Journal of Community Genetics最新文献

{"title":"Impact of revised severity criteria on the acceptability of PGT-M for childhood-onset cancer predisposition syndromes: a survey of genetic professionals in Japan.","authors":"Hiroko Terui-Kohbata, Yuri Murai, Yusuke Ebana, Masayuki Yoshida","doi":"10.1007/s12687-026-00915-6","DOIUrl":"10.1007/s12687-026-00915-6","url":null,"abstract":"<p><p>The scope of preimplantation genetic testing for monogenic disorders (PGT-M) in Japan, initially limited to severe childhood-onset diseases, appears to be expanding following the 2022 revision of the Japan Society of Obstetrics and Gynecology's definition of \"severity.\" This study examines the impact of this definitional change on the acceptability of PGT-M by comparing attitudes of Japanese genetic professionals before and after the revision, focusing on three childhood-onset cancer predisposition syndromes: Li-Fraumeni syndrome (LFS), familial adenomatous polyposis (FAP), and neurofibromatosis type 1 (NF1). A two-phase survey was conducted in 2019-2020 and 2024 among clinical genetic specialists supervisors and certified genetic counselors. The survey explored views on PGT-M acceptability, the concept of \"selection of life,\" awareness of the revised severity definition, and background factors influencing opinions. Among 382 respondents, LFS was most frequently judged acceptable for PGT-M, followed by FAP and NF1. Between the two phases, \"unacceptable\" responses declined, while \"neither\" increased. Those viewing PGT-M as \"selection of life\" were more likely to oppose it (r=-.293, p<.01). Genetic professionals in the pediatric field were more likely to consider PGT-M unacceptable (r=-.22, p<.01). These findings suggest that clinical experience, ethical perceptions, and institutional guidelines shape professional attitudes toward PGT-M. These findings have implications for genetic counseling practice and policy discussions surrounding the evolving scope of PGT-M. Ongoing dialogue and education are essential as eligibility criteria and societal values continue to evolve.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13315043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148346789","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":"Oncogenetics training in Brazilian medical genetics residency programs: current landscape and challenges.","authors":"Amaro Freire de Queiroz Júnior, Angelina Xavier Acosta, Carlos Eduardo Steiner, Cezar Antônio Abreu de Souza, Chong Ae Kim, Fernando Regla Vargas, Maria Denise Fernandes Carvalho de Andrade, Patrícia Santana Correia, Paulo Ricardo Gazzola Zen, Romina Soledad Heredia, Victor Evangelista de Faria Ferraz, Débora Gusmão Melo, Patrícia Ashton-Prolla","doi":"10.1007/s12687-026-00916-5","DOIUrl":"10.1007/s12687-026-00916-5","url":null,"abstract":"<p><p>Oncogenetics focuses on identifying and managing hereditary cancer predisposition, enabling risk-reducing interventions and targeted therapies. This descriptive study evaluated the landscape of oncogenetics training within Medical Genetics Residency Programs in Brazil. Data were collected through online questionnaires and interviews with program supervisors. We assessed rotation availability, timing and duration, clinical and theoretical workload, multidisciplinary care, and competency assessment. Data were analyzed using descriptive statistics. All twelve accredited programs participated. Eleven (92%) offered oncogenetics training, primarily in the third year of residency. While half of the programs provided internal rotations, all allowed external rotations to compensate for local infrastructure limitations. Residents completed a mean of 250.1 practical hours (SD 126.5; range 40-400) over approximately 6.5 months, seeing about 13 patients per week (SD 9.2; range 5-30). Theoretical training averaged 31.3 h (SD 26.8; range 4-70), resulting in a mean total training workload of 258.7 h (SD 159.1; range 4-470). Multidisciplinary care and research opportunities were common; however, formal competency assessments specific to oncogenetics were infrequent. Considerable variability in workload and clinical settings was observed across programs. The findings indicate that oncogenetics is well integrated into Brazilian medical genetics training, aligning with the growing importance of genomic medicine in oncology. Nevertheless, the marked heterogeneity underscores the need for standardized training approaches. The study suggests that establishing inter-institutional networks and formalizing external rotations may help reduce geographic and technological disparities and support more consistent oncogenetics training in medical genetics residency programs across Brazil.