European Journal of Human Genetics最新文献

{"title":"Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.","authors":"Ciara S McNevin, Kate Murphy, Pierre Murchan, Andrea Hennessy, Orla Fitzpatrick, Sharon O'Toole, Paul Smyth, Emer Atkinson, Georgia Thodi, Anne-Marie Baird, Steven G Gray, Cathal O'Brien, Trudi McDevitt, Roshni Deepa Kalachand, Brendan Doyle, Niamh Coleman, Stephen P Finn, Karen A Cadoo","doi":"10.1038/s41431-026-02161-3","DOIUrl":"https://doi.org/10.1038/s41431-026-02161-3","url":null,"abstract":"<p><p>Poly(ADP-ribose) polymerase inhibitors (PARPi) have revolutionized the management of BRCA1- and BRCA2-associated ovarian cancer (OC). In 2020, Ireland implemented a nationwide, oncology-led pathway for mainstreamed BRCA1/2 testing in patients with OC. This study evaluated the pathway and characterised the BRCA1/2 landscape in an Irish cohort of patients with OC. Samples collected between January 2020 and December 2023 were tested in two national molecular diagnostic laboratories. Single-molecule molecular inversion probe sequencing was used to detect single nucleotide variants, while multiplex ligation-dependent probe amplification assessed large genomic rearrangements. Variants were classified according to the American College of Medical Genetics and Genomics and Association for Clinical Genomic Science 2020 guidelines and CanVIG-UK specifications. In total, 535 patients were included, with a median age of 65.5 years (range, 27-89 years). Of these, 455/535 (85.0%) underwent germline BRCA1/2 (gBRCA) testing using peripheral blood, and 360/535 (67.2%) underwent tumour BRCA1/2 (tBRCA) testing, resulting in 292/535 (54.6%) patients having paired testing. Among gBRCA-tested patients, 10.3% (47/455) had a clinically actionable variant (CAV), while 2.1% (10/455) had a variant of uncertain significance. Of the 262 patients who underwent paired testing and had negative gBRCA results, 9.5% (25/262) had a somatic BRCA CAV. Recurrent germline BRCA CAVs were identified in regional clusters, including BRCA1 c.5266dup, BRCA1 c.1175_1214del, and BRCA2 c.4398_4402del. This nationwide real-world study demonstrates that mainstreamed germline and somatic BRCA1/2 testing is feasible in Ireland and reports the prevalence of BRCA CAVs in a cohort of patients with OC. Although the observed prevalence of germline BRCA CAVs was lower than anticipated, it is consistent with UK real-world data. The identification of recurrent, regionally clustered germline variants further enhances the characterisation of the Irish genomic landscape.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148886627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.","authors":"Zandrè Bruwer, Hendrike Mc Donald, Michal R Zieff, Emma Eastman, Brigitte Melly, Rizqa Sulaiman-Bardien, Karen Fieggen, Shahida Moosa, Emily O'Heir, Christina Austin Tse, Ikeoluwa Osei-Owusu, Alice Galvin, Celia van der Merwe, Anne O'Donnell-Luria, Charles R Newton, Amina Abubakar, Elise B Robinson, Kirsten A Donald","doi":"10.1038/s41431-026-02216-5","DOIUrl":"https://doi.org/10.1038/s41431-026-02216-5","url":null,"abstract":"<p><p>Face2Gene is a clinical tool that leverages facial features to aid genetic diagnosis. The DeepGestalt application suggests potential diagnoses based on facial similarity, while the D-Score evaluates likelihood of an individual having dysmorphic features suggestive of a possible genetic diagnosis. Given performance variability across populations and limited data from South Africa, this study assessed clinical utility in South African children with neurodevelopmental disorders (NDDs). Facial photographs from 301 children were analysed. The cohort comprised three groups: 36 children with NDDs with confirmed molecular diagnoses, 176 with NDDs without molecular diagnoses and 89 unaffected children. Diagnostic (recognition) accuracy was measured by whether the confirmed diagnosis appeared in the top-1 or top-10 ranked algorithm-generated suggestions (DeepGestalt). D-Scores were extracted to calculate group differences. Among children with confirmed molecular diagnoses, accuracy was 19% (95% CI: 9-35%) (top-1) and 34% (95% CI: 20-52%) (top-10), improving to 33% (95% CI: 16-56%) and 61% (95% CI: 39-80%) when limited to conditions included in the DeepGestalt training set. One-way ANOVA revealed differences between participants with and without significant dysmorphic features, as assessed by clinicians. The D-Score demonstrated moderate sensitivity (78%, [95% CI: 0.64, 0.88]) and low specificity (42%, [95% CI: 0.38, 0.50]), but high negative predictive value (91%, [95% CI: 0.84, 0.95]), suggesting it may be more useful for ruling out dysmorphism; however, the low specificity indicates a high rate of false positives, even among clinically non-dysmorphic children. These findings suggest that under-representation of African populations may limit clinical performance and equity of AI-based facial phenotyping tools.