Journal of Community Genetics最新文献

{"title":"Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions.","authors":"Graziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, Guilherme Baldo","doi":"10.1007/s12687-024-00759-y","DOIUrl":"https://doi.org/10.1007/s12687-024-00759-y","url":null,"abstract":"<p><p>In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher costs of supplies, underfunding, and limited patient advocacy groups. Establishing collaborations among patient advocacy groups, governments, investigators, and other stakeholders to create action plans can address many of these issues and promote research into rare diseases.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Birth defects reporting and surveillance in India: a narrative review.","authors":"Anita Kar","doi":"10.1007/s12687-024-00760-5","DOIUrl":"https://doi.org/10.1007/s12687-024-00760-5","url":null,"abstract":"<p><p>Mortality attributable to birth defects (congenital anomalies, congenital disorders) is increasing in low and middle-income countries, including India. Surveillance is essential to inform strategies to address these disorders. The objective of this narrative review was to document the birth defects surveillance/reporting systems in India, their current status, structures and reporting formats. The review used empirical analysis of retrieved literature to answer the framed research questions. Publications on birth defects surveillance in India was negligible. Website searches yielded information on two surveillance systems. The WHO South East Asia Region-Newborn-Birth Defects (SEAR-NBBD) surveillance for congenital disorders uses a non-representative sample of hospitals to conduct passive surveillance for eight congenital anomalies. The system has a hierarchy of quality control measures to assure data accuracy. The second system is a child screening and early intervention service (the Rashtriya Bal Swasthya Karyakram, RBSK), which reports data on nine birth defects among children screened at birth, in the first six weeks of life, and till 18 years of age. The RBSK uses existing community-based staff and competency-appropriate screening tools that incorporate defined referral routes to secondary or tertiary level of care. Data from neither of these systems is available in the public domain. The review identified that the strengths and weaknesses of both these systems can be utilized to put in place a potentially sustainable sentinel surveillance for monitoring birth defects in India.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study.","authors":"Rebecca Okyere, Menford Owusu Ampomah, Gloria Achempim-Ansong, Luke Laari, Lillian Akorfa Ohene, Karl Atkin","doi":"10.1007/s12687-024-00738-3","DOIUrl":"10.1007/s12687-024-00738-3","url":null,"abstract":"<p><p>Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"641-652"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366920","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":"Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.","authors":"Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa, Maya Sabatello, Julia Wynn, Hila Milo Rasouly","doi":"10.1007/s12687-024-00736-5","DOIUrl":"10.1007/s12687-024-00736-5","url":null,"abstract":"<p><p>DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving public health. Yet as most individuals pursuing such screening receive negative results, the return of results process must ensure that negative results and their implications are clearly understood. We explored the experiences of adults who received negative results from such screening as part of the Electronic Medical Records and Genomics consortium Phase 3 project (eMERGE-3) at Columbia University. In addition to a laboratory report and a standard counseling letter explaining the negative results, participants were randomized to receive (or not) a vignette explaining the results. A diverse cohort of 437 adult participants completed both baseline and post-result surveys. Many participants reported motivations that did not match the screening goals and included hope for diagnosis and family disease risk. A quarter of participants reported not feeling confident explaining their results to others (n = 105, 24%), and those who did not receive the vignette were less confident than those who did (29% versus 19% respectively; p-value = 0.02). Open-text responses about personal and family members' reactions to the results suggested that some perceived an exaggerated benefit from the negative result and might forgo more appropriate genetic testing. Our findings highlight the complexity of returning negative results and raise concerns that participants might forgo more suitable genetic testing. Future research is needed to compare the efficacy of different forms of ancillary materials on individuals' comprehension of negative results.