting cognitive health.

Iron limitation induces motility in uropathogenic E. coli CFT073 partially through action of LpdA.

More than half of women will experience a urinary tract infection (UTI) with most cases caused by uropathogenic Escherichia coli (UPEC). Bacterial swimming motility enhances UPEC pathogenicity, resulting in more severe disease outcomes including kidney infection. Surprisingly, the connection between motility and iron limitation is mostly unexplored despite the lack of free iron available in the host. We sought to investigate a potential connection between iron restriction and regulation of motility in UPEC. We cultured E. coli CFT073, a prototypical UPEC strain, under iron limitation and observed that CFT073 had elevated fliC (flagella) promoter activity, and this iron-specific response was repressed by the addition of exogenous iron. We confirmed increased flagellar expression in CFT073 by measuring fliC transcript, FliC protein, and surface-expressed flagella under iron-limited conditions. Interestingly, known motility regulator flhDC did not have altered transcription under these conditions. To define the regulatory mechanism of this response, we constructed single knockouts of eight master regulators and found the iron-regulated response was lost in crp, arcA, and fis mutants. Thus, we focused on the five genes regulated by all three regulators. Of the five genes knocked out, the iron-regulated motility response was most strongly dysregulated in the lpdA mutant, which also resulted in significantly lowered fitness in the murine model of ascending UTI, both against the WT and a non-motile fliC mutant. Collectively, we demonstrated that iron-mediated motility in CFT073 is partially regulated by lpdA, which contributes to the understanding of how uropathogens differentially regulate motility mechanisms in the iron-restricted host. IMPORTANCE: Urinary tract infections (UTIs) are ubiquitous and responsible for over five billion dollars in associated health care costs annually. Both iron acquisition and motility are highly studied virulence factors associated with uropathogenic Escherichia coli (UPEC), the main causative agent of uncomplicated UTI. This work is innovative by providing mechanistic insight into the synergistic relationship between these two critical virulence properties. Here, we demonstrate that iron limitation has pleiotropic effects with consequences that extend beyond metabolism and impact other virulence mechanisms. Indeed, targeting iron acquisition as a therapy may lead to an undesirable enhancement of UPEC pathogenesis through increased motility. It is vital to understand the full breadth of UPEC pathogenesis to adequately respond to this common infection, especially with the increase of antibiotic-resistant pathogens.

Genetic Researchers' Use of and Interest in Research With Diverse Ancestral Groups.

Importance: Genetic researchers must have access to databases populated with data from diverse ancestral groups to ensure research is generalizable or targeted for historically excluded communities. Objective: To determine genetic researchers' interest in doing research with diverse ancestral populations, which database stewards offer adequate samples, and additional facilitators for use of diverse ancestral data. Design, Setting, and Participants: This survey study was conducted from June to December 2022 and was part of an exploratory sequential mixed-methods project in which previous qualitative results informed survey design. Eligible participants included genetic researchers who held US academic affiliations and conducted research using human genetic databases. Exposure: Internet-administered survey to genetic research professionals. Main Outcomes and Measures: The survey assessed respondents' experience and interest in research with diverse ancestral data, perceptions of adequacy of diverse data across database stewards (ie, private, government, or consortia), and identified facilitators for encouraging use of diverse ancestral data. Descriptive statistics, χ2 tests, and z tests were used to describe respondents' perspectives and experiences. Results: A total of 294 researchers (171 men [58.5%]; 121 women [41.2%]) were included in the study, resulting in a response rate of 20.4%. Across seniority level, 109 respondents (37.1%) were senior researchers, 85 (28.9%) were mid-level researchers, 71 (24.1%) were junior researchers, and 27 (9.2%) were trainees. Significantly more respondents worked with data from European ancestral populations (261 respondents [88.8%]) compared with any other ancestral population. Respondents who had not done research with Indigenous ancestral groups (210 respondents [71.4%]) were significantly more likely to report interest in doing so than not (121 respondents [41.2%] vs 89 respondents [30.3%]; P < .001). Respondents reported discrepancies in the adequacy of ancestral populations with significantly more reporting European samples as adequate across consortium (203 respondents [90.6%]), government (200 respondents [89.7%]), and private (42 respondents [80.8%]) databases, compared with any other ancestral population. There were no significant differences in reported adequacy of ancestral populations across database stewards. A majority of respondents without access to adequate diverse samples reported that increasing the ancestral diversity of existing databases (201 respondents [68.4%]) and increasing access to databases that are already diverse (166 respondents [56.5%]) would increase the likelihood of them using a more diverse sample. Conclusions and Relevance: In this survey study of US genetic researchers, respondents reported existing databases only provide adequate ancestral samples for European populations, despite their interest in other ancestral populations. These findings suggest there are specific gaps in access to and composition of genetic databases, highlighting the urgent need to boost diversity in research samples to improve inclusivity in genetic research practices.

Field application of a colorimetric method of assaying chloroquine and desethylchloroquine in urine

In a study in western Kenya of malaria-infected adult women who had been treated with chloroquine, we compared the level of chloroquine and its principal metabolite, desethylchloroquine, in urine, measured using a newly developed modified Haskins test, with the level of chloroquine in whole blood, determined by high-performance liquid chromatography. Over a 28-day follow-up period, 277 matched urine and blood samples from 81 women were evaluated. A high correlation was observed between the level of chloroquine in whole blood (in ug/l) and that of chloroquine+desethylchloroquine in urine (in ug/l). The test was easily performed and may be useful for monitoring use of chloroquine in a community and determining a pre-study or post-treatment ingestion or absorption of the drug in in vivo studies of parasite sensitivity