key: cord-0910482-7nmtsgyq
authors: McNeill, Alisdair
title: Clinical genomics—but faster
date: 2021-05-19
journal: Eur J Hum Genet
DOI: 10.1038/s41431-021-00906-w
sha: 7b79c57dcfc00a9b1d7571ad9e04fdf612946219
doc_id: 910482
cord_uid: 7nmtsgyq

nan

Until recently clinical genomic testing was a slow and laborious process. Advances in sequencing and bioinformatics have made genomic testing more accessible and rapid in clinical practice. In this issue of EJHG John McDermott presents a new evolution of this conceptbedside testing for COVID-19 infection [1] . Elin Tonne describes the Norwegian experience of exome sequencing for craniosynostosis; clearly documenting the advantages of exomes for diagnosis in this group [2] . Exome and genome sequencing continues to identify novel genomic disease and assist in their characterisation. In this issue of EJHG, novel disorders associated with HEATR5B [3] and MADD [4] are described. This provides important insights into the diagnostic significance of variants in these genes. Our understanding of the molecular architecture of disease is also being revolutionised by exome sequencing. Previously heterozygous Junctophillin-3 variants were associated with an adult neurological phenotype, here bi-allelic variants are described in a neurodevelopmental disorder [5] . Widespread access to rapid, low-cost sequencing has its downsides. Francesca Forzano presents an ESHG position statement on how genetic testing and biobanks can be misused-with potential for discrimination-and how to avoid this [6] . In clinical practice, there is controversy over how to handle unexpected or incidental findings on exome sequencing done for developmental delay. With parents and clinicians sometimes having differing views on disclosure [7]. Increased sequencing also leads to centres identifying new cases of highly rare conditions. Often clinician researchers seek to publish these. But what type of "case report" is of interest to EJHG? Simply adding a clinical description of a rare condition is not enough. The report of WNT2B [8] is a great example of a modern "case report". First, published clinical descriptions are extremely few with a clear need to expand documentation of the phenotype. The clinical evaluation is exhaustive, adding novel features to the phenotype. The report documents the expression of WNT2B in human gut and adds to our understanding of disease mechanisms. We hope you enjoy this month's issue and find it useful for your clinical and research work. This month the EJHG editorial office relocates from Leiden to the University of Sheffield. All submissions will continue to be handled by the existing online manuscript submission system. 

The rise of pointof-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting

Benefits of clinical criteria and highthroughput sequencing for diagnosing children with syndromic craniosynostosis

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders

ESHG warns against misuses of genetic tests and biobanks for discrimination purposes