Year: 2020
Type: editorial
Abstract: We are both delighted and enthusiastic about joining the American Journal of Medical Genetics (AJMG) in our new capacity of Co-Editors-in-Chief. As Deputy Editors-in Chief, we truly enjoyed working with Dr. Max Muenke, the previous Editor-in-Chief, the editorial board, and the leadership of Wiley, and are eager to continue these endeavors in a different role. In short, we both truly embrace this change, and look forward to serving the journal and its readership in a new way. Change is a constant companion. Change, however good or ill, can come from within or without. As the first 6 months of 2020 have shown the world, it is the collective reaction to change that is crucial. Harmful change from without, such as the COVID-19 pandemic, may cause reactionary behavior at first. Such change, with its dire consequences, can still yield novel insights for everything from healthcare fundamentals to renewed social awareness. It is proactive, organic change from within that will build upon past advances and lead to deliberate, targeted progress in research and clinical care. This change can serve to lay the foundations to build toward a brighter future. We are now a part of change that has come to The American Journal of Medical Genetics, as we assume the roles of AJMG Co-Editors-in-Chief. Anne Slavotinek: I am a Clinical Geneticist who trained in Oxford and Manchester in the United Kingdom before completing a residency at the National Institutes of Health in Bethesda so that I could become certified as a Genetics specialist in the USA. My interests include dysmorphology and the implementation of next-generation sequencing, elements of clinical practice that are very well served by the papers published in AJMG. I've served on the Editorial Boards of several journals, and have been honored to be a member of the Editorial Board of AJMG since 2013. I have also served as an Associate Editor for AJMG from 2017 and have shared the position of Deputy-Editor-in-Chief with Dr. Solomon since 2018. Anne Slavotinek Ben Solomon: I am a Clinical Geneticist who trained in the United States at the National Human Genome Research Institute (part of the National Institutes of Health), and have since worked in healthcare systems, government, and in private industry. I am interested in many aspects of genetics, especially related to studying how to improve the management of genetic conditions and human health, and how new genetic, genomic, and related approaches can benefit large populations and cohorts. I have served on the Editorial Board of several journals, and previously served as Deputy-Editor-in-Chief (with Dr. Slavotinek) of this journal. We are extremely grateful to Dr. Max Muenke, the outgoing Editor-in-Chief of AJMG, for his leadership and for his vision and innovation, which have enabled AJMG to remain at the pinnacle of publications in clinical genetics, and which provide a clear path forward for the journal. As a particular example, Dr. Muenke's devotion to diversity has led to the solicitation of manuscripts describing syndromes in populations that are underrepresented in the medical genetics literature (Girisha, Wonkam, & Muenke, 2018; Kruszka et al., 2017; Muenke, Adeyemo, & Kruszka, 2016). This timely change highlights the Editor's passion and interest in different communities all over the world, and his commitment to providing opportunities and support for those who are underserved in the medical genetics literature and in the field more generally. