Journal of Community Genetics最新文献

{"title":"Big advocacy, little recognition: the hidden work of Black patients in precision medicine.","authors":"Lynette Hammond Gerido, Kenneth Resnicow, Elena M Stoffel, Tiah Tomlin, Robert Cook-Deegan, Melissa Cline, Amy Coffin, Jill Holdren, Mary Anderlik Majumder, Zhe He","doi":"10.1007/s12687-023-00673-9","DOIUrl":"10.1007/s12687-023-00673-9","url":null,"abstract":"<p><p>As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genomic research, policy, and practice are necessary for effective translation of genomic science into precision population health and medicine. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was disseminated to three cancer advocacy organizations. Of the 81 survey respondents 49 (60%) self-identified as Black, and 26 (32%) indicated a prior breast cancer diagnosis. Black participants' expressed concerns about genetic testing were evenly distributed between concerns that could be addressed through genetic counseling (24%) and concerns about subsequent use of their genetic data (27%). Patient advocates contributed to contextualization of respondent concerns in terms of community experiences. Although genetic counseling services and policies governing genomic data use are not always accessible to many Black communities, advocates on our research team provided a bridge to discussion of the intersection between respondent concerns and the roles advocates play in filling gaps in access to genetic counseling and data governance. Concerns expressed by Black patients underscore a shared need among all patients for access to education, inclusion in research, and assurances regarding the use and handling of genetic data. Black cancer patients have joined in patient-led efforts to overcome systemic inequities in cancer care to improve their health outcomes through representation. Often their efforts are overshadowed by a relentless burden of continued health disparities. Future research should support their hidden work as a means to reduce barriers and improve representation in genomic databases.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41158034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developing and assessing a kin keeping scale with application to identifying central influencers in African American family networks.","authors":"Caitlin G Allen, Colleen M McBride, Cam Escoffery, Yue Guan, Clarissa Hood, Jingsong Zaho, Gene Brody, Weihua An","doi":"10.1007/s12687-023-00665-9","DOIUrl":"10.1007/s12687-023-00665-9","url":null,"abstract":"<p><p>Promoting family communication about inherited disease risk is an arena in which family systems theory is highly relevant. One family systems' construct that can support promotion of family communication regarding inherited disease risk is the notion of \"kin keeping.\" However, kin keeping and whether it might be capitalized on to encourage family communication about inherited risk has been understudied. The goal of this report was to propose a broadened conceptualization of kin keeping that distinguishes between a structural functional perspective (role conceptualization) and transitional behaviors (skill conceptualization), and to develop and evaluate a scale that would enable this assertion to be tested among a sample of African American community health workers. We developed a scale using four steps: item development using concept analysis and content validity, scale development among a national sample (n = 312), scale evaluation using exploratory factor analysis (n = 52), and scale reduction. We then posed suppositions of associations that would indicate whether the developed kin keeping measure was assessing a specific family role or set of behaviors. Our results included the development of the first quantitative measure of kin keeping (9- and 15-item scales). Model fit for 9-item scale (CFI = 0.97, AFGI = 0.89, RMSEA = 0.09, SMRM = 0.06) and model fit for 15-item scale (CFI = 0.97, AFGI = 0.89, RMSEA = 0.06, SMRM = 0.05). These findings allow us to move toward more rigorous research about the role of kin keeping on information sharing and health decision making. Results also suggest that, contrary to the historical structural functional conceptualization of kin keeping as a role, kin keeping might also be conceptualized as a behavior or set of modifiable behaviors. Ultimately, the kin keeping scale could be used to operationalize kin keeping in various theoretical models and frameworks, guide intervention development to encourage or train for kin keeping behaviors, and test assumptions of whether families vary in the density of kin keeping.