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13315024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148346742","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":"A primary care pharmacogenetic precision medicine pilot based on specific Māori tribal ethical frameworks and principles.","authors":"Stephen P Robertson, Benjamin J Halliday, Rhonda Tibble, Caroline Koia, Tuta Haereroa, Elizabeth Goodin, Ben Curran, Claire E Rye, Helen Wihongi, Ben Te Aika, Joep de Ligt, Donia Macartney-Coxson, Nick Jones, Jun Huh, E Owen Perkins, Matt Pestle, Kenny Zhao, Martin A Kennedy, Patrick A Gladding, David M Markie, Cristin G Print, Phillip L Wilcox, Huti Puketapu-Watson","doi":"10.1007/s12687-026-00914-7","DOIUrl":"10.1007/s12687-026-00914-7","url":null,"abstract":"<p><p>Indigenous tribal communities are frequently underserved by genomic medicine because they are under-represented in research, often live in remote locations and have ethical and cultural perspectives that vary from westernised standpoints. The Rakeiora platform, a permissioning and analytical environment that incorporates Māori perspectives and ethical frameworks on how precision medicine research is best conducted was used to host a pharmacogenetic exemplar project to demonstrate proof of principle in a tribal community. The project was prospectively co-designed alongside community representatives through an extensive series of kanohi ki te kanohi (face-to-face) consultation hui, drawing on the strengths, insights, and aspirations of the community. Narratives socialising the study were metaphorically located in tribal-specific histories to improve participation. The cohort of 148 Māori individuals consented to have variants in CYP2C19 extracted from whole genome sequence datasets and correlated to the medicines they were prescribed and had dispensed over a 12-month period. Genotyping indicated that 7% of the cohort were genotypically predicted to be \"poor metabolisers\" and 11% \"rapid metabolisers\" of at least one drug known to be processed by CYP2C19. Based on international guidelines, 40% of prescriptions could have benefited from knowledge of the participant's CYP2C19 genotype through either dose adjustment or prescription of an alternative drug. The study population was broadly supportive of research into precision medicine, but the majority wished to retain ongoing dynamic consent practices mediated by trusted local figures.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13310208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340591","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":"Underutilisation of hydroxyurea in sickle cell disease: a global scoping review of multilevel barriers and facilitators.","authors":"Ravi Gajbhiye, Prabhakar S Kedar, Priya Rani, Swapnil Chandekar, Nagaraj J, Manisha Madkaikar","doi":"10.1007/s12687-026-00912-9","DOIUrl":"10.1007/s12687-026-00912-9","url":null,"abstract":"<p><p>Hydroxyurea (HU) is an effective therapy for sickle cell disease (SCD) but remains underused worldwide. This scoping review aimed to identify geographical and multilevel barriers and facilitators influencing hydroxyurea initiation, uptake, and sustained use, using the Socio-Ecological Model (SEM) as a framework to guide the analysis and interpretation of findings. This scoping review followed the PRISMA-ScR guidelines. The Socio-Ecological Model (SEM) was used as an analytical framework to categorise and synthesise barriers and facilitators identified in the literature. PubMed, Scopus, Web of Science, and Google Scholar were searched for peer-reviewed studies. Eligible studies included quantitative, qualitative, and mixed-methods designs reporting barriers and/or facilitators to hydroxyurea use among individuals with SCD. We identified 30 studies across Africa, Asia, Europe, North America, and South America. Barriers to hydroxyurea use were reported across individual, caregiver, provider, health-system, and policy levels. Common barriers included negative beliefs, fear of adverse effects, limited knowledge, financial constraints, and gaps in access and monitoring. Facilitators included education, shared decision-making, peer support, provider training, guideline availability, insurance coverage, and improved drug access. Across settings, structural and health-system barriers were more consistently reported than individual-level factors, suggesting that hydroxyurea underutilisation is driven largely by system-level constraints rather than patient behaviour alone. Underutilisation of hydroxyurea in SCD reflects interacting socio-ecological barriers rather than patient non-adherence alone. Addressing these challenges will require coordinated, multilevel strategies that prioritise health-system strengthening alongside patient support to ensure sustained and equitable access to hydroxyurea.