Journal of Community Genetics最新文献

Underserved patients face substantial barriers to receiving cancer genetic services. The Cancer Health Assessments Reaching Many (CHARM) study evaluated ways to increase access to genetic testing for individuals in underserved populations at risk for hereditary cancer syndromes (HCS). Here, we report the successful implementation of CHARM in a low-resource environment and the development of sustainable processes to continue genetic risk assessment in this setting. The research team involved key clinical personnel and patient advisors at Denver Health to provide input on study methods and materials. Through iterative and collaborative stakeholder engagement, the team identified barriers and developed solutions that would both facilitate participation in CHARM and be feasible to implement and sustain long term in clinical care. With a focus on infrastructure building, educational modules were developed to increase awareness among referring providers, and standard methods of identifying and managing HCS patients were implemented in the electronic medical record. Three hundred sixty-four DH patients successfully completed the risk assessment tool within the study, and we observed a sustained increase in referrals to genetics for HCS (from 179 in 2017 to 427 in 2021 post-intervention). Implementation of the CHARM study at a low-resourced safety net health system resulted in sustainable improvements in access to cancer genetic risk assessment and services that continue even after the study ended.Trial registration NCT03426878.

The Genetic, Undiagnosed and Rare Disease community faces a range of hurdles to live their 'best life' including physical, social and psychological barriers. They are also resilient and experiential experts with insight into what works and what could work for them. In this study, we aimed to identify and prioritise practical interventions the Genetic, Undiagnosed and Rare Disease community report could help them to 'live well'. Using a three-stage approach, we first analysed data from a year-long Genetic, Undiagnosed and Rare Disease journal study to record all the practical interventions reported, either trialled or proposed. Second, after grouping the interventions (n = 19) into four themes (support for individuals with GUaRD; support for carers of people with GUaRD; education/employment; transition), we presented the interventions to members of the GUaRD community (people with GUaRD, their carers and peer support group members) across three focus groups (n = 13). Focus group transcripts were analysed for refinements to the interventions, barriers and/or enablers to enacting them and for any additional interventions suggested. From this analysis, the interventions were grouped to identify specific actionable activities (n = 8). Finally, these eight interventions were discussed in a workshop with the GUaRD Community Advisory Group and prioritised using the APEASE framework. Prioritised interventions targeted a range of stakeholders and included creating a lived experience video library, supporting peer support groups with grant applications, and educating clinicians about referring to peer support groups. Further research is now required to test these findings before trialling and evaluating an intervention to measure the impact on the GUaRD community.

Background: Patient-facing digital technologies may reduce barriers to and alleviate the burden on genetics services. However, no work has synthesised the evidence for patient-facing digital interventions for genomics/genetics education and empowerment, or to facilitate service engagement more broadly. It is also unclear which groups have been engaged by digital interventions.

Aim: This systematic review explores which existing patient-facing digital technologies have been used for genomics/genetics education and empowerment, or to facilitate service engagement, and for whom and for which purposes the interventions have been developed.

Methods: The review adhered to the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines. Eight databases were searched for literature. Information was extracted into an Excel sheet and analysed in a narrative manner. Quality assessments were conducted using the Mixed Methods Appraisal Tool.

Results: Twenty-four studies were included, of which 21 were moderate or high quality. The majority (88%) were conducted in the United States of America or within a clinical setting (79%). More than half (63%) of the interventions were web-based tools, and almost all focussed on educating users (92%). There were promising results regarding educating patients and their families and facilitating engagement with genetics services. Few of the studies focussed on empowering patients or were community-based.

Conclusion: Digital interventions may be used to deliver information about genetics concepts and conditions, and positively impact service engagement. However, there is insufficient evidence related to empowering patients and engaging underserved communities or consanguineous couples. Future work should focus on co-developing content with end users and incorporating interactive features.

