Public Health Genomics最新文献

Background: Family Cancer History (FCH) provides insight into cancer risk and can guide prevention efforts. Black Americans experience high cancer burden and report several barriers to FCH knowledge due to family communication challenges. Few studies have examined family-level factors that impact FCH communication in Black Americans. This study employed a qualitative design to examine the family communication environments associated those who communicated more (i.e., disseminators) vs. less or no change (i.e., non-disseminators) within last year about family cancer history.

Methods: This is a secondary data analysis of a larger study that implemented a community education program on how to calculate cancer risk from family history (i.e., Families SHARE). Black Americans (N=39) participated in community education workshops (N = 12) and discussed family communication environments. A codebook was developed a priori and revised iteratively using a consensus approach. Dedoose qualitative software supported establishing interrater reliability (Cohen's Kappa = .83) and thematic analysis. Participants received $50 for survey and workshop completion.

Results: Pre-workshop disseminators (n=14) and non-disseminators (n=25) averaged 59 years of age, were 50% female, and earned <$20,000 per year. From baseline to follow-up, no significant between-group differences were observed. Norms related to age, sex, and privacy shaped family communication environments for both groups. Disseminators were marked by stronger relational quality and frequent contact, whereas non-disseminators indicated poorer relational quality and limited information flow throughout the family.

Conclusion: Theory-driven approaches that address the nuanced family communication environments of Black Americans can optimize FCH communication of disseminators and non-disseminators.

We quantified the association between health literacy and awareness of family health history using a nationwide cross-sectional study of 286,293 All of Us Research Program participants. Awareness of family health history was constructed as a binary outcome (1 = none at all vs. 0 = some/a lot). Health literacy (adequate vs. limited) was measured by the Brief Health Literacy Screening Tool. Modified Poisson regression models estimated unadjusted and adjusted prevalence ratios (PRs). Model 1 estimated the unadjusted relationship. Model 2 controlled for demographic factors. Model 3 further controlled for socioeconomic status. Models 4-6 further adjusted for health insurance, self-rated health status, and number of chronic health conditions, respectively. The average age was 53 years (SD = 17), with 4% who self-reported no awareness of family health history and 17% who had limited health literacy. Without controlling for confounders, participants with limited health literacy were 3.06 (95% CI: 2.95-3.17) times more likely than those with adequate health literacy to report no awareness of family health history. This significant association persisted but attenuated in Models 2 (adjusted PR [aPR]: 2.04, 95% CI: 1.96-2.12) and 3 (aPR: 1.43, 95% CI: 1.37-1.49). The association remained stable in Models 4-6 with the sequential addition of health insurance coverage (aPR: 1.42, 95% CI: 1.37-1.48), self-rated health status (aPR: 1.42, 95% CI: 1.36-1.47), and number of chronic health conditions (aPR: 1.42, 95% CI: 1.36-1.48). These findings indicate that increasing health literacy may increase awareness of family health history, which is vital for delivery of personalized healthcare and active patient participation in precision medicine.

Introduction Individuals from historically marginalized communities have less access to genetic testing services. Incomplete family history information in electronic health records contributes to under-identification of those eligible for genetic testing of hereditary cancer genes. Digital health tools can aid in collecting family history information, but there is a lack of information about how to integrate these tools in ways that are effective for different communities. This study investigated experiences with family history collection as well as acceptability and approaches for cultural adaptation of a chatbot for family history collection. Methods Seven community engagement studios were conducted with community leaders (N=48) representing historically marginalized communities, specifically Hispanic and Pacific Islander. The studios were conducted by trained facilitators in English (n=4) or Spanish (n=3) with 5-8 participants per studio. Transcripts of recorded studios were analyzed using inductive thematic analysis. Results Two domains, each with underlying themes, were identified: (1) previous family history collection experience and (2) chatbot impressions and feedback. Community leaders saw value in using a chatbot for family history collection and also expressed the importance of addressing accessibility of the tool. They emphasized interpersonal interactions together with the use of digital health tools and the importance of trusting relationships with healthcare professionals regardless of chatbot integration. Conclusion Community leaders highlighted specific strengths and limitations of the chatbot. The importance of human connection with healthcare professionals to build trusting relationships was emphasized. Successful integration of this tool into historically marginalized communities will require ongoing conversations and investment in communities.