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13291304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148303416","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":"Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancer.","authors":"Samuel Tundealao, Emily Heidt, Sherry Grumet, Marc D Schwartz, Beth N Peshkin, Jinghua An, Scott T Walters, Lindsay O'Boyle, Deborah Toppmeyer, Anita Y Kinney","doi":"10.1007/s12687-026-00873-z","DOIUrl":"10.1007/s12687-026-00873-z","url":null,"abstract":"<p><p>This study describes the development and feasibility testing of a digital health guide (DHG) to streamline genetic education, reduce barriers, and promote informed genetic testing (GT) decisions among cancer survivors. This study reports on the DHG's development, usability testing, acceptability, feasibility, and preliminary efficacy in improving genetic counseling (GC) and GT access for cancer survivors. Guided by the Ottawa Decision Support Framework, the DHG prototype was developed following community engagement with cancer patients and at-risk relatives from diverse sociodemographically backgrounds. It was refined through user (content-focused) and usability (functionality-focused) testing. Pilot trial participants provided data through semi-structured interviews and usability assessments. Qualitative data were analyzed using the Framework Method. The preliminary impact of the DHG on GC and GT uptake, and informed decision-making, was assessed in a feasibility and accessibility trial. The Chatbot Usability Questionnaire score for the DHG was 70.3 (IQR = 12.5), indicating good acceptability. The DHG also facilitated GT uptake (73.3%) compared to enhanced usual care (EUC; 7.7%). Pretest GC was requested by 1 of 13 patients in the EUC arm, while no request (0 of 15 patients) was made in the DHG arm. Users' feedback led to clearer language, improved navigation, and stronger messaging regarding data security. DHG participants had lower decisional conflict (33.37 ± 21.09) and decision regret (17.5 ± 16.50) than those in the EUC arm (53.25 ± 22.66 and 37.08 ± 17.38, respectively). The digital intervention is feasible, acceptable, and a promising strategy for expanding GT access and promoting informed decision-making. Further testing in a definitive randomized controlled trial is warranted. Clinical trial registration. This study was preregistered at the NIH clinical trial registry ( https://clinicaltrials.gov/study/NCT06184867 ).</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13287281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148303513","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 contributing to the underdiagnosis of hereditary transthyretin amyloidosis (hATTR) in Black patients.","authors":"Hagerty Kj, Rosen Ar, Heyward A, Ali N, Jeffreys B, Brown Ee, Demo Em, Guan Y, Ogunniyi Mo, Morris Aa, Bhatt Kn","doi":"10.1007/s12687-026-00910-x","DOIUrl":"10.1007/s12687-026-00910-x","url":null,"abstract":"<p><p>Hereditary transthyretin amyloidosis (hATTR) is a progressive, multisystemic, and life-threatening disease that disproportionately affects individuals of African descent, with an estimated prevalence of 3.4% of Black Americans. hATTR is often mis- or underdiagnosed, partially because many of its symptoms overlap with other cardiac conditions. This study highlights additional factors that may be contributing to the underdiagnosis of hATTR in Black patients. Participants were ascertained from the Emory University Amyloidosis Clinic with purposive sampling. A total of 11 interviews were conducted via telephone, transcribed, and coded by two coders for thematic analysis. A Cohen's kappa of 0.74 was reached. The overwhelming majority of participants cited misdiagnosis, mistrust of healthcare providers, denial or misunderstanding of one's own health risks, and poor family communication as prevalent contributing factors to the underdiagnosis of hATTR. Participants cited appropriate referrals to heart failure providers and family letters as contributing factors to proper diagnosis of hATTR. Importantly, participants emphasized the need for more personal and intimate relationships with providers in order to improve uptake of genetic testing in this population. Participants suggested engaging directly with the Black community to improve trust. This study highlights the need for improvements to be made regarding the diagnosis of hATTR in the Black population. Participants suspected of having hATTR should be referred to a heart failure cardiologist for appropriate diagnosis. Genetic testing and follow-up genetic counseling is recommended to appropriately inform the patient of health risks for themselves and their family members.