The first issue of autumn presents a holistic overview of genomic medicine, including clinical diagnostics, the mechanisms underlying genetic conditions, healthcare system-related challenges, and innovative digital solutions, alongside training and standardisation efforts that are shaping the future of the field.

The role of genomic medicine in diagnosis and treatment guidelines is growing over time. Alonso-González et al. demonstrate the clinical utility of a tiered virtual gene panel approach in idiopathic pulmonary fibrosis by identifying rare pathogenic variants, particularly in telomere-related genes RTEL1 and NAF1 [1]. Similarly, Chartier et al. highlight clinical utility of germline genetic testing in prostate cancer, revealing a significant enrichment of ATM and other DNA repair gene variants. Their findings highlight the refined genetic referral criteria and targeted treatment strategies for prostate cancers [2]. Leardini et al. report neonatal myeloproliferative disease (MPD) in ten patients with SH2B3 loss-of-function (LoF) mutations. They expand the clinical spectrum of MPD with later-onset thrombocytosis, and features such as growth delay, neurological impairment, and autoimmunity, that highlights the importance of long-term follow-up of affected individuals [3]. Also in this issue, Sagath et al. present comprehensive analysis of structural variants (SVs) in the NEB gene by analysing 35 families. They establish a link between heterozygous deletions and dominantly inherited distal myopathy, contributing valuable insights into genotype–phenotype correlation [4].

Understanding genetic neurodevelopmental and neurodegenerative conditions requires both insight into underlying mechanisms and the appropriate application of diagnostic innovations. Demaegd et al. challenge the traditional separation of ALS and SCA2 by showing that ATXN2 repeat expansions contribute to a spectrum of neurodegenerative disorders, including ALS, SCA2, Parkinsonism, and dementia. They propose the unifying term “ATXN2-related neurodegeneration”, emphasising pleiotropy and calling for a rethinking of current diagnostic categories [5]. Additionally, Mazel et al. elucidate the complex mechanisms underlying 16p13.3 microdeletions, highlighting their role in neurodevelopmental disease [6]. Next-generation sequencing (NGS) is an effective modality in the diagnosis of neurogenetic conditions, although its accessibility is still an issue in some countries. Van Tonder et al. demonstrate that targeted next-generation sequencing (NGS) panels can achieve a diagnostic yield comparable to high-income countries for neurogenetic conditions in resource-limited settings [7]. Also, untranslated regions (UTRs), often overlooked, can cause disease through various mechanisms. In this issue, Wieder et al.’s review provides essential resources to support the interpretation of UTR variants in clinical genetic testing [8].

Genomic medicine is also intercalated with health policy, ethics, digital transformation, and accessibility. In this issue, several studies explore these different aspects of the process. Usta et al. explore public and professional views on biobanking. Their survey study reveals strong support from both patients and healthcare professionals while also uncovering concerns around privacy and genetic discrimination and offers actionable insights to enhance biobank participation and ethical implementation in clinical settings [9]. Dawson-McClaren et al. shed light on the underutilisation of genetic testing by general paediatricians in Australia, despite available funding. They report a lack of capability, opportunity, and motivation as key barriers, which underscores the need for structured support to integrate genetic testing into routine paediatric practice [10]. At a population level, another Australian study demonstrates that expanded reproductive carrier screening (RCS) can be a beneficial investment for healthcare systems and society, as their study supports that RCS for 569 conditions is clinically impactful and cost-saving [11]. To bridge gaps in patient experience and service delivery, Saeedi et al. share their experience with the Genetics Navigator (GN), a platform designed to enhance genetic services from pre-test education to post-test management. With user-centred development and high usability scores, GN promises a strong potential to improve the accessibility and quality of genetic care [12].

Of course, the quality of speciality training for the next generation geneticists and every effort for a standardised education model are crucial for the future of genomic medicine. In this issue of EJHG, Turnpenny et al. describe the development of the European Certificate in Medical Genetics and Genomics (ECMGG) and its growing role in standardising specialist certification across Europe [13]. Complementing this, Moog et al. present the 2023 revision of the European Training Requirements for Medical Genetics (ETR-MG), which restructures the curriculum and integrates the ECMGG, aligning training with contemporary medical education principles [14].