Implementation, communication, ethics, and family-history practice. For counsellors and genetic nurses keeping up with the wider conversation.
27 stories · Last updated
The world's first randomised trial of a multi-cancer early detection blood test did not meet its primary endpoint, though commentators argue the results carry important signals for the field of early-detection genomics.
The UK National Screening Committee has endorsed a risk-stratified approach to prostate cancer screening, focusing on men who carry a BRCA2 pathogenic variant and have a relevant family history of cancer.
The antibody-drug conjugate mirvetuximab soravtansine has been added to the NHS England treatment portfolio for platinum-resistant ovarian cancer — the first new approved option in this setting in more than two decades.
A preprint reports that 4% of Rwandan breast cancer cases in a 175-woman cohort carry a single recurrent BRCA1 frameshift variant tracing to a common ancestral haplotype of around 581 kb.
A preprint reports that base editors — which introduce single-letter DNA changes without cutting both DNA strands — avoided the aneuploidy and large deletions seen with standard CRISPR-Cas9 in early human embryos.
Researchers have posted a preprint describing MAGI, a computational method that uses genomic foundation models to generate mechanistic annotations of genetic variants — aiming to move beyond binary pathogenicity labels towards interpretable biological explanations.
Researchers studying the Mediator Kinase Module find that heterozygous MED13L variants consistently produce aberrant cyclin C localisation and mitochondrial dysfunction across multiple patient-derived cell models.
A University of California San Francisco team has applied to the FDA for permission to run a small first-in-human trial of gene therapy delivered before birth for a rare lysosomal storage disorder.
New NHS England data show that mobile scanning units deployed at supermarkets, sports stadiums and high streets have detected 10,678 lung cancers, more than three-quarters at stages one or two.
The D4Z4caster assay uses targeted bisulfite sequencing of the D4Z4 repeat array to stratify individuals who may carry the epigenetic hallmarks of facioscapulohumeral muscular dystrophy.
A Cancer Research UK commentary argues that structural and funding barriers are slowing the translation of population-level genetic and lifestyle risk data into cancer prevention strategies.
Cancer Research UK analysis shows melanoma incidence has reached its highest recorded level in the UK, raising questions about prevention, surveillance, and the role of genetic risk factors.
A bioRxiv preprint reports exploratory and confirmatory factor analysis of the EAGL measure in 2,708 US participants, introducing a knowledge comprehension subscale alongside standard subjective and objective knowledge components.
Nusinersen and risdiplam will be routinely available on the NHS in England following an evidence-collection access scheme, giving families with spinal muscular atrophy long-term certainty.
A commentary in Nature Human Behaviour challenges widespread framing of polygenic risk scores as fixed biological traits, with implications for research communication and public understanding.
A PHG Foundation analysis highlights how genetic variants affecting red blood cell biology can cause HbA1c to misclassify diabetes risk, with disproportionate impact across ancestry groups.
A new systematic review published in 2026 concludes that prostate-specific antigen blood testing likely reduces the risk of death from prostate cancer, though over-diagnosis and over-treatment remain concerns.
A bioRxiv preprint describes a homozygous missense variant in MGME1 — a nuclear-encoded gene essential for mitochondrial DNA maintenance — identified in five affected individuals from unrelated South Indian families presenting with multi-systemic mitochondrial disease.
A bioRxiv preprint reports that inhibiting the epigenetic regulator SMCHD1 can reactivate silenced maternal copies of genes in the Prader-Willi syndrome imprinted locus in cellular and animal models.
A bioRxiv preprint describes sustained preservation of retinal integrity and function following AAV8-delivered PEX1 gene therapy in a murine model of Zellweger spectrum disorder.
A five-laboratory evaluation published as a preprint on bioRxiv finds that an amplification-based Oxford Nanopore workflow can reliably detect clinically relevant variants in genes with architectures that challenge short-read methods.
A paper in Nature Medicine reports that Australia has passed legislation preventing life insurers from using genetic test results to discriminate against applicants — a significant regulatory development with implications for genetic testing uptake.
Case reports published in Communications Medicine describe clinical use of the MEK inhibitor trametinib in two patients with multiple non-ossifying fibromas attributed to somatic mosaic KRAS mutations.
Researchers report that the histone acetyltransferase KAT6A is required for normal expression of developmental control genes in neural stem and progenitor cells, with implications for understanding Arboleda-Tham syndrome.
A paper published in the European Journal of Human Genetics examines variation in the training, registration, and scope of practice of genetic counsellors across European countries and proposes steps towards harmonisation.
An author correction has been issued for the Nature Genetics paper identifying biallelic RNU4-2 variants as a cause of a recessive neurodevelopmental syndrome with distinct white matter changes.
Researchers report findings from opportunistic screening of healthy controls in an Australian biobank, examining the yield and implications of returning genomic results outside a clinical referral pathway.
About Genetic Current
Genetic Current is the news section of Evagene, an academic, research, and educational pedigree-modelling platform. Stories are AI-drafted summaries of items from trusted public sources, written for researchers, clinicians, educators, students, genealogists, and patients with an interest in genetics. Summaries are for educational and research purposes only and are not medical advice.
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