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10112556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of maternal attitudes and knowledge about newborn screenings: a Turkey sample.","authors":"Türkan Kadiroğlu, Gamzegül Altay, Gamze Akay, Çiğdem Can Bayrak","doi":"10.1007/s12687-023-00659-7","DOIUrl":"10.1007/s12687-023-00659-7","url":null,"abstract":"<p><p>This study was planned to determine maternal attitudes and knowledge about newborn screening. The universe of the descriptive study consisted of postpartum mothers living in the centers of three provinces in the north and east of Turkey. The sample included mothers who were older than 18 years of age, who could read and write Turkish, whose babies were in the 24th and 72nd hour after birth, and who volunteered to take part in the study. The study was completed with 407 mothers. The data were collected with the face-to-face interview method by the researchers using the \"Descriptive Information Form\" and the \"Maternal Attitudes and Knowledge Survey about Newborn Screening.\" The results showed that 40.3% of the mothers were between the ages of 25 and 30 years, 52.8% received information about newborn screening, 61.1% received this information during pregnancy (27.3% in the first trimester and 33.8% in the last trimester), and most of the information was provided by a healthcare professional (77.8%). Mothers with only one child (p = .001) and those with nuclear families (p = .024) were found to have lower maternal attitudes and knowledge about newborn screening. The study showed that the level of knowledge of Turkish mothers about newborn screening is inadequate in general. In particular, the knowledge and attitudes of mothers with nuclear families, those with one child, and those not having regular check-ups during pregnancy are inadequate. Improving mothers' understanding of screening tests will lead to more successful screening program implementation and earlier detection and care of newborns with a disease.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Population diversity and equity in the genomic era: going global to return to the local.","authors":"Anahí Ruderman","doi":"10.1007/s12687-023-00669-5","DOIUrl":"10.1007/s12687-023-00669-5","url":null,"abstract":"<p><p>Advances in precision medicine depend on the quantity and quality of available genomic information. Various articles alert about the current disparities between the world's regions regarding the amount of genomic information available and the negative impact this will have on global health. The objective of this paper is to review these articles to describe what aspects they emphasize and highlight some issues that remain to be analyzed from the perspective of a \"peripheral\" country. Most of these articles come from central countries, where the need for more diversity in genomics is already detected. Several authors analyze lack of human diversity with focus on national, while others analyze the problem from a global perspective. Depending on the country of origin of the research, the claim for greater diversity has different meanings. Broadly, high-income countries advocate for better coverage looking within the boundaries of their own countries. In other regions of the world, where this field of research has not yet been massively developed, the same need for greater inclusiveness of origins in population genomics studies is not detected. An under-analyzed aspect is the unequal starting point between regions regarding the economic resources available for the development of this field of medicine, and for science and health in general. Although this macroeconomic and social aspect is usually absent in scientific analyses, without it solved, it will be impossible to guarantee that all world populations are equally represented in the panels or genomic databases that serve as input for precision medicine development.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10153023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of the Journal of Community Genetics: Good Health and Wellbeing, Quality Education, and Reduced Inequalities.","authors":"Martina C Cornel, Angus Clarke","doi":"10.1007/s12687-023-00688-2","DOIUrl":"10.1007/s12687-023-00688-2","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71434755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"When and how to enlighten citizens on genetics and hereditary cancer: a web survey of online video viewers.","authors":"Reimi Sogawa, Takahito Wada, Noriyuki Yamashita, Mariko Kochi, Mashu Futagawa, Fumino Kato, Yusaku Urakawa, Yayoi Tanimura, Hideki Yamamoto, Shuta Tomida, Shinji Kosugi, Akira Hirasawa","doi":"10.1007/s12687-023-00663-x","DOIUrl":"10.1007/s12687-023-00663-x","url":null,"abstract":"<p><p>With the rapid expansion of genomic medicine, more citizens are compelled to think about genetics in their daily lives. This study aims to explore appropriate types of educational media and methods to enlighten activities for genetics and hereditary cancer. We presented an 18-min YouTube