📄 Category

genetic and genomic medicine

181 papers

Genetic and genomic medicine explores how our DNA shapes health, disease risk, and responses to treatment. This rapidly evolving field moves beyond simple family trees to examine the complex molecular instructions that guide every cell in the human body. By decoding these biological blueprints, researchers aim to unlock personalized therapies that target the root causes of illness rather than just treating symptoms.

On Gist.Science, we bring the latest discoveries directly from medRxiv, the leading preprint server for health sciences. We process every new submission in this category as it arrives, transforming dense academic findings into both detailed technical breakdowns and clear, plain-language summaries. This ensures that groundbreaking research is accessible to clinicians, scientists, and curious readers alike without the usual barriers of jargon.

Below are the most recent papers in genetic and genomic medicine, organized for your review.

📄 genetic and genomic medicine

Assessing Swedish Genetic Counselling Outcome Measures for Autism and General Use: Rasch Findings Highlight the Need for Improved Measures

This study presents the first Swedish autism-specific adaptation of the Genetic Counselling Outcome Scale and, through Rasch analysis, reveals that while the modified version offers some usable subscales, both it and the general scale suffer from significant psychometric limitations, suggesting a need for more substantially adapted tools to accurately measure genetic counselling outcomes in autistic populations.

Nordstrand, M., Fajutrao Falk, S., Johansson, M., Pestoff, R., Tammimies, K.2026-04-15
📄 genetic and genomic medicine

Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis

This study demonstrates that colibactin-associated mutational signatures in the human colon are primarily driven by anatomical location (specifically the rectum) and early exposure rather than playing a causal or prognostic role in colorectal cancer oncogenesis.

Hiatt, L., Peterson, E. V., Happ, H. C., Major-Mincer, J., Avvaru, A., Goclowski, C. L., Garretson, A., Sasani, T. A., H (…)2026-04-15
📄 genetic and genomic medicine

Characterization of a pancreatic cancer GWAS signal suggests PDX1 buffers stress in the exocrine pancreas

This study identifies rs9581943 as a causal variant in a pancreatic cancer GWAS signal that reduces PDX1 expression, thereby impairing its ability to buffer cellular stress and maintain epithelial stability in the exocrine pancreas.

Hoskins, J. W., Christensen, T. A., Eiser, D., Char, E., Mobaraki, M., O'Brien, A., Collins, I., Zhong, J., Patel, M. B. (…)2026-04-15
📄 genetic and genomic medicine

Shared genetic architecture of cortical morphology and psychiatric disorders: insights from a cross-trait analyses across 180 cortical regions

This study reveals that while cortical morphology and psychiatric disorders share substantial genetic overlap, the architecture is characterized by complex regional heterogeneity and opposing directional effects, which likely limits the ability to predict psychiatric disorders based on brain morphology.

Zhang, Y., Ge, T., Mallard, T. T., Choi, K. W., Anxiety Disorders Working Group of the Psychiatric Genomics Consortium, (…)2026-04-13
📄 genetic and genomic medicine

Multi-Ancestry Survival GWAS of Substance Use Initiation in the ABCD Study

This study leverages longitudinal survival analysis within the multi-ancestry ABCD Study to identify genetic variants associated with the timing of substance use initiation, demonstrating that incorporating developmental timing and diverse ancestry groups reveals significant genetic signals, including a genome-wide significant locus for nicotine, that are often missed by traditional binary outcome designs.

Wei, M., Peng, Q.2026-04-11
📄 genetic and genomic medicine

Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders

By analyzing 173 multiplex Portuguese families, this study reveals the shared genetic architecture of schizophrenia, mood disorders, and autism, identifying a rare CHD2 loss-of-function mutation that demonstrates how single neurodevelopmental gene disruptions can cross diagnostic boundaries to cause diverse serious mental illnesses.

Pato, C. N., Pato, M. T., Mulle, J., Hart, R. P., Pang, Z., Knowles, J. A., Singh, T., Maddhesiya, P., Carvalho, C., Mer (…)2026-04-07
📄 genetic and genomic medicine

Ancestry-stratified variant classification in monogenic diabetes genes: annotation coverage and differential curation burden

This study reveals that while non-European patients with monogenic diabetes face a significant 70% annotation gap in ClinVar and gnomAD, the primary equity issue is not a simple excess of variants of uncertain significance but rather a distinct curation deficit and reclassification lag compared to European populations, highlighting the urgent need for ancestry-stratified evaluation of variant curation standards.

Dario, P.2026-04-07
📄 genetic and genomic medicine

Religious beliefs and practices, political orientation, and distrust in healthcare predict attitudes toward mRNA vaccines in the United States

A secondary analysis of a large U.S. survey reveals that attitudes toward mRNA vaccines are significantly shaped by religious affiliation, political orientation, and healthcare distrust, with Evangelical Protestants and those holding conservative or fundamentalist views showing greater skepticism compared to atheists and liberals.

Solomon, E. D., Chin, E. G., Baldwin, K., Baker, L. L., DuBois, J. M.2026-04-07
📄 genetic and genomic medicine

PAVS: A Standardized Database of Phenotype-Associated Variants from Saudi Arabian Rare Disease Patients

The paper introduces PAVS, a standardized, publicly accessible database integrating thousands of Saudi Arabian and global clinical cases with phenotype-genotype data to address the lack of population-specific resources and demonstrate high utility in prioritizing disease-causing genes for under-represented populations.

Abdelhakim, M., Althagafi, A., SCHOFIELD, P., Hoehndorf, R.2026-04-06
📄 genetic and genomic medicine

Genomic ascertainment of PALB2-related cancer predisposition

This study demonstrates that genomic ascertainment of heterozygous *PALB2* pathogenic variants in large population cohorts reveals significantly elevated risks for breast and pancreatic cancers, as well as increased all-cause mortality, with risks further modified by family history but generally lower than estimates derived from familial ascertainment.

Stewart, D., Kim, J., Haley, J. S., Li, J., Sargen, M. R., Hong, H. G., Tischkowitz, M., McReynolds, L. J., Carey, D. J.2026-04-04