With genomic testing being increasingly integrated into every day clinical practice and a wide range of practitioners ordering genetic tests, it is important that the scope of the genetic counselling role continues to evolve alongside these changes. We present an exemplary role for genetic counsellors in a highly specialised service within England's National Health Service for people who have or are suspected to have rare genetic types of Ehlers Danlos syndrome. The service employs genetic counsellors and consultants from the fields of genetics and dermatology. The service also works closely with other specialists and related charities and patient organisations. The genetic counsellors in the service provide routine genetic counselling such as diagnostic and predictive testing, but their role also includes the writing of patient literature and emergency and well-being resources, delivering workshops and talks, and the development of qualitative and quantitative research on the patient experience. Data from such research has informed the development of patient self-advocacy and supportive resources, raised awareness amongst healthcare professionals and enhanced the standard of care and outcomes for patients. The service aims to be an example of innovation and accessibility and provides a model that can be potentially adopted by other highly specialised services of rare genetic diseases.

Phenylketonuria (PKU) is the most prevalent inborn error of amino acid metabolism, necessitating patients to strictly restrict dietary phenylalanine. As this can be a confusing and concerning diagnosis, patients and loved ones will likely be drawn to learn more. A critical factor for citizens to harness the health-related digital information is to ensure that it is easy to read. This study assessed the readability of 100 digital articles related to PKU and explored the effect of the source of online information on the readability of these articles. For each article, 5 readability tests were conducted using on-line readability software. From the 100 assessed websites, 34% were commercially sourced. Of the remaining 66 sites, 40% had.org and 17% had.gov extensions. All 5 tests confirm that a large majority of the sample was written at an unacceptable reading level. In fact, over two-thirds of the sample received a readability score within the difficult range for three of the tests, while the remaining two deemed 49% and 45% of the sample as difficult to read, respectively. Commercially sourced websites were deemed to be more difficult to read than the other sites with respect to the two of the five measures. Despite the large amount of PKU information online, most of it may be incomprehensible to the average person and thus miss the mark in helping patients and caregivers manage their condition. Opportunities exist for authors of digital health promotional information to effectively achieve their goal by using comprehensible, easy-to-read language.

Alzheimer's f disease (AD) affects approximately 250,000 Ontarians, a number that is expected to double by 2040. The Ontario Neurodegenerative Disease Research Initiative has developed an in-province genetic test (ONDRISeq), which currently runs in Ontario in an experimental capacity. The aim of this study is to estimate the costs and health outcomes associated with ONDRISeq to diagnose AD relative to out-of-country (OOC) testing (status quo). A cost-utility analysis was developed for a hypothetical cohort of 65-year-olds at risk of AD in Ontario over a 25-year time horizon. Costs and health outcomes (quality-adjusted life years (QALYs)) were assessed from a healthcare payer perspective. Cost-effectiveness was assessed with a $50,000 cost-effectiveness threshold. Probabilistic sensitivity analyses were conducted to evaluate parameter uncertainty. ONDRISeq saved $54 per patient relative to OOC testing and led to a small QALY gain in the base case (0.0014 per patient). Results were most sensitive to testing costs, uptake rates, and treatment efficacy. ONDRISeq represented better value for money relative to OOC testing throughout 75% of 10,000 probabilistic iterations. Using ONDRISeq is expected to provide health system cost savings. Switching to ONDRISeq for AD genetic testing in Ontario would be dependent on the ability to accommodate the expected testing volumes.

In Japan, cancer education has been initiated with children as a measure against cancer. Cancer genome medicine, which is a social implementation, includes aspects of genetic medicine. For this reason, it is assumed that content related to "genetics" is also necessary in cancer education. To investigate the actual situation regarding the teaching of genetics in cancer education, we conducted a questionnaire survey of schoolteachers involved in cancer education; these schoolteachers belonged to the model school of the Cancer Education Comprehensive Support Project. Regarding genetic content, we asked questions related to two aspects: "the molecular genetic mechanisms of cancer" and "the phenomenon of sharing cancer in the family." The results showed that about 60% of the teachers had experience teaching content related to the molecular genetic mechanisms of cancer and the phenomenon of sharing cancer in the family. While many teachers felt that teaching genetics in cancer education was necessary, they also felt that there were difficulties in doing so: 65.2% for content related to the molecular genetic mechanisms of cancer and 70.8% for that related to the phenomenon of sharing cancer in the family. It is important to properly treat cancer as a genetic disease, and it is necessary to examine government curriculum guidelines and establish a collaborative system among other subjects. In addition, the involvement of specialists in genetic medicine and psychosocial support is expected to improve teachers' genetic literacy as well as to communicate with students with consideration for their family history.