video on genetics and hereditary cancer to participants at a scientific event, Science Agora 2020, and administered a web questionnaire to investigate their opinions about when and how citizens should start learning about genetics and hereditary cancer. We recruited 133 participants who watched the video, and 26.3% (35/133) responded to the questionnaire. Most of them were evaluated to understand and appreciate the contents of the video. They identified websites, or videos as suitable learning media, irrespective of their sex, age, or profession. They highlighted upper elementary school or junior high school as appropriate educational stages to start learning about genetics and hereditary cancer to facilitate collecting their own genetic information by themselves. Our findings show that educational institutions should provide opportunities to learn about genetics and hereditary cancers, especially for upper elementary school and junior high school students, using learning media, such as videos, depending on their level or demand.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10635176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity.","authors":"Michael Setzer, Jia Yan, Lori Erby, Morgan Similuk","doi":"10.1007/s12687-023-00670-y","DOIUrl":"10.1007/s12687-023-00670-y","url":null,"abstract":"<p><p>Inborn errors of immunity (IEIs) are rare genetic disorders characterized by increased susceptibility to infection and immune system dysregulation. Despite the significant physical toll of IEIs, there is less information on clinical and patient-reported biopsychosocial outcomes and how these individuals psychologically adapt. We invited adults with IEIs or suspected IEIs (sIEIs) enrolled on a protocol at the National Institutes of Health to complete a cross-sectional survey measuring patient-reported biopsychosocial outcomes, psychological adaptation, and perceived control. We received responses from 312 individuals. Levels of adaptation to illness were similar to previously published cohorts of individuals with chronic health conditions. Participants reported significantly increased levels of anxiety, pain, sleep disturbance, and fatigue and significantly lower levels of physical functioning compared to the general population (p < 0.05). Multiple linear regression analysis indicated that perceived present control was significantly positively associated with adaptation (β = 0.26, p < 0.05). We found that perceived present control was significantly associated with psychological adaptation. Individuals with sIEIs in our sample struggled with poorer biopsychosocial outcomes than the general population, although these may not ultimately be directly related to psychological adaptation. Interventions to increase perceived control may be beneficial to this patient population. Clinicians should also consider screening and management for psychological and physical concerns including anxiety, depression, sleep disturbance, pain, and fatigue.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10241236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with adherence to BRCA1/2 mutation testing after oncogenetic counseling in long-surviving patients with a previous diagnosis of breast or ovarian cancer.","authors":"Silvia Actis, Marta D'Alonzo, Luca Pace, Serena Mucciacito, Valentina Elisabetta Bounous, Luca Giuseppe Sgrò, Matteo Mancarella, Annamaria Ferrero, Nicoletta Biglia","doi":"10.1007/s12687-023-00671-x","DOIUrl":"10.1007/s12687-023-00671-x","url":null,"abstract":"<p><p>BRCA1/2 mutations account for 5 to 10% of breast and 15% of ovarian cancers. Various guidelines on BRCA1/2 genetic counseling and testing have been issued, and the criteria have evolved over the years. Oncogenetic counseling aims to inform patients about the possibility and implications of undergoing predictive testing and risk management programs. We analyzed a cohort of 50 subjects with a previous personal history of breast or ovarian cancer who had not been tested for BRCA1/2 mutations at the time of diagnosis but were found eligible according to the most recent guidelines. All patients were offered pre-test oncogenetic counseling and BRCA1/2 genetic testing. The mean time from cancer diagnosis to genetic counseling was over 10 years. We analyzed socio-demographic and psychological parameters associated with the decision to undergo BRCA1/2 genetic testing or the reasons behind the withdrawal. Thirty-nine patients underwent BRCA1/2 genetic testing. Patients who accept the genetic test communicate more easily with family members than those who refuse. Factors associated with test refusal are having a long-term partner and having a negative perception of life. There is a trend, although not statistically significant, toward younger age at cancer diagnosis, more likely to participate in cancer screening programs (71.8% vs. 45.5%), and more likely to have daughters (63.3% vs. 37.5%) in the group that accepted the test. The offer of BRCA testing was well accepted by our study population, despite the many years since the cancer diagnosis. With the perspective of further broadening the access criteria to genetic testing, it is important to understand how to best approach pre-test counseling in long-surviving patients with a previous diagnosis of cancer.