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"653-664"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381983","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":"Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU).","authors":"Roxanne Janica E Merencilla, Ebner Bon G Maceda, Jeanne Ruth U Basas, Rufus Thomas Y Adducul, Ma Lourdes Francisco, Justin Von Licudo, Leniza G de Castro-Hamoy","doi":"10.1007/s12687-024-00743-6","DOIUrl":"10.1007/s12687-024-00743-6","url":null,"abstract":"<p><p>MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metabolic control. Ideally, plasma amino acid analysis (PLAA) is used to monitor concentrations but is expensive and not widely available in local laboratories. The newborn screening program in the Philippines uses dried blood spot (DBS) analysis as an alternative where only trained healthcare providers are allowed to perform the collection at selected facilities. With the increasing number of patients, DBS monitoring has been noted to be delayed due to multiple factors. This issue became even more evident during the COVID-19 pandemic where high-risk patients need to travel outside for blood collection. The study used a cross-sectional study design to determine the primary caregivers' perspective on DBS self-sampling for patients with MSUD and PKU and the acceptability of the samples collected. This was done through a series of collection training, pre-/post- surveys, and 10-item questionnaire, and an in-depth 1-on-1 interview for thematic analysis. The acceptability of samples was processed and evaluated by the newborn screening laboratory. At-home DBS collection by primary caregivers was found to be acceptable. The provision of knowledge and routine collection training by the medical team aids in the increase of sample acceptability as well as a source of empowerment in being equipped to take care of their child. It is highly recommended that DBS samples collected by caregivers be considered acceptable for more time and cost-saving monitoring of the patients' metabolites. This practice also promotes timely and appropriate management which can lead to better patient health outcomes.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"699-710"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477467","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":"Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry.","authors":"Crystal Lederhos Smith, B Connor Stark, McKenna Kobalter, Mary Carol Barks, Mariko Nakano-Okuno, Ellen Wager Romesburg, Nita Limdi, Thomas May","doi":"10.1007/s12687-024-00747-2","DOIUrl":"10.1007/s12687-024-00747-2","url":null,"abstract":"<p><p>Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for several racial demographics. Research has cited intertwined fears of racial discrimination and medical mistrust as contributing factors. This study aimed to identify key factors to establishing trust in medical and genomic screening and research among African Americans and White Americans. Participants completed online focus groups and resulting transcripts were analyzed using a qualitative descriptive approach, with content analysis methods based on recommendations by Schreier. Fifteen African Americans and twenty-three White Americans participated in the study, 63% of which were female. The mean age of participants was 38.5 (SD = 16.6). The Overarching Theme of Trust is Context Dependent was identified, along with the following five themes describing elements influencing trustworthiness for our participants: (1) Professional Experience, Education, and Training Bolster Trust; (2) Trust Depends on Relationships; (3) Cross-checking Provided Information is Influential in Establishing Trust; (4) Trust is Undermined by Lack of Objectivity and Bias; and (5) Racism is an Embedded Concern and a Medical Trust Limiting Component for African Americans. To effectively address mistrust and promote recruitment of diverse participants, genomic research initiatives must be communicated in a manner that resonates with the specific diverse communities targeted. Our results suggest key factors influencing trust that should be attended to if we are to promote equity appropriately and respectfully by engaging diverse populations in genomic research.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"723-733"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645391/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569899","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":"Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.","authors":"William Evans, Ralph K Akyea, Alex Simms, Joe Kai, Nadeem Qureshi","doi":"10.1007/s12687-024-00742-7","DOIUrl":"10.1007/s12687-024-00742-7","url":null,"abstract":"<p><strong>Background: </strong>Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndrome (LQTS) is a rare inherited cardiac condition associated with significant morbidity and premature mortality. In this study, we examine LQTS as an exemplar disease to assess if clinical features recorded in the primary care EHR can be used to develop and validate a predictive model to aid earlier detection.</p><p><strong>Methods: </strong>1495 patients with an LQTS diagnostic code and 7475 propensity-score matched controls were identified from 10.5 million patients' electronic primary care records in the UK's Clinical Practice Research Datalink (CPRD). Associated clinical features recorded before diagnosis (with p < 0.05) were incorporated into a multivariable logistic regression model, the final model was determined by backwards regression and validated by bootstrapping to determine model optimism.</p><p><strong>Results: </strong>The mean age at LQTS diagnosis was 58.4 (SD 19.41). 18 features were included in the final model. Discriminative accuracy, assessed by area under the curve (AUC), was 0.74, (95% CI 0.73, 0.75) (optimism 6%). Features occurring at significantly greater frequency before diagnosis included: epilepsy, palpitations, syncope, collapse, mitral valve disease and irritable bowel syndrome.</p><p><strong>Conclusion: </strong>This study demonstrates the potential to develop primary care prediction models for rare conditions, like LQTS, in routine primary care records and highlights key considerations including disease suitability, finding an appropriate linked dataset, the need for accurate case ascertainment and utilising an approach to modelling suitable for rare events.