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148839816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.","authors":"Marion Mathieu, Bérengère Saliba-Serre, Sandrine de Montgolfier, Martine Libany, Annagrazia Altavilla, François Faurisson, Perrine Malzac","doi":"10.1038/s41431-026-02205-8","DOIUrl":"https://doi.org/10.1038/s41431-026-02205-8","url":null,"abstract":"<p><p>Difficulties of sharing information about genetic risks, for medical purposes, with family members are well known to patients with rare genetic diseases and healthcare professionals. To understand the mechanisms underlying the difficulties associated with the family disclosure of genetic risk (FDGR) process, an online questionnaire survey was designed in collaboration with French patient associations, healthcare professionals and academics. 595 patients with various rare diseases, or their relatives, who had an experience of FDGR, reported 685 FDGR events. Using hierarchical clustering on the principal components (HCPC) of a multiple correspondence analysis (MCA), these 685 experiences were divided into three clusters, representing 347 (Cluster 1 50.7%), 175 (Cluster 2 25.5%) and 163 (Cluster 3 23.8%) FDGR events, respectively. In cluster 1, the FDGR events described were considered generally satisfactory. In cluster 2 and cluster 3 (approximately 50% of FDGR), the FDGR events described were considered unsatisfactory, both in terms of information transmission and psychosocial damage, mainly due to a poor understanding of the information to be conveyed and/or low motivation, particularly in families experiencing relationship difficulties. However, other factors, such as certain characteristics of the disease or the type of healthcare professional involved in the process, do not appear to differ significantly between the three clusters. Our results, obtained through a collaborative approach, provide a basis for the collective development of tools (i) aimed at improving patients' understanding of genetic information and their motivation to disclose it to family members, but if this proves impossible or too difficult, (ii) to delegate disclosure to healthcare professionals.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148790009","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.","authors":"Milou G P Kennis, Leenke van Haaften, Karen van Hulst, Rolph Pfundt, Nicole de Leeuw, Jeroen van Reeuwijk, Robin Wijngaard, Lisenka E L M Vissers, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Lot Snijders Blok","doi":"10.1038/s41431-026-02214-7","DOIUrl":"https://doi.org/10.1038/s41431-026-02214-7","url":null,"abstract":"<p><p>A developmental language disorder (DLD) is a neurobiological condition characterized by impaired language development despite adequate linguistic input and normal intelligence. The role of monogenic causes in the pathogenesis of DLD is largely unknown and diagnostic genetic testing is rarely offered. This study assessed the diagnostic yield of genome sequencing in severe DLD and investigated the underlying genetic foundations. We designed a prospective cohort study involving trio-based genome sequencing in 25 individuals (aged 3-25 years) with severe DLD, no intellectual disability (non-verbal IQ ≥ 70), no autism spectrum disorder diagnosis and no first-degree family history of DLD or neurodevelopmental disorders. (Likely) pathogenic variants were found in nine of 25 individuals, reflecting a molecular diagnostic yield of 36%. The genetic causes were diverse and involved seven autosomal dominant disorders, one autosomal recessive disorder, and one sex chromosome aneuploidy. In seven individuals, the disease-causing variant occurred de novo. All identified (likely) pathogenic variants were located in genes or loci that have been previously implicated in neurodevelopmental disorders with variable clinical presentations. Importantly, the genetic diagnosis provided actionable insights for counselling and clinical follow-up for all nine individuals. This study reveals a high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD, and demonstrates extensive molecular overlap with other neurodevelopmental disorders. Our results support the implementation of routine trio-based genetic testing in individuals with severe and sporadic DLD.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148790022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Missed cases or unreported signals? Genomic newborn screening and the architecture of what counts.","authors":"Helena M Carley, Anneke M Lucassen","doi":"10.1038/s41431-026-02218-3","DOIUrl":"https://doi.org/10.1038/s41431-026-02218-3","url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Holding the story, holding the professional: a pilot study of genetic counselling supervision in Portugal.","authors":"Lídia Guimarães, Mariangels Ferrer-Duch, Inês Costa, Ane Sagardia, Maria Ramos-Arroyo, Fernando Alvira-Iraizoz, María Tubío-Fungueiriño, Montse Fernández-Prieto, Nelly Pasz, Pauline Villa, Margarida Rangel Henriques, Milena Paneque","doi":"10.1038/s41431-026-02215-6","DOIUrl":"https://doi.org/10.1038/s41431-026-02215-6","url":null,"abstract":"<p><p>The increasing complexity of genomic medicine has intensified the emotional, ethical, and relational demands placed on genetic counselling professionals. In response to these demands, genetic counselling supervision has been increasingly recognised as a core component of safe and sustainable practice. However, its implementation across Europe remains uneven, and empirical evidence on feasible and acceptable supervision