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13275941/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148266274","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":"Integrating genomic medicine into primary care -examining perceptions of community advisory board members.","authors":"Paramita Das, Whitley V Kelley, Catanya G Stager, Tiffany Osborne, Irene Moss, Kelly East, Samantha Whitfield, Bruce Korf, Nita Limdi, Lori Brand Bateman","doi":"10.1007/s12687-026-00885-9","DOIUrl":"10.1007/s12687-026-00885-9","url":null,"abstract":"<p><p>The Alabama Genomic Health Initiative (AGHI), funded by the state of Alabama, aims to provide genomic testing, interpretation, and counseling free of charge to Alabama residents. A 14-member Community Advisory Board (CAB) was convened in 2021 to provide community insight on integrating genomic medicine into clinical care and assessing future perspectives. The CAB was comprised of members from diverse ethnic backgrounds and represented a wide range of age groups, with balanced gender representation from two Alabama counties. The CAB met quarterly, and the team explored the perceptions of members related to genomic medicine through qualitative inquiry with exploratory quantitative findings. Self-administered pre- and post-surveys, completed prior to the first CAB meeting (pre) and after meeting five (post), were utilized to evaluate positive and negative views towards the future of genomic medicine. Five meetings were conducted in a focus group format, and transcripts were coded and analyzed to identify emerging themes. Ten of fourteen (71%) CAB members completed both surveys. Results indicate there was a slight shift in responses related to the future of genomic medicine from pre to post-test, but no significant changes were noted. Eleven of fourteen (80%) CAB members attended four out of five meetings. The prominent themes included barriers to genomic testing, strategies for recruitment, and recommendations for sharing test results. Members believed that participation in the CAB facilitated acquiring new knowledge and insight on genomic medicine.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13272711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148266512","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":"Personal values, professional responsibilities and non-invasive prenatal testing: reflections of genetic counsellors in Australia.","authors":"Chanelle Warton, Danya F Vears","doi":"10.1007/s12687-026-00913-8","DOIUrl":"10.1007/s12687-026-00913-8","url":null,"abstract":"<p><p>The reproductive autonomy rationale endorses the provision of non-invasive prenatal testing (NIPT) to enable individuals to make decisions about their pregnancy in accordance with their personal values. While the personal values of healthcare professionals may promote autonomous reproductive decision-making in light of increasingly complex genetic information, they may also impinge upon reproductive autonomy through limiting patient access to care. This paper provides timely insight into genetic counsellors' perceptions and implementation of professional responsibilities as well as their views on potential conflicts between healthcare professionals' personal moral values and the provision of NIPT. Semi-structured interviews were conducted with 23 genetic counsellors involved in the provision of NIPT in Australia. Data was analysed using inductive content analysis. Participants expressed a shared understanding of their primary professional responsibilities, however varied in their views around operationalising this responsibility in the context of personal value conflicts. Participants reported emerging conflicts in personal values where NIPT was used to detect conditions perceived to have mild phenotypes. Instances of NIPT provision being impacted by conscientious objections to abortion among colleagues were also reported. Participants empathised with concerns of disability discrimination arising from the provision of NIPT but suggested that this could be addressed through nuances in counselling practice. Participants viewed personal values that impeded patient access to care as incompatible with reproductive autonomy. This has important implications for how reproductive autonomy is operationalised in prenatal genetic counselling practice, particularly as the complexity and quantity of genetic information returned via NIPT continues to increase.