Editor’s Choice Article Selection
“We are delighted to highlight some of our top cited recent manuscripts from GIM. Considering the wide scope of our journal, it shouldn’t be too surprising that the top cited articles range in topic from prenatal diagnosis to newborn screening to cancer genetics to therapeutics and include other topics as well. Indeed, we strive to publish the top genetics and genomics research in all areas of interest to our readers. Nevertheless, it is rewarding to see that virtually all topics covered by GIM are represented among the top cited articles. We hope you enjoy perusing this list and (re)-reading the articles that catch your attention as much as I did.”
Dr. Robert D. Steiner
University of Wisconsin-Madison School of Medicine and Public HealthEditor-in-Chief, Genetics in Medicine
Article selection
- Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
- A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
- The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
- Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
- Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA
- Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
We hope you enjoyed this article selection.
An interview with Genetics in Medicine author, Richard Goldstein, MD
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Richard Goldstein, MD Director, Robert’s Program on Sudden Unexpected Death in Pediatrics, Division of General Pediatrics, Boston Children’s Hospital Associate Professor of Pediatrics, Harvard Medical School |
Can you tell us a bit about your research?
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Ingrid A. Holm, Annapurna H. Poduri, Richard D. Goldstein
We are interested in the problem of sudden, unexpected death in an apparently healthy infant or child that remains unexplained after a standard postmortem assessment. We focus primarily on sudden infant death syndrome, which is the leading cause of mortality in infants between one month and one year of age, but it is important to recognize that similarly unexplained, generally sleep-related deaths, account for over 10% of child mortality in the US. Because the postmortem assessment of these children occurs in public medical examiner systems, the problem has been insulated from many of the developments we take for granted in academic centers, especially genetics.
We take a precision medicine approach that parallels efforts by the NIH Undiagnosed Diseases Network. We concentrate on careful phenotyping, including personal and family histories, circumstances of death and three generation pedigrees, as well as re-evaluating pathology and neuropathology from the autopsy. We assess whole exome sequencing against the phenotypic data, preferably using parent-proband triads. While these deaths are largely considered sleep accidents involving “normal children” in the pediatric community, we are demonstrating that the picture is more complicated and that heterogeneous vulnerabilities can be found, often with a genetic basis. While our paper reports variants with established disease associations in 11%, we have shown elsewhere that a substantial portion of these children have abnormalities in brainstem serotonin and temporal lobe changes otherwise described in epilepsy. We also pursue the question of whether there are genetic causes with catastrophic presentations that cannot be found in genetic databases compiled from patients with survivable diseases, thus lacking established disease associations because they have not been recognized to exist.
How was your experience publishing with Genetics in Medicine?
One of the reasons we chose to submit to GIM was our hope for careful and informed peer review, and it was a good call. I think the standards of the journal and their stringency in evaluating our findings strengthened the final manuscript. Personally, this was especially important because our findings challenge the status quo. We had a good experience in other ways—quick and detailed responses from reviewers, helpful comments from the editor, and a fairly rapid time to going into press.
Why is Genetics in Medicine important to the genetics community?
We wanted a journal that could evaluate our work through a sophisticated genetic science lens and bring our work to readers who could then assess it critically. GIM has become the premier genetics journal, particularly for clinical/translational and ELSI research. Its broad distribution and association with the AMCG allow us to reach a diverse audience who might find interest in our work. GIM provides a novel venue for publication in clinical research, policies, guideline, and ethics that are all important to those boarded in genetics, whether clinically or laboratory trained.
How do you see the genetics field developing in terms of new and emerging topics, and/or business models?
Our program is especially interested in finding ways to understand the functional significance of compelling variants that lack established disease associations, credible steps in disease discovery, if you will. Other emerging topics include genomic screening to identify those at risk for disease and other ways to integrate genomics into health care, especially its dissemination into front-line diagnosis.