models in clinical settings is limited. This study reports a mixed-methods pilot evaluation of a narrative-informed, group-based genetic counselling supervision programme implemented within Portuguese public genetic services. This is a foundational component of the first phase of the MAG-SUDOE project, a transnational initiative supported by the Interreg SUDOE programme aimed at developing a joint supervision solution for genetic counselling professionals in Portugal, Spain, and France. Eight genetic healthcare professionals were recruited, and seven completed the intervention. Feasibility and acceptability were examined through participation and attendance rates, session evaluations, and assessment of the supervisory working alliance. Preliminary impact was explored using self-report measures of psychological well-being and perceived counselling quality, complemented by qualitative data from written narratives, semi-structured interviews, and a final focus group. The programme demonstrated high feasibility, with strong engagement and completion despite clinical workload constraints, and high acceptability, reflected in positive session evaluations and strong supervisory working alliance. Qualitative findings indicated that participants experienced supervision as a safe and reflective space that reduced isolation, supported emotional regulation, and enhanced reflective awareness. Overall, this pilot study provides promising indications of benefit for reflective practice and professional well-being, supporting its further adaptation and implementation within a transnational European framework.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.","authors":"Molly Godfrey, Michael A Levy, Christopher Campbell, Leigh Demain, Sarah Jenkinson, Sarah Hilton, Berta Almoguera, Meena Balasubramanian, Emilia K Bijlsma, Fiona Blanco-Kelly, Emma M M Burkitt Wright, Gerarda Cappuccio, Kate E Chandler, Koen Devriendt, Aranzazu Diaz de Bustamante, Maria K Haanpää, Carolin Hörnig, Elizabeth A Jones, Sinem Kocagil, Hannele Koillinen, Dhanya Lakshmi Narayanan, Emanuela Leonardi, Rajesh Madhu, Purvi Majethia, Alessandra Murgia, Elisabeth Rosser, Markus Schuelke, Anju Shukla, Emma Soengas-Gonda, Sarah Stewart, Yves Sznajer, Saoud Tahsin Swafiri, Maria Margarida Venancio, Renzo Guerrini, Martino Montomoli, Annalisa Vetro, Thomas Wright, David Gokhale, Bekim Sadikovic, Sofia Douzgou Houge, Siddharth Banka","doi":"10.1038/s41431-026-02209-4","DOIUrl":"https://doi.org/10.1038/s41431-026-02209-4","url":null,"abstract":"<p><p>Pathogenic CHD8 variants cause autosomal dominant 'Intellectual developmental disorder with autism and macrocephaly' (IDDAM) and are amongst the most common monogenic causes of autism. The clinical significance of CHD8 missense variants (MVs) frequently remains uncertain. Systematically applying ACGS/ACMG guidelines to 36 CHD8 MVs in 39 affected patients, only two variants were classified likely pathogenic (LP), with the remaining 34 classified variants of uncertain significance (VUS). We subclassified the variants according to posterior probability of pathogenicity (PPP), with 14 being at least tepid VUS (PPP ≥ 50%). Comprehensive phenotypic analysis revealed no discernible clinical differences between individuals carrying at least tepid VUS and others, offering no additional insight for variant classification. EpiSign™ testing revealed a CHD8-IDDAM episignature, as previously detected in patients with truncating/null variants, in 11 cases, allowing reclassification of 8 VUS (all previously classified at least tepid) as LP. Molecular modelling indicated that disease-causing (LP/P) CHD8 MVs are concentrated in structured and/or functional protein domains. Compared to truncating/null variants, disease-causing MVs were less often associated with attention issues and macrocephaly, but clinical features were otherwise similar. Additionally, three disease-causing MVs were inherited from unaffected/mildly affected parents. Overall, we show that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield. Further, our results indicate that CHD8 MVs are likely to act via a loss-of-or reduced function mechanism. These findings reveal the importance and complexity of interpreting CHD8 MVs and will improve the diagnosis and understanding of CHD8-related disorders.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rapid genomic sequencing in the NICU: Who to test and why.","authors":"Sara S Ali, Marione Tamase Newsam, Pankaj B Agrawal","doi":"10.1038/s41431-026-02207-6","DOIUrl":"https://doi.org/10.1038/s41431-026-02207-6","url":null,"abstract":"<p><p>Accessibility of rapid genomic sequencing (rGS), including rapid whole-exome sequencing (rWES) and rapid whole-genome sequencing (rWGS), is transforming care in neonatal intensive care units (NICUs) by enabling timely and precise diagnoses of genetic disorders with high diagnostic yield and significant impact on clinical management. However, determining which infants should undergo sequencing remains a major challenge, particularly in settings with limited genetic expertise and poor access to genomic resources. Currently, no single strategy optimizes diagnostic yield, equity, feasibility, and cost across all settings. We conducted a structured literature