Public Health Genomics最新文献

Introduction: Employees considering participation in workplace genetic and/or genomic testing (wGT) as part of workplace wellness programs should be aware of legal protections of their personal genetic information. Given the relevance of the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA) for informed decision-making, employers offering wGT should ideally inform employees of these health policies prior to collecting any genetic data. It is unclear, however, whether and to what extent such information is being provided. Company websites provide one important resource for making employees - and the public at large - aware of important health policies governing workplace wellness programs in general, and wGT services in particular.

Method: We systematically reviewed the websites of 420 companies (including 140 privately held companies from the 2019 Forbes list of largest privately held companies, 140 publicly held companies from the 2019 Forbes list of largest publicly held companies, 104 hospitals/hospital systems, and 36 companies that had evidence that they offer/have offered wGT) offering wGT services to determine if they included reference to HIPAA and GINA.

Results: Our search for wGT programs on company websites found that 50 of 420 companies had evidence of offering wGT. We found 32/50 (64%) mentions of HIPAA and no mentions of GINA.

Conclusions: It is imperative that HIPAA and GINA are upheld by both vendors and employers. Accessible and understandable information on these policies is needed for employees to analyze the benefits and risks of participating in wGT.

Introduction: In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical and two laboratory teams. While there was high level national guidance to support implementation, it was unclear how the service had been delivered in practice. This study evaluated pES service implementation across England, using the major system change (MSC) framework to explore links between implementation approaches and outcomes.

Methods: We conducted a national mixed-methods multi-site study of 17 clinical genomics services, their linked fetal medicine services and two laboratories delivering the pES service. The MSC framework informed the study. Key documents, semi-structured interviews (eight national service developers, 55 staff), and surveys (n = 159 staff) were analysed using inductive and deductive thematic analysis and descriptive statistics. Findings were integrated.

Results: Implementation was influenced by a range of factors including evidence of benefit, laboratory service reconfiguration, and stakeholder support. Local implementation approaches varied; seven models of service delivery were identified. Key differences between models included leadership, staffing, and multidisciplinary team approaches. Local staff factors (e.g., time, capacity, attitudes), pES service factors (e.g., communication/collaboration, logistics), and organisational factors (e.g., infrastructure and previous experience) influenced implementation.

Conclusion: We have identified multiple barriers and facilitators that are associated with implementing a major change to genomic services in a complex national healthcare system. This study highlights which models of pES may work in practice and why. Findings will inform future development of the pES service.

Introduction: Rapid advancements in genomic testing have revolutionised cancer care diagnostics and treatment. However, keeping pace with the evolving genomics knowledge is a challenge for oncologists who are not genomic experts. This detrimentally impacts on equitable patient access to related services and benefits which require training in genomics. In Australia, cancer incidence, survival, and mortality rates are significantly worse in the most socioeconomically disadvantaged areas compared to the least disadvantaged areas. Guided by implementation science methods, the research aimed to determine how to support oncologists with varying levels of genomic expertise to tailor optimal treatment decisions and deliver a high-quality service, across diverse geographical locations.

Methods: We used a novel approach combining clinician intuition and implementation science theory to co-design service interventions (i.e., service models) and associated implementation strategies to inform operationalisation. Phenomenology and principles of co-design guided two phases of data collection with two separate cohorts of oncologists delivering care to advanced cancer patients. Phase 1 interview data were coded thematically to develop the service models, while phase 2 focus group data were used to identify implementation strategies to support service model operationalisation. The Consolidated Framework for Implementation Research (CFIR) informed phase 1 and 2 data analysis.

Results: Phase 1 established three overarching themes and nine subthemes: (1) access - potential for inequitable patient access by centralising genomic expertise, (2) indicators for test use - identifying suitable patients for complex genomic profiling (CGP) testing, and (3) supporting use of results - confidence to discuss results, particularly from germline and somatic testing. Five challenges were prioritised, mapped to the CGP clinical pathway, and coded to 11 unique CFIR constructs. Across all five prioritised challenges, we recorded 19 intuitive and generated 21 theory-informed strategies. The development of three service models (i.e., centralised expert, local super user, and point of care resources) arose through considering these strategies in combination with the study teams' broader experiences with the iPREDICT trial. In phase 2, we identified 11 implementation challenges, mapped to 7 CFIR constructs, and 11 intuitive and 20 theory-informed strategies for service model operationalisation.

