Public Health Genomics最新文献

Introduction: The Implementing Universal Lynch Syndrome Screening (IMPULSS) study explained institutional variation in universal tumor screening (UTS) with the goal of identifying ways to aid organizational decision makers in implementing and optimizing Lynch syndrome UTS programs.

Methods: After applying the Consolidated Framework for Implementation Research (CFIR 1.0) to analyze interviews with 66 stakeholders across 9 health care systems to develop a toolkit for implementation, we adapted the International Patient Decision Aid Standards (IPDAS) to assess toolkit potential to aid decision making consistent with organizational values. We then conducted user testing with two experienced and four non-experienced implementers of UTS to improve the content and functionality of the toolkit and assess its acceptability and appropriateness.

Results: Toolkit components were organized to address findings related to CFIR 1.0 constructs of evidence strength & quality, relative advantage, cost, engaging, planning, executing, and reflecting & evaluating. A home page was added to direct users to different sections based on whether they are deciding to implement UTS, planning for implementation, improving an existing UTS program, or considering a different approach to identify patients with Lynch syndrome. Upon initial evaluation, 31 of 64 IPDAS criteria were met by the original toolkit. All users rated the toolkit as acceptable and appropriate for assisting organizational decision making and identified multiple areas for improvement. Numerous iterative changes were made to the toolkit, resulting in meeting 17 of the previously unmet IPDAS criteria.

Conclusion: We demonstrate the rigorous development of a toolkit guided by the CFIR and show how user testing helped improve the toolkit to ensure it is acceptable, appropriate, and meets most IPDAS criteria relevant to organizational values-based decision making.

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.

Introduction: Despite growing calls for the explicit application of theory when designing behaviour change interventions, limited empirical evidence exists regarding the effectiveness of these methods compared to non-theoretical approaches. A cluster randomized controlled trial (Hide and Seek Project - HaSP) tested two implementation approaches for improving hereditary cancer referral practices with one key distinction: implementation strategies were designed based explicitly on psychological theory or based on stakeholder intuition. This study presents the detailed methods and resources used to facilitate this comparison, whilst examining the strategies generated through both approaches.

Methods: Across seven Australian hospitals, clinical stakeholders attended focus groups to co-design site-specific strategies for improving Lynch syndrome referral. Co-design methods differed according to trial arm. Implementation strategy content was examined, with intuitively derived strategies retrospectively coded to determine theoretical alignment.

Results: Fifty-one strategies were proposed across all sites (theory-based arm = 32, intuition-based arm = 19). Overall, nine behaviour change technique (BCT) categories were used on 77 occasions. In the theory-based trial arm, eight BCT categories were identified on 53 occasions; and five BCT categories on 24 occasions in the intuition-based arm. BCT categories were largely similar across both arms. After retrospectively coding intuitively derived strategies, 42% contained mechanistic links, thereby demonstrating theoretical alignment.

Conclusion: Methods facilitated robust comparison of theoretical and intuitive approaches to implementation strategy design. Recognizing the known benefits of theory for enhancing scientific learning, applying these methods on a larger scale may provide definitive evidence about the comparative effectiveness of theoretical approaches.

Introduction: Less than half of eligible Black women are assessed for genetic risk and only 28% engage in recommended hereditary breast and ovarian cancer (HBOC) risk-reducing interventions. CHWs are trusted individuals that work as a liaison between health systems and the community to improve access to services and support cancer prevention efforts, though they are an overlooked resource to support genetic risk assessment. To address the need and training gaps for CHWs, we developed and assessed an online training program to build CHW's competencies in cancer genomics and use of health information technologies to navigate high-risk individuals to appropriate genetic services.

Methods: The curriculum and 10 training modules were developed through engaging a panel of experts in a three-round Delphi process. Recruitment focused on CHWs who worked in clinical settings or groups providing outreach or health services to Black women. We assessed: changes in knowledge and attitudes about HBOC and genomics, as well as the perceptions about the quality and implementation of the training.

Results: Forty-six individuals expressed interest in the training after recruitment. Thirty eight individuals were eligible for the training and 26 completed the course. We found improvements in knowledge and genomics competencies immediately post-course, but the majority of these improvements were not sustained at 3-month follow-up. The training was highly rated for its relevance to CHW work and overall delivery. Top rated sessions included HBOC overview and family history collection. On average, participants reported discussing HBOC with 17 individuals at 3-month follow-up.