review to evaluate patient selection approaches for genomic sequencing in the NICU and synthesized findings from major studies comparing various inclusion-based and exclusion-based approaches. Across 39 included studies, all except one utilized phenotype-driven inclusion criteria based on, for example, congenital anomalies, neurological manifestations, multisystem disease, or unexplained critical illness, while only one study employed a predominantly exclusion-based, genotype first strategy. Studies were conducted primarily in tertiary or high-resource NICUs, highlighting ongoing disparities in access to genomic testing and specialist expertise. Future research should focus on prospective comparisons of selection frameworks and the development of scalable implementation models that support equitable genomic care in NICU populations.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148683877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project","authors":"Prasun Dutta,&nbsp;Alistair T. Pagnamenta,&nbsp;Christelle Robert,&nbsp;Anthony E. F. McGuigan,&nbsp;Alison Ross,&nbsp;Edward S. Tobias,&nbsp;Ruth McGowan,&nbsp;Morad Ansari,&nbsp;David Baty,&nbsp;Jonathan Berg,&nbsp;Therese Bradley,&nbsp;Vera Cerqueira,&nbsp;Austin Diamond,&nbsp;Mihail Halachev,&nbsp;Anne Lampe,&nbsp;Alison Meynert,&nbsp;Caitlin Newman,&nbsp;Marian Thomson,&nbsp;Urmi Trivedi,&nbsp;Nicola Williams,&nbsp;Jing Yu,&nbsp;Javier Santoyo-Lopez,&nbsp;Zosia Miedzybrodzka,&nbsp;Jenny C. Taylor,&nbsp;Timothy J. Aitman","doi":"10.1038/s41431-026-02210-x","DOIUrl":"10.1038/s41431-026-02210-x","url":null,"abstract":"Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of 25–41%, depending on the methods for patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative programme using genome sequencing to diagnose rare disease patients with presumed monogenic aetiology in the Scottish NHS. Within SGP, short-read sequencing (SRS) had previously achieved a diagnostic rate of 23% in affected families. To increase diagnostic yield, we applied Oxford Nanopore Technologies (ONT) long-read sequencing (LRS) to a cohort of 24 SGP families (74 individuals) that remained undiagnosed after SRS-based SNV/indel analysis. We also retrospectively reviewed SRS-derived structural variant (SV) calls to assess whether LRS results could have been detected in SRS data. After quality, rarity, panel-based and inheritance-based filtering, 392 candidate SVs were retained across de novo, homozygous recessive, compound heterozygous and X-linked inheritance models, of which 8 overlapped PanelApp diagnostic-grade “green” genes. Pathogenic or likely pathogenic de novo SVs were identified in 3 of 24 families: an AUTS2 inversion, a DLX5/6 locus inversion, and an FN1 deletion. All three SVs were independently confirmed by retrospective SRS re-analysis using SVRare. These findings demonstrate that LRS-based SV analysis, supported by orthogonal SRS re-analysis, can resolve clinically significant SVs in families who remain unsolved after standard rare disease testing.","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"34 10","pages":"1513-1523"},"PeriodicalIF":4.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.comhttps://www.nature.com/articles/s41431-026-02210-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148677677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patients' and parents' views on how digital tools enable personalized and partnered care in genetics: a qualitative study.","authors":"Daniel Assamad, Saumeh Saeedi, Sonya Grewal, Vedika Jha, Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Yvonne Bombard, Robin Z Hayeems","doi":"10.1038/s41431-026-02200-z","DOIUrl":"https://doi.org/10.1038/s41431-026-02200-z","url":null,"abstract":"<p><p>Patient-facing digital tools in genetics can increase efficiency and personalize care, but may threaten patient-provider relationships due to a diminished sense of connection associated with traditional face-to-face encounters. To learn about experiences with and preferences for using digital tools in the delivery of genetic services, semi-structured interviews were conducted with patients or parents of children who had clinical or research genetic testing. Direct experience with a digital healthcare tool was not required for inclusion. Data were analyzed thematically. A total of thirty participants from across Canada were interviewed. Of these, 17 (57%) received genetic testing for themselves and 20 (67%) identified as female. Participants described previous positive experiences with digital tools in medical settings and welcomed the shift towards their increased use in genetics. Participants desired increased agency, access, and control while maintaining the human touch with their healthcare providers. They anticipated that supplementing care with a digital tool could provide the balance and personalization desired for digitally-enabled agency and better access to health information, including genetic test results. Digital tools can facilitate innovation in patient-centered care, enabling a personalized model of care that retains a sense of connection with healthcare providers.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148677689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}