Conclusion: The service models generated from our study are currently being tested in a multi-centre implementation study to evaluate feasibility, effectiveness, acceptability, sustainability, and scalability.

Introduction: Given that sickle cell disease (SCD) is a heritable condition, it is important for people who have sickle cell trait (SCT) to be aware of their status and understand their risks. This paper explores the information, education, and support needs of families whose child screens positive for SCT through newborn screening.

Methods: We interviewed multiple types of key informants, including family members, healthcare providers, and representatives from national SCD organizations and community-based organizations, and state newborn screening programs.

Results: We found that notification and counseling related to SCT are often deprioritized and less timely than for SCD. Few systems track follow-up for these infants and ensure that the results reach families as SCT does not require immediate treatment. Parents reported receiving minimal follow-up and health-related information from healthcare providers.

Conclusion: Increasing patient-provider communication about SCT and connecting families to services could have a lasting impact on generational health.

Introduction: Despite guidelines discouraging pediatric genetic testing for adult-onset hereditary cancer risk, direct-to-consumer (DTC) companies make them available to children's parents. This study examined the perspectives of high-risk parents toward such testing.

Methods: Interviews were conducted with N = 30 parents (children ages 10-21) carrying pathogenic variants in cancer-causing genes available for detection through DTC tests. Interviews were analyzed inductively using a standardized methodology to identify prominent themes.

Results: Three major themes were identified: (1) high-risk parents' motivations for pediatric genetic testing, (2) risks and benefits of pediatric genetic testing, and (3) parental involvement of children in decision-making about testing. Although only n = 5 parents (17% of the sample) reported that their children were genetically tested (n = 3 through a DTC company, n = 2 through a clinician), 73% endorsed pediatric genetic testing for general health reasons. Many parents (53%) expressed a preference for clinical testing over DTC testing. While parents recognized the limits of DTC testing, some (40%) expressed that it should remain available to high-risk parents for the purpose of identifying cancer risks in their children. Children's maturity (70%), interest in testing (77%), and anticipated responses to testing (43%) were cited as important decisional considerations.

Conclusion: Few high-risk parents utilized DTC testing for their children. Parents generally preferred the prospect of clinical testing, but some believed DTC testing should be an option available to families. Clinicians should discuss the risks and benefits of pediatric genetic testing, including DTC, with high-risk parents. This may facilitate more informed decision-making that minimizes potential harms.

Introduction: The National Health Service (NHS) in England is the first to offer whole genome sequencing (WGS) as part of standard care. As a high-income country with a universal healthcare system, England contributes a valuable perspective to global developments in WGS.

Methods: We used an implementation science approach with mixed methods to characterise delivery of WGS for paediatric rare diseases: observations and field notes of consent appointments in clinical genetics and mainstream settings and follow-up qualitative semi-structured interviews with the clinical team. Process maps were developed for each department to identify similarities and variations between sites and thematic analysis of interview data to understand barriers and facilitators.

Results: Data collection occurred in 12 departments (7 genetic, 3 neurology, 1 cardiology, and 1 general paediatric) across 7 NHS Trusts. 26 observations of 21 healthcare professionals were conducted, alongside 19 follow-up interviews. Two master maps were developed - one for clinical genetics and one for the mainstream. We identified 11 steps involved in delivering WGS, including 9 variations and 9 similarities. We identified most variation in the processes related to the "who," "when," "how," and "where" as these were aspects that could be adapted to fit into the specific set-up of the department. Barriers included reluctance to uptake in the mainstream and difficulties tracking samples.

Conclusion: Recommendations include developing standard operating procedures and hiring healthcare professionals responsible for facilitating consent alongside administrative aspects. These would reduce the burden on clinical geneticists and improve turnaround times as well as contribute to streamlining and standardisation of the service.

