Breanne Prindeville, Brittany M Szymaniak, Samantha E Greenberg, Adam B Murphy, Ashley E Ross, Debra Duquette
{"title":"\"Hope at a better chance\": perspectives on genetic counseling and testing among black individuals with prostate cancer.","authors":"Breanne Prindeville, Brittany M Szymaniak, Samantha E Greenberg, Adam B Murphy, Ashley E Ross, Debra Duquette","doi":"10.1007/s12687-025-00785-4","DOIUrl":"10.1007/s12687-025-00785-4","url":null,"abstract":"<p><p>Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Racial disparities persist in the understanding and uptake of genetics services, while the perspectives of Black individuals with PCa regarding genetic counseling and germline genetic testing for inherited cancer risk (GC/GT) remains understudied. This qualitative study explored attitudes, facilitators, and barriers to awareness, interest, and uptake of GC/GT among Black individuals with PCa. Eight individuals who self-identified as African American and/or Black with a personal history of PCa participated in individual telephone interviews using a semi-structured interview guide. Interview transcripts were analyzed using both an inductive and deductive coding approach, constant comparison, and selective coding. Five major themes were identified: (1) uncertainty surrounding personal relevance of GC/GT, (2) family influence and impact of GC/GT, (3) healthcare providers and institutions as gatekeepers of GC/GT, (4) community identity, influence, and impact of GC/GT, and (5) systemic barriers to GC/GT exemplify larger structural constraints. A key finding was the influence of community, a collective identity among Black individuals and a desire to benefit the Black community, in motivating research participation and pursuit of GC/GT to lessen racial disparities in PCa. Individual, interpersonal, institutional, community, and structural factors are both barriers and facilitators to awareness, interest, and uptake of GC/GT. Multilevel interventions such as communicating personal, familial, and community implications of GC/GT, improving patient-provider relationships and genetics education, and addressing systemic barriers are necessary to increase efficacy, utility, and equity in GC/GT.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"335-349"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651351","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":"Genetic testing education needs among parents of children with autism spectrum disorder in Taiwan: a qualitative investigation.","authors":"Xiao Meng, Ssu-Yu Yeh, Zihan Zhang, Tse-Yang Huang, Lei-Shih Chen","doi":"10.1007/s12687-025-00795-2","DOIUrl":"10.1007/s12687-025-00795-2","url":null,"abstract":"<p><p>As there was a gap in research focused on the autism spectrum disorder (ASD) genetic testing educational needs of Taiwanese parents of children with ASD, our objective was to explore their ASD genetic testing-related educational needs and preferences. Semi-structured interviews were conducted with 39 Taiwanese parents of children with ASD. All interview data were analyzed to identify emergent themes using content analysis. The study included 31 mothers and 8 fathers with a mean age of 42. Most interviewees were married (92.3%) and held a college degree or higher (61.5%). Most interviewees reported positive attitudes toward ASD genetic testing education and identified preferred educational topics that included: (1) ASD genetic testing cost, procedures, accuracy, reliability, benefits, risks, and scientific basis, (2) genetic testing report interpretation, and (3) the experiences of other parents whose children have undergone ASD genetic testing. Parents reported that their most preferred education methods were in-person lectures and seminars, printed health education materials, and web-based education and that they preferred receiving education from reliable sources including healthcare providers, ASD organizations, and schools. Taiwanese parents of children with ASD in this study expressed interest in ASD genetic testing education. They preferred a variety of topics and delivery methods and welcomed education from diverse sources. These findings provide significant implications for the development of evidence-based ASD genetic testing focused health education programs and materials tailored to the needs of parents of children with ASD in Taiwan.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"291-299"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004304","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}
R Brian Woodbury, Julie A Beans, Vanessa Y Hiratsuka
{"title":"Trusted partners, community priorities, and data protections: requirements for precision medicine research with Alaska Native peoples.","authors":"R Brian Woodbury, Julie A Beans, Vanessa Y Hiratsuka","doi":"10.1007/s12687-025-00779-2","DOIUrl":"10.1007/s12687-025-00779-2","url":null,"abstract":"<p><p>Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of the benefits of precision medicine; data management, including the terms of data ownership, sharing, and security; and, the nature and extent of community engagement in and oversight of research. These questions are particularly salient for minoritized communities that have been harmed by unethical research practices and often deprived the full benefit of advances in medical science. Understanding the perspectives of these communities is essential to the design and conduct of ethical and effective precision medicine research. This study explored perspectives on the acceptability, feasibility, value, and benefits and harms of precision medicine research among Alaska Native and American Indian (ANAI) peoples. We conducted four focus groups with ANAI individuals who receive primary care from a Tribal health organization in Anchorage, Alaska. Participants were willing to engage in precision medicine research provided specific requirements were met. Research must be conducted by the Tribal health organization or another trusted partner, community health priorities must drive the research agenda, and researchers must employ robust data protections to guard against loss of data security and maintain control over data use and access. These requirements work collectively to ensure research benefits and respects Tribal sovereignty. These findings could help inform efforts to design and implement precision medicine research programs tailored to concerns of ANAI peoples.