Public Health Genomics最新文献

Introduction: Multiple studies have shown that genetic polymorphism in the MTHFR gene is associated with susceptibility to type 2 diabetes mellitus (T2DM), but the results remain controversial. This study was divided into two parts. The first part was to explore the relationship between the SNPs of MTHFR gene (C677T and A1298C) and genetic susceptibility to T2DM. Second, a meta-analysis was performed to evaluate the association between C677T gene and T2DM.

Methods: A case-control study was conducted to assess the association of MTHFR polymorphisms with T2DM risk. A meta-analysis including 7 studies was conducted by using Stata 17.0 software.

Results: In case-control study at the C677T (rs1801133), we found that compared with the AA genotype, GG + GA genotype was associated with an increased risk of T2DM (OR = 1.605; 95% CI: 1.229-2.095; p = 0.001); compared with the GG/GA genotype, AA genotype was associated with a decreased risk of T2DM (OR = 0.620; 95% CI: 0.450-0.855; p = 0.004; OR = 0.625; 95% CI: 0.470-0.830; p = 0.001). After adjusting for age, gender, and BMI statistical differences persisted. In case-control study at the A1298C (rs1801131), there was no significant association in all genetic models after adjusting for age, gender, and BMI. In the overall meta-analysis of the C677T gene, significant heterogeneity was detected in the recessive model (I2 = 89.84%, p < 0.01) and allele model (I2 = 88.38%, p < 0.01). Subgroup analysis showed that there was a significant association in the recessive model (I2 = 76.52%, p < 0.01; OR = 2.27, 95% CI: 1.16-4.44) under random-effects models in Asians.

Conclusions: The results suggest that the C677T polymorphism might have ethnicity-dependent effects in T2DM and may be associated with susceptibility to T2DM in Asians.

Introduction: At-risk relatives of probands with genetic variants associated with hereditary cancer risk should receive cascade genetic testing. In the USA, probands are expected to notify their own at-risk relatives, but many relatives never learn of their risk, representing missed opportunity to reduce morbidity and mortality associated with hereditary cancers. Direct contact of relatives could reach relatives not contacted by the proband. We conducted a single-arm, prospective pilot evaluation of a direct contact intervention based on patient and family preferences. Here, we report the study's quantitative results, measured by proband and relative participation in the intervention follow-up survey.

Methods: We recruited adults receiving genetic counseling for inherited cancer risk at one US integrated health system. A genetic counselor offered to contact at-risk relatives. We surveyed probands and relatives at study enrollment and 6-8 weeks and evaluated administrative data to assess the program's outreach to probands and relatives, its acceptability, and its limited efficacy.

Results: We approached 148 probands before their genetic counseling appointment. Fifty-five (37%) consented to study participation. Of these, 31 completed genetic testing, 29 of whom provided consent to contact 101 relatives. Forty-four percent (n = 45) of relatives consented to be contacted by the study genetic counselor. Acceptability was high for both groups and no harms were reported. All relatives reached (n = 43) received their proband's test results, including 6 pathogenic/likely pathogenic findings.

Conclusion: A direct contact program was acceptable, reached at-risk relatives, and communicated proband test results. Direct contact with early consent of relatives holds promise for future research.

Introduction: Genetic testing for health-related purposes is now offered in some workplace wellness programs, with notable ethical, legal, and social implications. However, little is known about employee perspectives on workplace genetic testing (wGT).

Methods: We surveyed a large, diverse national sample of 2,000 employed adults (mean age = 43 years; 51% female). Survey measures assessed respondents' wGT beliefs, perceptions of employer motivations for offering wGT, and privacy concerns.

Results: Most respondents (57.4%) agreed that wGT would improve employees' health, and 46.7% agreed it could aid recruitment and retention of employees. Many respondents attributed legally prohibited motivations to employers offering wGT, including charging employees higher insurance premiums based on wGT results (28.8% rated as very important to employers). Overall, 37% of respondents were not at all comfortable with their employer collecting their genetic information; in addition, most (83.6%) were somewhat or very concerned their employer would fail to protect the privacy of their genetic information or would share such information without permission (79.2%). Heightened privacy concerns were positively associated with employee characteristics, including age ≥55 years, self-identified Black or Asian race and ethnicity, and family history of common diseases, and inversely associated with prior genetic testing experience and employer trust.

Conclusions: Employees perceive potential health benefits of wGT but harbor substantial privacy concerns and show limited awareness of legal protections against employer misuse of wGT results. Findings suggest a need for robust employee education and informed consent in wGT, along with safeguarding of sensitive personal genetic information.

Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the "screen-sharing" feature via Zoom to display visual aids during results disclosure sessions positively impacted parental experience and comprehension of their child's genomic results, especially in underrepresented groups and those with limited English proficiency.

Methods: In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing. Families were randomized to receive genomic results via televisits with (ScrS) or without (NScrS) screen-sharing of visual aids. Spanish- or English-speaking parents/legal guardians completed surveys at three time points to assess perceived and objective understanding, perceived confidence, and telehealth experience. Regression models evaluated the effect of screen-sharing over time.

Results: Overall, understanding and telehealth experience ratings were high, with no significant differences between the ScrS (N = 192) and NScrS (N = 200) arms with regard to perceived (p = 0.32) or objective (p = 0.94) understanding, confidence (p = 0.14) over time, or telehealth experience (p = 0.10). When stratifying by sociodemographic characteristics and type of device used during results disclosure, we observed subtle differences in the effect of screen-sharing within some subgroups.