Background: In current practice, individuals rarely share in the profits of research using their biospecimens. Many commentators defend this practice on the grounds that the contributions donors make are not important enough to merit a share of profits. Others argue that if researchers and sponsors profit, donors should too. Despite the importance of this debate, there are no data on the public's views.

Subjects and methods: On-line survey of US adults selected to approximate the 2020 US census on age, gender, race, ethnicity, and geographic region. Respondents were asked whether biospecimen donors should share in the profits or receive payments across six scenarios, differing on whether the research yields a profit and which other parties share in the profits.

Results: 77.2% of respondents indicated that donors should share in the profits when researchers profit and 78.9% when sponsors profit. Support for profit sharing was strong across all groups assessed, although respondents aged 65 and older were less likely to think donors should share in the profits.

Conclusions: A significant majority of a sample of the US public thinks individuals who donate their biospecimens should share in the profits of research that uses their samples. These findings offer compelling reason to reconsider current practice of not sharing profits with biospecimen donors.

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Introduction: Qualitative insights into European citizens' beliefs, expectations, attitudes, and factors relevant for decision-making regarding health-related direct-to-consumer genetic testing (DTC-GT) are scarce. Assessment thereof is essential to eventually empower them for informed decision-making and responsible use regarding DTC-GT. Materials & Methods: Twenty semi-structured, in-person interviews were conducted with a cohort of socio-demographically diverse Dutch citizens. During the interview, participants viewed an informative video regarding DTC-GT to ensure baseline knowledge, and hypothetical company materials, including an estimated disease risk, to assess the reactions of citizens to such materials. Interviews were transcribed verbatim and thematically analyzed.

Results: Participants were generally unaware of health-related DTC-GT prior to the interview invite. Participants expressed sizeable expectations across the entire DTC-GT consumer journey, and demonstrated several recurring misconceptions. Participants also indicated distrust towards DTC-GT sellers and their practices, and expressed dissatisfaction concerning the hypothetical results they received. Most participants indicated they would not be willing to undergo DTC-GT, but provided argumentation and weight of each argument were unique to each participant, indicating unique decision-making processes. Price was an important modifying factor in participants' decision-making. Participants suggested information provision by independent parties, development of quality marks, and implementation of enforceable regulation and legislation to support their decision-making.

Conclusions: Participants' expectations regarding health-related DTC-GT and towards DTC-GT sellers appear sizeable, and decision-making very personal. Stimulating informed decision-making through enhancement of information provision, (social) media campaigns, education, development of quality marks, and implementation of enforceable regulation and legislation, could aid in empowering citizens for responsible use of DTC-GT.

Background: Though genomic science has rapidly advanced, efforts to demonstrate the population-level utility of genomics have been slow to follow. It has long been argued that the family is an important unit of significance in genomics, yet it has been challenging to address this in clinical care. This is apparent in how hospital administrators and clinicians in the United States typically approach cascade screening, the process of notifying and offering genetic testing to at-risk relatives of a patient with a hereditary condition. The most common notification approach is proband-led contact, in which the index patient is responsible for communicating a health risk to their relatives. This model has been associated with suboptimal outcomes. In contrast, recent research has shown that system-led contact, in which healthcare or public health institutions initiate communication to relatives with the proband's consent, has been associated with increased clinical utility and acceptability.

Summary: With the needs of hospital administrators and clinicians in mind, we revisit normative questions about the appropriate way to notify relatives about their potentially elevated risk of developing an actionable disease. We review evidence demonstrating that system-led direct contact of relatives is feasible and acceptable. We further argue that system-led contact of relatives eligible for cascade screening is ethically justified if these programs are designed with public input, have an opt-out provision, and are implemented for conditions that meet specific criteria which we propose in this article.