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13269573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148253727","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":"Proxy patients' perceptions of genetic counselor empathy responses.","authors":"Jennine Bouchard, Ian MacFarlane, Patricia McCarthy Veach, Janice A Baker, Krista Redlinger-Grosse","doi":"10.1007/s12687-026-00909-4","DOIUrl":"10.1007/s12687-026-00909-4","url":null,"abstract":"<p><p>Empathy, the ability to understand and communicate another's experience to them, positively affects genetic counseling processes and outcomes. Genetic counseling, a specialty healthcare profession, provides education and support for those impacted by genetic disease; thus, empathy is critical. Limited studies have explored patients' perceptions of genetic counselor (GC) empathy responses. This study investigated the types of GC responses proxy patients perceived as most empathic and why. Female MTurk workers (n = 198) completed a survey containing two hypothetical genetic counseling scenarios (Fabry disease; postnatal diagnosis of cleft lip and palate) that ended with a patient statement followed by five different GC responses. Participants were asked to identify the GC response that best conveyed empathy and explain their choice. Every GC response was selected by at least one participant. Inductive content analysis of participants' rationales yielded six categories: Understanding, Problem Solving, Sympathizing, Focusing on the Patient, Validating, and Miscellaneous. Understanding was the most prevalent rationale for both scenarios (~ 50% each). While GC responses containing the words \"I'm sorry…\" were chosen most often for both scenarios (~ 45% each), Sympathizing was the rationale for only ~ 20% of these GC responses. Logistic regression analyses showed significant predictors varied across scenarios and between rationales, with few significant demographic predictors. Participants differed in preferences for empathy statements and rationales, signaling context and tailoring are important when considering empathy. Patient demographics are not recommended in predicting the type of GC patients may find empathic. Ongoing assessment of patients' feelings and needs (empathic resonance) will allow genetic counselors to tailor their empathy communication (expressed empathy) accordingly.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13263356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148228625","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":"\"I felt like a lone ranger\": experiences of Australian families living with KIF1A-Associated Neurological Disorder.","authors":"Kara Miwa-Dale, Kimberley Norman, Belinda Dawson-McClaren, Jeanette Harris, Wendy A Gold, Trang T Do, Simranpreet Kaur","doi":"10.1007/s12687-026-00908-5","DOIUrl":"10.1007/s12687-026-00908-5","url":null,"abstract":"<p><p>KIF1A-Associated Neurological Disorder (KAND) is a heterogeneous group of ultra-rare neurodegenerative conditions. Severe forms of KAND, classified within the broader category of childhood dementia, lead to progressive loss of motor, communication and cognitive skills with markedly reduced life expectancy. Although the disorder is genetically and clinically defined, little is known about how families experience diagnosis and ongoing care. To address this gap, we conducted the first empirical investigation into the lived experiences of families living with KAND. Fifteen semi-structured interviews were conducted with 16 parents of individuals with KAND; one interview also included an individual living with KAND. Data were analysed using inductive content analysis. Families described healthcare journeys shaped by frustration and uncertainty, with early concerns frequently dismissed, diagnoses delayed, and access to clinicians with relevant expertise limited. These challenges were compounded by the financial, administrative, psychological and relational strain associated with the complex care needs of KAND. Families reported unmet support needs, including limited access to condition-specific information, difficulties navigating formal support systems, and uncertainty surrounding long-term care planning. In response to these gaps, parents emphasised the need for clearer diagnostic pathways, coordinated multidisciplinary care, and a centralised network of informed healthcare professionals. In the absence of formal support, families relied heavily on peer support networks for information and psychosocial connection. By identifying previously undocumented gaps in rare disease service delivery and support, these findings highlight opportunities to improve clinical genetics practice, strengthen support pathways, and guide future research aimed at enhancing quality of life for individuals with KAND and their families.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13243148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148200582","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}