William Evans, Ralph K Akyea, Alex Simms, Joe Kai, Nadeem Qureshi
{"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}
Ellen Ternby, Ove Axelsson, Charlotta Ingvoldstad Malmgren, Susanne Georgsson
{"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":"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}
Heather A Zierhut, Pranathi Kandikonda, Emily M Simon, Cameron Donarski, Megan Kocher, Mariana Ramírez, Crystal Y Lumpkins, Elena R Fisher
{"title":"Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings.","authors":"Heather A Zierhut, Pranathi Kandikonda, Emily M Simon, Cameron Donarski, Megan Kocher, Mariana Ramírez, Crystal Y Lumpkins, Elena R Fisher","doi":"10.1007/s12687-024-00740-9","DOIUrl":"10.1007/s12687-024-00740-9","url":null,"abstract":"<p><p>Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in the use of GC services among minoritized racial/ethnic populations. Community-based participatory research (CBPR) is an approach to integrate diverse patient perspectives to improve GC services. The objective of this review was to assess the current state of international CBPR within GC and genetics services from 2006 to 2023. Five databases were searched for inclusion criteria: 1) published in 2006 or later; 2) peer-reviewed publication; 3) primary research studies; 4) community-based AND participatory research; 5) focused on GC, clinical genetics, testing, and/or genetic service delivery. Criteria for evaluating CBPR involvement used a synthesis of best processes framework. Screening of 3,824 studies identified 16 papers (n = 12 qualitative; n = 1 quantitative; n = 3 mixed methods). The majority of studies were conducted within the U.S. (n = 12), focused on cancer (n = 5), involved the Asian/Pacific Islander community (n = 8), and centered around genetic education (n = 12). Community partners most frequently were involved in recruitment (n = 12) and results analysis (n = 12) and least involved in research question development (n = 7) and product creation (n = 6). Studies varied substantially in the integration of 9 CBPR gold standard principles with only three studies addressing all nine principles. Few CBPR projects in GC services exist and a lack of guidelines to assess the quality of CBPR methodologies hindered the appraisal of studies. CBPR represents a promising approach to improve GC services and should be explored by genetics service delivery researchers.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"583-602"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717620","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}
Rajeshwari Bhat, Bhargavi Nallamothu, Foram Shethia, Vatsal Chhaya, Kapil Khambholja
{"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}
Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen
{"title":"Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany.","authors":"Nils Ammon, Chiara Reichert, Thomas Kupka, Steffen Oeltze-Jafra, Anke Katharina Bergmann, Brigitte Schlegelberger, Dominik Wolff, Beate Vajen","doi":"10.1007/s12687-024-00727-6","DOIUrl":"10.1007/s12687-024-00727-6","url":null,"abstract":"<p><p>Patients with hereditary breast and ovarian cancer (HBOC) are not only concerned about their own health but also about that of their children, grandchildren, and other relatives. Therefore, they have specific needs for information and support. During genetic counseling guidance is provided to HBOC patients and other individuals who may be at risk for familial cancer. The purpose of the study was to identify the needs of HBOC patients during the genetic counseling process that could be addressed by digital solutions. Nine semi-structured qualitative interviews were conducted. Overall, the patients appreciated the personal contact with human geneticists as an especially positive factor in the genetic counseling process. However, patients noted the following needs (1) support in the time following genetic counseling, (2) support before genetic counseling by collecting own and familial medical information, (3) Need for contact options to support services, (4) Need for patient-friendly medical information, (5) Wish for administration-related components in a support app. The results will inform the development of a patient-centered mobile support app.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"603-613"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001012","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":"Do not overlook the possibility of genome-edited somatic cells ending up in the human germline.","authors":"Alexis Heng Boon Chin, Ningyu Sun","doi":"10.1007/s12687-024-00741-8","DOIUrl":"10.1007/s12687-024-00741-8","url":null,"abstract":"<p><p>Most debates on human germline genome editing have limited discussions to just genetic modifications of sperm and eggs (gametes), their precursors within testicular or ovarian tissues, and preimplantation human embryos. What has largely been overlooked is that genome editing of somatic (non-reproductive) cells can also become heritable and can potentially be transmitted to future generations of human offspring under specific experimental conditions, due to the emergence of various new technology platforms. Most notably, the reprogramming of human somatic cells to a pluripotent \"embryonic stem cell-like\" state (i.e. induced pluripotent stem cells), has opened up the possibility that genome editing performed on human somatic cells can also be transmitted to future generations of human offspring when combined with other new technology platforms, such as in vitro gametogenesis, chimeric and synthetic embryos. Additionally, due to high levels of plasticity and extensive tissue remodeling within the human fetus during gestation, it is speculated that genome editing performed on fetal somatic cells intended for fetal gene therapy in utero may be unintentionally transmitted to the human germline. Hence, there should be strict regulatory oversight to ensure that any genome-edited somatic cell that ends up in the human germline via such aforementioned technology platforms does so in strict compliance with relevant legislation and ethical guidelines, especially that pertaining to safety issues with genome editing technology and its potential misuse in human enhancement and eugenics.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"749-752"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394191","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}
Purva Reddy Jayaram, Sahana Devadas, Paridhi Jain, Gayathri Devi C