Key messages: In this article, we emphasize the usefulness of public health ethics frameworks to inform the design of system-led contact programs. Beyond this, we make the case that such programs are necessary to realize the population utility of genomic medicine equitably.

Introduction: Deliberative democracy is an inclusionary approach to reaching consensus decision-making through participative and representative engagement. The Democratizing Education for Sickle Cell Disease Gene Therapy Project used a deliberative community engagement model to partner with patient advocacy and research community members within the field of sickle cell disease (SCD) gene therapy to create new, accessible patient education materials (PEMs) about SCD gene therapy.

Objective: The objective of this study was to develop PEMs for SCD gene therapy and study the process of deliberative community engaged research.

Methods: A study of the experiences of a multi-disciplinary group of participants including patients, patient advocates, health professionals, gene therapy researchers, industry and government members using a deliberative community engagement model to develop new PEMs. Multiple types of data were collected including survey data (three-time points), video and audio recordings of deliberations, and focus groups. Mixed-methods analysis was used to evaluate the experience of participating in the deliberative community engagement approach.

Conclusion: The experiences and views of participants reveal both the strengths and challenges of using the deliberative community engagement model to involve participants of diverse backgrounds, life experiences, and expertise. Project participants identified four key focus areas for PEM development: (1) types of gene therapy and alternative curative approaches, (2) social context of gene therapies, (3) impact on medical treatment (risks and benefits), and (4) participation in gene therapy clinical trials. The findings from this project provide key insights on the strengths and challenges of a deliberative community engagement model that will be increasingly relevant as the field of gene therapy grows globally.

Background: In 2023, the FDA approved two gene therapies for sickle cell disease (SCD), one of which follows a standard gene therapy protocol and the other a gene editing (CRISPR/Cas9) approach. Other gene therapy protocols for conditions relating to public health continue to advance and are being discussed in academic and professional circles. This review examines the pace of public health-related gene therapy and gene editing development since the publication of a key British white paper dealing with the pace of fruition in this field.

Summary: Gene therapy developments related to public health fit into three overarching baskets: (1) gene therapy and editing for rare, single-gene disorders (e.g., homozygous familial hypercholesterolemia and hereditary amyloidosis polyneuropathy); (2) gene therapy and editing for high prevalence conditions (e.g., SCD); and (3) genetic engineering and gene editing of mosquitoes transmitting tropical disease. While the protocols listed in this purposive inspection largely center around phase III (comparing treatments), with several in phase II (establishing efficacy) and phase I (assessing safety), costs of actual administration can span USD 2.1 to 3.1 million. By comparison, conventional SCD treatment runs between USD 22,500 and USD 200,000 per year for its most severe forms. Expert and public buy-in of gene editing of mosquitoes to reduce tropical disease and for human germline gene editing contain many caveats, with public health serving a useful monitoring and filtering role for how a technology might be deemed permissible.

Key messages: Gene therapy has advanced beyond the stage where possible consequences serve as an automatic barrier to mainstream use, moving it closer to British white paper objectives. Ethical and feasible adoption by public health, taking into account population needs, will most likely happen through a combination Medicaid and Medicare, as opposed to the system governing newborn screening, under arrangements similar to the Centers for Medicare and Medicaid Services' coverage under evidence development program. Vector gene drives to alleviate tropical disease should remain privately financed, with this type of financing also being used for the vast majority of gene therapies entering the market. Though the criteria for germline applications continue to evolve, in the end such applications do not serve public health purposes. Academic public health has a monitoring role to play as relevant gene therapy and gene editing trials evolve; public health practice a referral and field monitoring role in the T3 (implementation) and T4 (population outcomes) translational research phases for the few applications that could justifiably receive public funding and public health support.