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"311-319"},"PeriodicalIF":1.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543956","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":"Albinism research in a Southern African setting: unique findings.","authors":"Jennifer G R Kromberg, Robyn A Kerr","doi":"10.1007/s12687-025-00786-3","DOIUrl":"10.1007/s12687-025-00786-3","url":null,"abstract":"<p><p>Research on oculocutaneous albinism (OCA) in the black African population has been ongoing for 52 years (1971-2023) in the Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. The aim of the present study was to review all the relevant published articles and focus on selected articles with unique findings. The results showed that unique findings were reported in psychosocial, cultural, epidemiological, clinical and molecular fields of study. The local prevalence of albinism was found to be 1 in 3900, higher than that reported in many other countries, although a worldwide review on prevalence showed that only 26/193 (13%) countries had published figures; the commonest types of OCA found were OCA2 and then OCA3; the high rate of skin cancer was documented; and the natural history of OCA described. Molecular studies showed that the 2.7 kb deletion mutation in the OCA2 gene is the common mutation in OCA2 locally, and further identified unique mutations in TYRP1 causing rufous albinism (OCA3) in this population. An early study found that after the birth of a child with OCA maternal-infant bonding was delayed, and only established some months later. Further research revealed that superstitions and myths surrounded the birth and the death of a person with OCA, and the belief that powerful medicines could be made from body parts, was very disturbing. Genetic causes of OCA were poorly understood by affected individuals, their relatives and communities, and genetic counselling is essential. In summary, over 30 studies were undertaken and published over a period of five decades, and many presented unique findings on this under-researched inherited condition.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"107-116"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11979064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732231","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}
Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun
{"title":"Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.","authors":"Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun","doi":"10.1007/s12687-024-00766-z","DOIUrl":"10.1007/s12687-024-00766-z","url":null,"abstract":"<p><p>Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"161-166"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11979027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013834","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}
Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe
{"title":"Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.","authors":"Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe","doi":"10.1007/s12687-024-00750-7","DOIUrl":"10.1007/s12687-024-00750-7","url":null,"abstract":"<p><p>In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients' access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"139-150"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11998275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967207","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":"Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research.","authors":"Apurvakumar Pandya, Kapil Dave, Shrey Desai, Gayatri Desai","doi":"10.1007/s12687-025-00768-5","DOIUrl":"10.1007/s12687-025-00768-5","url":null,"abstract":"<p><p>Prenatal screening (PNS) for Sickle Cell Disease (SCD) offers a potential avenue for informed reproductive choices and the sickle elimination initiative of the Government of India. The objective of the study was to explore perceptions and ethical dilemmas surrounding prenatal screening for sickle cell disease and subsequent termination of pregnancy among pregnant women and key stakeholders from the tribal region of Gujarat. The study employed sequential mixed-methods research, embedding a participatory research approach. Pregnant women and key stakeholders from Jhaghadia, Bharuch District of Gujarat were interviewed. The qualitative data was analyzed using a thematic analytic framework, and the quantitative data was presented with descriptive statistics. Findings revealed key themes such as knowledge about SCD and its management, knowledge about PNS, barriers to PNS, acceptance of PNS and ethical dilemmas related to the termination of pregnancy (TOP). The results show a mixed preference for prenatal screening from both qualitative and quantitative data, primarily due to the complex decision-making process. Couples with SCD reported a high preference for PNS and TOP if the foetus had sickle cell disease whereas couples living with SCD trait were assigned lowest priority and preference to under-go PNS and TOP. Decisions were influenced by limited knowledge, lack of lived experience of SCD, family pressure, cultural and religious beliefs, and social stigma. A comprehensive behaviour change communication strategies that empower couples and key stakeholders through culturally sensitive SCD & PNS literacy, and genetic counselling is essential to promote informed decision-making within the cultural context of tribal communities.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"167-181"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013833","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}
Aileen Kenneson, Yasmin Thornton, Chelsea Cole, Sharanya Iyer, Ami R Rosen, Rani H Singh
