Clinical Exome/Genome Reports‐Announcement

Abstract

I am delighted to announce that Clinical Genetics will be starting a new online only section on Clinical Exome/ Genome Reports. Exome sequencing and analysis is an important novel approach for the discovery of “new” human Mendelian diseases. This section will highlight cases of high quality patient data to the medical genetics community and will serve as excellent resource for finding exome publications. The articles published will also be indexed on Pubmed. Drs. Sergio Pena and Stefan Mundlos will be the co-Section Editors for this new feature. Dr. Pena is a Professor of Biochemistry at the Universidade Federal de Minas Gerais in Brazil, and Dr.Mundlos is the Director of the Institute for Medical and Human Genetics at the Charité in Germany. They are both experts in the field and will bring new insights to this section. For more information about the author guidelines-go to (http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004/homepage/ForAuthors.html). We welcome your submissions to this section. Best wishes, Michael R.Hayden, Editor-in-Chief, Clinical Genetics Whole exome sequencing (WES) and whole genome sequencing (WGS) have revolutionized clinical genetics through the discovery of new genes, the characterization of new genetic diseases, and the description of new phenotypic features in previously known disorders. However, as pointed out in recent papers 1, 2 these genomic techniques are not optimal in a purely diagnostic setting because of the problem of establishing with certainty whether an individual genomic variant is responsible for the disease afflicting an individual patient. After one narrows down the list of candidate genes to a most likely one that has clear pathogenic features and whose product has an obvious connection with the abnormal phenotype, one cannot be certain that it is indeed “the culprit” of the disease in the specific patient unless the specific variant has already been previously described in association with the abnormal phenotype. To establish causation, it is often necessary to embark in extensive and expensive experiments in cell and developmental biology, including knock-out and knock-in experiments in cell cultures and/or model organisms. An alternative approach would be to collect several patients with a similar clinical picture. If mutations in the same locus were found in similar patients from different families, then one could, at least provisionally, infer a genetic causation from the altered gene to the disease. But to amass a collection of patients is not an easy task for a single genetic service, especially if the disease in rare. This is the motivation for the creation of the “Clinical Exome and Genome Section” in Clinical Genetics. We are open for the evaluation and eventual publication of individual cases providing evidence suggestive of the discovery of new genes, the characterization of new genetic diseases, or the description of new phenotypic features in previously known disorders. We expect that these individual reports will then percolate through the clinical genetics community and will stimulate the WES/WGS study of the indigitated genetic locus (or loci) in other individual patients with similar disease phenotypes. In this fashion, eventual matches will then prompt further publications and stimulate the involvement of basic scientists in the functional confirmation and the elucidation of the appropriate pathogenetic mechanisms. We hope to have thus established a strategy of how the publication of well-studied single cases can reverberate and lead to major advances in molecular genetics. Please send us your interesting cases! Sergio Pena Stefan Mundlos