People who are aware that they are gene-positive for Huntington's disease (HD) may face an array of personal, relationship, social, financial and employment challenges prior to the onset of the disease. These challenges have been associated with increased psychological problems such as anxiety and depression. Information and support for people with pre-symptomatic HD is indicated, but there is a scarcity of research and service models to inform psychological interventions. We trialled an intervention strategy involving psychoeducation forums designed specifically for pre-symptomatic HD. In phase I of the study, we asked people with pre-symptomatic HD to identify their uppermost needs for information. Phase II involved the delivery of this information via a series of forums. The forums also provided an opportunity for interaction among the participants. Three forums were attended by 88 people with pre-symptomatic HD and significant others. Analysis of post-forum feedback questionnaires indicated high levels of satisfaction with the forums' structure, content and relevance, and notably, the pre-symptomatic specificity of focus. Additional qualitative data from recordings of forum discussion groups revealed that participants greatly valued the opportunity to meet similar others, and share their concerns and strategies for addressing these concerns. There was an abundance of requests for more forums on a wide range of relevant topics. It is recommended that this model of intervention may be of value for implementation in other HD services or community groups.

African American (AA) and Latino populations are impacted disproportionately by cancer incidence and mortality compared to the general US population. Contributing to these rates are multiple inheritable cancers that impact both men and women. Some of these diseases may be detected through genetic counseling and germline DNA testing; however, AA and Latinos are unaware and have limited knowledge and thus significantly underutilize these services and technologies. Research to detect influencing factors to testing uptake has also been slow due to multiple factors. The research team followed a community-based participatory research (CBPR) approach and worked with a Community Advisory Board composed of cancer survivors and co-survivors to design the exploratory study. Six focus groups were held with a pilot sample of African Americans and Latinos who self-reported to be at-risk for cancer (N = 53). The study was held over a 2-month period where attitudes, perceptions, and beliefs about cancer risk and preference regarding cancer-related genetic counseling and testing risk communication were explored. Themes that emerged included (1) the lack of knowledge about cancer-related genetic counseling and testing; (2) cancer is feared often; (3) cancer-related genetic testing was perceived as something that could help but was also perceived as unnecessary testing that exposed individuals to medical harm; and (4) benefits to test were perceived as favorable for medical personnel but not for the patient. Implications of the study provide a unique lens to explore how lived experiences among AA and Latinos may inform strategic risk communication about cancer-related genetic counseling and testing and help advance cancer health equity. Participants viewed cancer genetic testing as important cancer risk prevention strategies. Identification of perceptions of cancer risk and cancer-related genetic counseling and testing in collaboration with members of the community is needed to bolster communication efforts among these populations.

As precision medicine approaches are implemented, cancer treatment decisions have come to require comprehension of genetic tests and their role in risk stratification and treatment options. Acceptance and implementation of precision medicine requires patient understanding of numeracy, genetic literacy, health literacy, and medical trust. Implementing precision medicine in a US federally qualified community health center (FQCHC) setting has received little attention. Using a mixed-methods approach, we sought to identify patient-level factors influencing the understanding of cancer risk and precision medicine among FQCHC patients. We enrolled 26 English-speaking adults aged 40-79 years. Participants enrolled in focus groups and completed surveys to assess patient-level understanding of precision medicine, numeracy, and health literacy. The majority of participants were female (77%) and self-identified as African American (89%). Approximately one-third reported having a high school degree or less. While health literacy was generally high, 42% felt that genes or genetics had little impact on health and most (69%) reported little familiarity with precision medicine. Many participants reported that trust in their providers was extremely or very important when receiving genetic tests. Numeracy levels were moderate, with nearly half reporting some discomfort working with fractions and 38% finding numerical information only occasionally useful. Findings suggest that patients may lack familiarity with precision medicine concepts relevant for understanding cancer treatment decisions. Future educational efforts may help bridge the gap in patient understanding and facilitate equitable opportunities for precision medicine for all patients, including those seeking care from community health centers.