{"title":"Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.","authors":"Aileen Kenneson, Yasmin Thornton, Chelsea Cole, Sharanya Iyer, Ami R Rosen, Rani H Singh","doi":"10.1007/s12687-024-00764-1","DOIUrl":"10.1007/s12687-024-00764-1","url":null,"abstract":"<p><p>As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs' attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis. The identified themes fell into the following topics: perceptions of genetics, PCPs' roles in genetics, common reasons for referrals to genetic services, barriers to referrals to genetic services, genetic tests ordered by PCPs, and PCPs' educational needs regarding genetics. The most common perception of genetics was for the indication of personal or family history of cancer. PCPs' self-described role in genetics fell into two categories: recognition for when a referral for genetic services is warranted and education of families. Participants were divided in their opinion as to whether they should order genetic tests. PCP's education needs fell into four main categories: how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions, with a particular emphasis on cancer. While PCPs expressed an interest in further genetics education, they also questioned the applicability of genetics to their practice. The information obtained in this study can help inform the development of successful education activities and programs in genetics for PCPs.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"131-137"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11979005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956656","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}
B Ribeiro, I Homem de Melo, A Sequeira, R Moldovan, M Paneque
{"title":"Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.","authors":"B Ribeiro, I Homem de Melo, A Sequeira, R Moldovan, M Paneque","doi":"10.1007/s12687-025-00774-7","DOIUrl":"10.1007/s12687-025-00774-7","url":null,"abstract":"<p><p>Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties have developed globally, namely and more recently, psychiatric genetic counselling. This study provides a pioneering exploration of family physicians and psychiatrists' perceptions regarding genetic counselling provision and its potentialities in the context of psychiatric illnesses in Portugal. A qualitative methodology with semi-structured interviews was used. Among the participants, five were family physicians, and six were psychiatrists. Thematic analysis revealed three themes: (1) the role of genetics in healthcare, (2) barriers to psychiatric genetic counselling implementation, and (3) perceived benefits associated with its implementation. Results show that while the importance of genetics in psychiatric disorders is acknowledged, there is low literacy about genetic counselling practice from the professional groups interviewed. Also, the availability and mainstreaming of genetic testing seem to influence how genetic counselling is perceived and utilized. There is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare. A holistic and patient-centred approach is considered essential in managing psychiatric disorders and, by extension, in psychiatric genetic counselling, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate psychiatric genetic counselling into their patients' care, it seems that certain fundamental challenges still persist in genetic healthcare provision. Future research should contribute for a more comprehensive evaluation of the readiness for psychiatric genetic counselling implementation in the country.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"195-206"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11979017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450447","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}
Daniele Lima Rocha, Jordânia Dos Santos Pinheiro, Gabriel Vasata Furtado, Thayne Woycinck Kowalski, Karina Carvalho Donis, Marta Chaves, Greice Chini, Thais Lampert Monte, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Laura Bannach Jardim
{"title":"Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.","authors":"Daniele Lima Rocha, Jordânia Dos Santos Pinheiro, Gabriel Vasata Furtado, Thayne Woycinck Kowalski, Karina Carvalho Donis, Marta Chaves, Greice Chini, Thais Lampert Monte, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Laura Bannach Jardim","doi":"10.1007/s12687-025-00777-4","DOIUrl":"10.1007/s12687-025-00777-4","url":null,"abstract":"<p><p>Healthcare delay (HCDe) is an important but not well-known issue in genetic disorders, especially in tandem nucleotide repeat expansion diseases (TNRED). We aimed to investigate it and determine whether predictive genetic testing (PGT) and other factors may impact HCDe. A retrospective review was performed on electronic files of symptomatic and pre-symptomatic consultants (SC and PSC) by the time of their first evaluation, from TNRED families followed from 1998 to 2023. HCDe was the difference between ages at onset of symptoms (AO) and at start of healthcare for these symptoms in SC and PSC. Age, diagnosis, year of diagnosis, sex, AO, residence, schooling, index cases, and previous PGT were analyzed. Of the 1,100 subjects reviewed, 811 and 101 were SC and PSC carriers of Huntington disease, Huntington disease-like 2, spinocerebellar ataxia type 2, 3, 6, 7, or 10, or Friedreich ataxia. Their median (IQR) HCDe was 5 (6) years and did not differ across diseases. Over the years, the number of annual PSC diagnoses became similar to that of SC. Better schooling and recurrent familial cases were associated with shorter HCDe, but the strongest effect on HCDe was related to PGT: in 33 PSC who converted and came to healthcare, HCDe was of 1 year (p < 0.0001, MW). HCDe was large in all TNRED studied. Parameters related to better access to information, especially PGT, improved HCDe. As molecular diagnoses become more frequent in PSC, we expect that HCDe will be reduced in the future.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"207-215"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450454","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}