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"687-698"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477469","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 influencing pregnant women's decision to accept or decline prenatal screening and diagnosis - a qualitative study.","authors":"Ellen Ternby, Ove Axelsson, Charlotta Ingvoldstad Malmgren, Susanne Georgsson","doi":"10.1007/s12687-024-00746-3","DOIUrl":"10.1007/s12687-024-00746-3","url":null,"abstract":"<p><strong>Background and objective: </strong> Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is important that pregnant women receive adequate counselling to make informed decisions regarding prenatal diagnosis. The aim of this study was to explore what factors influence pregnant women's decision-making process when accepting or declining prenatal screening and diagnosis.  Methods: A qualitative study using inductive qualitative content analysis. Individual, semi-structured phone interviews were carried out during a five-month period in 2016-2017 with 24 pregnant women in the first trimester, living in a medium-sized Swedish city.</p><p><strong>Findings: </strong> Two main themes emerged: (1)\"Individual factors - The women's experiences, perceptions and values\" with three categories \"Attitude towards anomalies\", \"Worry and need for reassurance\", \"Self-perceived risk\" and (2)\"External factors - The women's perception of the test and others' views\" with two categories \"Test characteristics\" and \"Influence from others\".  Conclusions: Pregnant women's decision-making process regarding prenatal tests is multidimensional, affected by both individual factors such as experiences, perceptions and values, and external factors such as test characteristics and influence from others. Information about both test characteristics and the conditions tested is of help pregnant women in the decision-making process since it provides a better understanding of how having a child with the condition in question can affect them and their family. It is important that healthcare professionals giving information about and offering prenatal tests for chromosomal anomalies are aware of how their attitudes can influence women's decisions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"711-721"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562898","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":"Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.","authors":"Rajeshwari Bhat, Bhargavi Nallamothu, Foram Shethia, Vatsal Chhaya, Kapil Khambholja","doi":"10.1007/s12687-024-00749-0","DOIUrl":"10.1007/s12687-024-00749-0","url":null,"abstract":"<p><p>Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient's usage. This scoping review assessed the current scenario and analysed the challenges in implementing gene therapies for USH. A literature search was conducted using PubMed and Google Scholar through an artificial intelligence (AI) tool, MaiA, focusing on relevant publications from the last 10 years. We followed the methodological guidance of the Joanna Briggs Institute (JBI) and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) checklist. Of 517 records, 51 reports were considered for final analysis. It identified and categorized challenges across four key areas: preclinical, clinical, economic, and regulatory. Of all, many reports (30) highlighted the preclinical challenges where the USH gene development process encountered roadblocks. Specifically, preclinical challenges included the lack of suitable in-vivo models and effective delivery methods. Clinical challenges focused on establishing clear endpoints and long-term safety and efficacy. Economic challenges addressed diagnostic issues and manufacturing hurdles, while regulatory challenges focused on expedited evaluation processes and guidance for clinical development. Our analysis uncovered key barriers to clinical translation of USH gene therapy and strategies to address them. Researchers are employing innovative approaches, including novel delivery methods such as minigenes and nanoparticles, inventive clinical trial designs, cohesive regulatory frameworks, strategic market assessments, and collaborative research initiatives. These efforts hold promise for impactful disease-cure and modifying interventions ultimately enhancing the quality of life for USH patients.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"735-747"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645336/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644760","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":"Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.","authors":"Kubra Muge Celik, Canan Ceylan Kose, Derya Kaya, Koray Tekin, Fatma Silan","doi":"10.1007/s12687-024-00737-4","DOIUrl":"10.1007/s12687-024-00737-4","url":null,"abstract":"<p><p>Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressive muscle weakness. The carrier frequency of SMN1 gene variants, including variant and copy number variations, is estimated to be around 1 in 50 people, while the global prevalence of SMA is 1-3 per 10,000 live births. In response to the increasing carrier proportion, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Notably, recent SMA cases have been observed in the children of healthcare workers who did not undergo carrier screening, prompting us to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001) and among non-physician healthcare professionals compared to physicians (p < 0.0001). Additionally, a serious lack of knowledge was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"665-672"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401606","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}