Posts for Archives: Publications

Following publication of the ACMG Annual Meeting Abstract Supplement, errors were identified in the author information for a number of abstracts. These errors were introduced during the export and processing of data from the conference abstract submission system and affected the published author listings. The scientific content of the abstracts was not affected.

Germline ATM pathogenic or likely pathogenic (P/LP) variants are increasingly recognized as clinically relevant in hereditary cancer predisposition, their integration into routine testing remains heterogeneous across countries. We describe the prevalence, tumor spectrum and relative risk associated with germline ATM P/LP variants in individuals with breast and pancreatic cancer.

The American College of Medical Genetics and Genomics (ACMG) expresses significant ethical concern regarding the mandatory genetic testing of the SRY gene (HGNC:11311) to determine Y chromosome presence among participants in women’s competitions. The recent decision made by the World Athletics (effective September 1, 2025) followed by the International Olympic Committee (effective for the Olympic […]

Genomic testing is being recognised as an integral part of the management of individuals with epilepsy. However, despite the increasing utility of genomic testing in epilepsy, a significant proportion of patients who are suspected to have a monogenic cause, do not receive a molecular diagnosis. Re-analysing existing genomic data increases the molecular diagnostic yield over […]

Despite the increasing use of exome sequencing (ES) and genome sequencing (GS) in clinical settings, many individuals remain undiagnosed. This study examined the Undiagnosed Diseases Network (UDN)’s approach to establishing diagnoses for participants.

Functional genomics (FG) approaches, such as RNA-seq and proteomics, offer a complementary diagnostic modality for individuals whose cases remain unsolved after genomic sequencing. This study evaluates the cost-effectiveness and cost-benefit of FG for individuals with suspected monogenic disorders relative to manual reanalysis of genomic data at 18 months.

A sudden illness in family, such as cancer, is known to have significant economic effects, but the consequences of a child’s genetic disease on parental income and employment have gained much less attention. This study examines the association of having a child with neurofibromatosis 1 (NF1) and parental income and employment.

Postmortem genetic testing (PMGT) can clarify the causes of sudden cardiac death (SCD) in children and young adults and provide preventive care for relatives. We systematically reviewed studies to estimate the detection rate of pathogenic variants identified by PMGT in SCD cases aged 1–50 years and examined factors influencing detection rates.

Unravelling causal links between unique structural/copy-number variants (SV/CNV) and associated phenotypes is essential for correct genetic counselling. We investigated two families in which patients with craniosynostosis had SV/CNV potentially dysregulating a fibroblast growth factor (FGF)-encoding gene; a 730 kb dup(4)(q21.21) including FGF5; and a complex 568 kb interspersed 13q12.11 duplication, located 841 kb from FGF9.

Atypical results from prenatal cfDNA screens are on the rise; however, the impact on pregnancy outcomes has not been studied on a large scale. This study aims to determine the diagnostic yield of invasive testing after atypical cfDNA findings and to describe the types of findings that can trigger an atypical cfDNA screen.