Conclusion: While screen-sharing had no significant impact on overall outcomes, we identified modest effects of screen-sharing within population groups that highlight the need for tailored communication strategies to ensure diverse, multilingual communities derive equitable benefit from telehealth-based genomic results disclosure. Future research is needed to determine whether certain types of visual aids best enhance genomic results disclosure in larger, more robust studies designed to detect smaller effects and subgroup differences.

Introduction: Unequal representation in genetic and genomic research is due to various factors including historically inequitable and unjust institutional research practices, potential mistrust of biomedical research among underrepresented populations, and lack of access to or awareness of research opportunities. Facilitating sustainable dialogue between diverse communities and genetic researchers can cultivate trusting, bidirectional relationships, potentially encouraging greater participation in research. Herein, we describe the co-creation of public health educational materials and dissemination plans using an approach designed to address inequities and foster community dialogue.

Methods: In this Methods paper, we describe the iterative co-creation of Genetics and Genomics educational modules by genetics clinicians, researchers, and community members. The goal of these modules is to enhance genetic literacy of the lay population to facilitate informed decision-making regarding genetic research and health services. We used Designing for Dissemination and Sustainability, grounded in Dissemination and Implementation science, and its Fit to Context process framework to guide the process. This approach ensures that the public health context and writing for a diverse audience are considered throughout the modules' development.

Conclusion: This article offers an evidence-based template for adoption or adaptation by other community-engaged groups, aimed at bolstering equity and sustainability in the development of health care interventions and with an emphasis on accessible public health literacy. The co-creation by researchers and community members of both materials and dissemination plans may improve the cultural appropriateness and relevance of public health genetics campaigns. Ongoing research is needed to assess the impact of this approach on receptiveness and participation.

Introduction: As genomic technologies and therapies advance, paired with increasing clinical knowledge and declining sequencing cost, the scope of DNA-based preventive pediatric screening is expected to expand. Age-Based Genomic Screening (ABGS) is an approach that proposes to integrate targeted genomic sequencing for highly actionable genetic conditions into routine well-child care at specific time points aligned with optimal interventions. Prior to the clinical implementation of ABGS in pediatric primary care, however, it is necessary to investigate the factors that may affect its adoption.

Methods: We conducted 20 interviews with providers from 11 clinics across North Carolina. Interviews lasted approximately 45 min, and rapid qualitative analysis was conducted using an analytic matrix.

Results: Interviewees stated that, in general, implementation of ABGS would be feasible but identified several barriers, including providers' potential discomfort discussing genomic screening and returning results as well as broader concerns about the potential to exacerbate health disparities. Providers also noted potential challenges affecting interest from patients and families, such as caregiver anxiety while awaiting results, patient apprehension regarding invasive sample collection methods (like blood draws), and a general lack of trust in government and medical institutions.

Conclusion: While ABGS was viewed as feasible, the identified barriers emphasize the importance of piloting this approach, particularly in terms of potential exacerbation of health disparities. These findings are useful to guide early development and assessment of efforts like ABGS and may also be applicable to broader integration of genomic screening into primary care.

Introduction: There is evidence of growing racial and ethnic disparities in genomic healthcare and precision medicine. Validated survey instruments and measures are required to understand the needs of diverse populations to appropriately tailor person-centered approaches and end disparities in genomic healthcare and precision medicine.

Methods: We aimed to examine the psychometric properties of a culturally adapted Spanish version of the Attitudes toward Genomics and Precision Medicine (AGPM). First, we culturally adapted the AGPM. We then conducted a web-based evaluation of the Spanish AGPM in a cohort of 486 individuals identifying as Hispanic to establish the Spanish version's reliability, factor structure, and measurement invariance relative to the English version. We also compared AGPM responses between Spanish- and English-speaking Hispanic individuals.

Results: The Spanish version of the AGPM demonstrates robust internal consistency with Cronbach alpha ranging from 0.84 to 0.98 across domains. All AGPM items significantly loaded on their respective factor (p < 0.001). Configural, metric, strict, and residual invariance models all met absolute and relative fit criteria. Significant differences were observed between Spanish- and English-speaking participants in some AGPM subscales.

Conclusions: The Spanish version of the AGPM demonstrates sound psychometric properties and may be useful for informing culturally empowered approaches to genomic healthcare and precision medicine for people identifying as Hispanic.

Introduction: Given that PD-L1 is a crucial immune checkpoint in regulating T-cell responses, the aim of this study was to explore the impact of PD-L1 gene polymorphisms and the interaction with cooking with solid fuel on susceptibility to tuberculosis (TB) in Chinese Han populations.

Methods: A total of 503 TB patients and 494 healthy controls were enrolled in this case-control study. Mass spectrometry technology was applied to genotype rs2297136 and rs4143815 of PD-L1 genes. The associations between single nucleotide polymorphism (SNPs) and TB were assessed using unconditional logistic regression analysis. Marginal structural linear odds models were used to estimate the gene-environment interactions.

Results: Compared with genotype CC, genotypes GG and CG+GG at rs4143815 locus were significantly associated with susceptibility to TB (OR: 3.074 and 1.506, respectively, p < 0.05). However, no statistical association was found between rs2297136 SNP and TB risk. Moreover, the relative excess risk of interaction between rs4143815 of the PD-L1 gene and cooking with solid fuel was 2.365 (95% CI: 1.922-2.809), suggesting positive interactions with TB susceptibility.

Conclusion: The rs4143815 polymorphism of the PD-L1 gene was associated with susceptibility to TB in Chinese Han populations. There were significantly positive interactions between rs4143815 and cooking with solid fuel.