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10309942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.","authors":"Rachel Sundstrom, Leah Wetherill, Katie Sapp, Molly McPheron, Melissa Lah","doi":"10.1007/s12687-023-00667-7","DOIUrl":"10.1007/s12687-023-00667-7","url":null,"abstract":"<p><strong>Rationale: </strong>Phenylketonuria (PKU) is a metabolic condition that requires treatment for life. There is increasing evidence that chronic illnesses put strain on relationships and marriages. However, no studies have examined the unique factors that metabolic conditions have on affected individuals and their relationship satisfaction. We surveyed a population of adult patients with PKU and assessed how management, treatment, and lifestyle factors impact their relationship satisfaction.</p><p><strong>Purpose: </strong>The purpose of our study was to explore whether factors such as involvement of partner in PKU management, impact of challenges unique to PKU (e.g., diet, family planning, mood disturbances), and PKU treatment types were associated with the degree of relationship satisfaction.</p><p><strong>Method: </strong>We surveyed adult patients with PKU (n = 82) who were either currently in or had previously been in a long-term relationship. We developed a 78-question survey that included unique questions regarding lifestyle, treatment, and management of their PKU in addition to a validated Relationship Assessment Score. Questions included single choice, multiple choice, and 3 open-ended questions.</p><p><strong>Results: </strong>We found that higher relationship satisfaction was associated with increased partner involvement, increased health, and adherence to recommended PKU treatments. Participants utilizing both diet and pharmaceutical treatment had the highest relationship satisfaction. Finally, participants who reported that their PKU did not contribute to the ending of a previous relationship reported higher relationship satisfaction scores.</p><p><strong>Conclusion: </strong>This study suggests that involvement of partners in the management and treatment of a chronic illness and adherence to recommended treatments can significantly improve relationship satisfaction.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41147911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?","authors":"Embedzayi Madhiri, Haocen Wang, Melodie Tedross, Victoria Vidal, Christine Young, Denise Martinez, Wei-Ju Chen, Patricia Robbins-Furman, Robin Page, Nora Montalvo-Liendo, Lei-Shih Chen","doi":"10.1007/s12687-023-00676-6","DOIUrl":"10.1007/s12687-023-00676-6","url":null,"abstract":"<p><p>The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardless of race or ethnicity. In recent years, the ACMG broadened the guidelines to include expanded carrier screening (ECS) which can screen for 112 conditions. This study seeks to explore the perceptions of pregnant Latina women about the benefits and concerns related to ECS use. Partnering with prenatal clinics in Texas, we conducted semi-structured qualitative interviews with 32 pregnant Latina women in their second or third trimester of pregnancy. NVivo 8 was used to conduct content analysis and emergent coding of the data. Participants reported the benefits of ECS as helping them prepare for the baby's arrival, informing them of the baby's risk for genetic conditions, ensuring the health of their baby, and preventing diseases before birth. The ECS-related concerns expressed by the participants included worries surrounding potential positive ECS results, insufficient knowledge about the genetic diseases screened for by ECS, the accuracy of the ECS, the potential harm ECS may cause the baby, and the affordability of ECS. After weighing both their perceived benefits and concerns, nearly all the participants believed that ECS should be offered to all pregnant women. This study contributes to an understudied research area in the genetic/genomic field. Our findings can help increase the awareness of obstetricians, genetic professionals, and other healthcare providers regarding pregnant Latina women's views on ECS and inform the design of culturally appropriate care as ECS is adopted into routine clinical practice.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10725381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41215906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}