Introduction: Accumulating evidence suggests that preconception epigenetic changes elevate the risk for obesity throughout the lifespan. Little is known about how parents may react to learning about parent-child epigenetic transmission of obesity risk. Further, it is unclear how trust in science may moderate these responses.

Methods: We compared risk perceptions, behavioral intentions, perceived control, and information-focused ratings of 322 parents with high weight status who were randomized to read an article about the role of preconception epigenetics in intergenerational obesity risk transmission, versus three comparators that focused on genetics, family environment, or an unrelated topic.

Results: Parents had largely similar reactions to the epigenetics, genetics, and family environment articles in terms of perceived credibility, relevance, and threat response, but the epigenetics article failed to produce the elevated cognitive (F(3, 310) = 3.027, p = 0.030) and affective/intuitive (F(3, 310) = 3.05, p = 0.029) risk perceptions observed in response to the genetics and family environment articles compared to control. Science trust moderated individual reactions to the epigenetics concepts, such that those with low science trust exhibited lower attentiveness to the epigenetics article (F(4, 249) = 2.92, p = 0.022), and groups with low, medium, or high science trust exhibited distinct reaction profiles in terms of affective/intuitive risk perception (F(6, 310) = 2.40, p = 0.028).

Conclusion: An audience's trust in science should be considered when tailoring messages about the role of epigenetics in conveying obesity risk from parent to child.

Introduction: Although it is generally agreed that the perspectives of patients should be included in decision-making about genomic data, patients rarely have a significant role in the governance of genomic data archives (GDAs). Guidance on the successful implementation of patient involvement (PI) in the governance of GDAs is lacking. This study explores the perspectives of German patients on PI in the governance of GDAs and how these perspectives can be implemented to have an impact on governance.

Methods: We conducted 2 online deliberative forums with 26 members of the cancer and rare diseases (RD) communities in Germany. The forums were analyzed qualitatively. The findings were discussed in a follow-up dialogue event with 17 of the participants and 9 members of a GDA (The German Human Genome-Phenome Archive, GHGA) (n = 26). Two patient coresearchers were involved in all phases of the study.

Results: Five themes were identified: (a) motivations for PI; (b) concerns about PI; (c) areas of governance in which PI is required; (d) resources necessary for implementation of PI; and (e) the form PI should take.

Conclusion: For PI in GDAs to be meaningful, patient perspectives on the specific contextual aspects of GDAs should be actively sought. Patients' views on representation affect what form of PI they prefer and whether they experience the representation as legitimate. We discuss how the suggestions from the participants of this study were taken up in the governance policy of the GHGA.

Introduction: Familial hypercholesterolemia (FH), a genetic condition that causes lifelong exposure to elevated LDL-cholesterol, can lead to severe life-threatening cardiac outcomes if untreated. Often undiagnosed, widespread implementation of FH screening programs is needed. The IMPACT-FH pragmatic research trial developed and tested a cascade testing program, which included three implementation strategies. Implementation strategies require modification across geographic locations and institutions.

Methods: Here we report the modifications made throughout the IMPACT-FH cascade testing program for at-risk relatives of patients with FH from Geisinger's MyCode Community Health Initiative (MyCode®) and MyCode Genomic Screening and Counseling Program. The program was introduced to FH probands upon return of their genetically confirmed FH results from MyCode. The implementation strategies employed included an informational packet, chatbots, and direct contact. Modifications to the IMPACT-FH cascade testing program (intervention) and its implementation strategies were extracted from meeting recordings and interviews. We used FRAME-IS to code the nature, goal, timing, and impact of the changes on the program.

Results: In total, eleven modifications were made. All modifications were initiated during the implementation phase of the study, were unplanned/reactive, and were made to optimize the fit of the program and strategies for FH probands and their families. Modifications were made to the overall IMPACT-FH cascade testing program (n = 3), the chatbot strategies (n = 3), and the direct contact strategy (n = 5). No modifications were made to the informational packet strategy.

Conclusions: Flexibility and reactive modifications played a key role in the successful implementation of the cascade testing program within the IMPACT-FH pragmatic research trial.