Conclusion: Championing a diverse cancer and genomics workforce can help address the goals of the National Cancer Plan to improve early detection and health equity. Through this training, CHWs gained critical cancer and genomics knowledge that was then applied to their primary roles.

Introduction: Although the prevalence of a pathogenic variant in the BRCA1 and BRCA2 genes is about 1:400 (0.25%) in the general population, the prevalence is as high as 1:40 (2.5%) among the Ashkenazi Jewish population. Despite cost-effective preventive measures for mutation carriers, Orthodox Jews constitute a cultural and religious group that requires different approaches to BRCA1 and BRCA2 genetic testing relative to other groups. This study analyzed a dialog of key stakeholders and community members to explore factors that influence decision-making about BRCA1 and BRCA2 genetic testing in the New York Orthodox Jewish community.

Methods: Qualitative research methods, based on Grounded Theory and Narrative Research, were utilized to analyze the narrative data collected from 49 key stakeholders and community members. A content analysis was conducted to identify themes; inter-rater reliability was 71%.

Results: Facilitators of genetic testing were a desire for preventive interventions and education, while barriers to genetic testing included negative emotions, feared impact on family/romantic relationships, cost, and stigma. Views differed on the role of religious leaders and healthcare professionals in medical decision-making. Education, health, and community were discussed as influential factors, and concerns were expressed about disclosure, implementation, and information needs.

Conclusion: This study elicited the opinions of Orthodox Jewish women (decision-makers) and key stakeholders (influencers) who play critical roles in the medical decision-making process. The findings have broad implications for engaging community stakeholders within faith-based or culturally distinct groups to ensure better utilization of healthcare services for cancer screening and prevention designed to improve population health.

One of the primary public health functions of a tuberculosis (TB) program is to arrest the spread of infection. Traditionally, TB programs have relied on epidemiological information, gathered through contact tracing, to infer that transmission has occurred between people. The ability of drawing such inferences is extensively context dependent. Where epidemiological information has been strong, such as 2 cases of TB occurring sequentially within a single household, confidence in such inferences is high; conversely, public health authorities have been less certain about the significance of TB cases merely occurring in the same wider social group or geographic area. Many current laboratory tests for TB used globally may be sufficient to confirm a diagnosis and guide appropriate therapy but still be insufficiently precise for distinguishing two strains reliably. In short, drawing inferences regarding a chain of transmissions has always been as much art as science.

Introduction: When a pathogenic BRCA1 or BRCA2 mutation is identified in a family, cascade genetic testing of family members is recommended since the results may inform screening or treatment decisions in men and women. However, rates of cascade testing are low, and men are considerably less likely than women to pursue cascade testing. To facilitate cascade testing in men, we designed a Web-based genetic education tool that addressed barriers to cascade testing, was individually tailored, delivered proactively, and could be used in lieu of pretest genetic counseling to streamline the cascade testing process.

Methods: We randomized 63 untested men from hereditary cancer families to Web-based genetic education (WGE) versus enhanced usual care (EUC). WGE participants were provided access to a genetic education website after which they could accept or decline genetic testing or opt for pretest genetic counseling. EUC participants received an informational brochure and a letter informing them of their eligibility for genetic testing and recommending they schedule genetic counseling. The primary outcome was the uptake of genetic testing.

Results: Men in the WGE group were more likely to complete genetic counseling and/or genetic testing (43% vs. 12.1%; χ2 [n = 63, df = 1] = 7.77, p = 0.005). WGE participants were also more likely to complete genetic testing compared to men in the EUC group (30% vs. 9.1%; χ2 [n = 63, df = 1] = 4.46, p = 0.03).

Conclusion: This preliminary trial suggests that a streamlined approach to genetic testing using proactively delivered genetic education may reduce barriers to cascade testing for at-risk men, leading to increased uptake. These results should be interpreted cautiously given the select sample and high rate of non-response.

Introduction: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans' attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods.

Methods: Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process.

Results: Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts.

Discussion/conclusion: This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.