{"title":"Knowledge, attitude and acceptance regarding bone marrow transplantation in caregivers of beta-thalassemia major patients.","authors":"Purva Reddy Jayaram, Sahana Devadas, Paridhi Jain, Gayathri Devi C","doi":"10.1007/s12687-024-00739-2","DOIUrl":"10.1007/s12687-024-00739-2","url":null,"abstract":"<p><strong>Objective: </strong>Knowledge, Attitude, and Acceptance regarding Bone marrow transplantation in caregivers of beta-thalassemia major patients.</p><p><strong>Methods: </strong>A cross-sectional study was conducted among the caregivers of pediatric patients with betathalassemia major in blood transfusion centres in Bangalore, India. Their knowledge, attitude, and acceptance regarding bone marrow transplantation were assessed using a validated questionnaire. The study aimed to identify factors that influence caregivers' decision about bone marrow transplantation.</p><p><strong>Results: </strong>The knowledge, attitude, and acceptance of the caregivers towards bone marrow transplantation are shown to depend on gender, education and socio-economic status. The results of this study reveal that male caregivers generally exhibited higher levels of knowledge and had a better attitude towards it as compared to their female counterparts. Higher education and socio-economic status were associated with better knowledge, more favourable attitudes and a higher acceptance towards the procedure.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"673-679"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401605","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}
Erica M Bednar, Roni Nitecki Wilke, Kirsten Jorgensen, Michael T Walsh, Stephanie Nutt, Karen H Lu, Leandro Nóbrega, Aline Patricia Soares Dias De Souza, Gabriela da Silva Oliveira, Carlos Eduardo Mattos da Cunha Andrade, Nelson Purizaca-Rosillo, Pamela Mora, Aldo López Blanco, Lenny N Gallardo-Alvarado, David Cantú-de León, J Alejandro Rauh-Hain
{"title":"Feasibility of an environmental scan-based approach to collecting information about factors impacting cancer genetics services in Latin American countries.","authors":"Erica M Bednar, Roni Nitecki Wilke, Kirsten Jorgensen, Michael T Walsh, Stephanie Nutt, Karen H Lu, Leandro Nóbrega, Aline Patricia Soares Dias De Souza, Gabriela da Silva Oliveira, Carlos Eduardo Mattos da Cunha Andrade, Nelson Purizaca-Rosillo, Pamela Mora, Aldo López Blanco, Lenny N Gallardo-Alvarado, David Cantú-de León, J Alejandro Rauh-Hain","doi":"10.1007/s12687-024-00744-5","DOIUrl":"10.1007/s12687-024-00744-5","url":null,"abstract":"<p><strong>Objective: </strong>Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availability and implementation. Understanding the environmental factors within a country is required to appropriately implement, adapt, and evaluate cancer genetics service delivery models. An environmental scan (ES) is an approach used in business, public health, health care and other sectors to collect information about an environment or system for strategic decision making and program planning. An ES has been previously used to assess cancer genetics clinic-level factors to inform quality improvement efforts in the United States. We assessed the feasibility of using an ES to collect information about factors that may influence cancer genetics service delivery in the outer-most socio-ecological model environmental levels (policy, national agencies, healthcare systems, cultural considerations) in three Latin American countries.</p><p><strong>Methods: </strong>Oncology and Genetics care team members at three participating sites used publicly available sources and personal experiences to complete a data collection form (DCF) that included questions about subtopics: laws and policies, relevant agencies and regulations, health care systems and insurance, and cultural considerations. Time to complete the DCF and DCF completeness were used to measure ES feasibility.</p><p><strong>Results: </strong>Participating sites completed the DCF in 3 months, and most questions (average, 87.0%) were answered. Questions in the cultural considerations subtopic had the fewest answers (average, 77.8%).</p><p><strong>Conclusions: </strong>Overall, the ES was feasible and identified a lack of published literature related to cultural considerations impacting health care and genetics services uptake in Latin America. Environmental factors impact cancer genetics services, and identification of these factors will facilitate future collaborative research and genetics service delivery dissemination efforts.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"681-686"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477468","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}
Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir
{"title":"Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns.","authors":"Mohammad Uzair, Rida Fatima, Shafia Rafiq, Maimoona Jabeen, Hammad Qaiser, Muhammad Arshad, Shahid Bashir","doi":"10.1007/s12687-024-00719-6","DOIUrl":"10.1007/s12687-024-00719-6","url":null,"abstract":"<p><p>A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates the earlier detection of disease and personalized treatment approaches. Therefore, this study aims to assess knowledge, awareness, attitudes, and concerns regarding genetic testing in the Pakistani population. Participants (n = 494) were asked about factors that influence attitudes toward undergoing genetic testing. Furthermore, the study also investigates the concerns and reservations held by the Pakistani population regarding genetic testing. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life. Almost 80% of the respondents know the term, and the majority of them know about genetic testing. 87.7% of respondents agreed to genetic screening before marriage, and 39.9% were willing to undergo genetic testing. More knowledge was significantly associated with a higher likelihood of accepting genetic testing, indicating potential acceptance if integrated into standard procedures. Those with a family history of genetic disorders were more positive in accepting genetic testing. The level of understanding regarding genetic testing also influences the concerns. Cultural or religious beliefs may also affect the decision to accept genetic testing. The survey reveals diverse opinions and knowledge levels regarding genetic testing in Pakistan. While there was generally positive interest, concerns about privacy, accuracy, and cultural factors should be addressed. Education and awareness campaigns could help improve understanding and acceptance.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"631-640"},"PeriodicalIF":1.5,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11645371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336836","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}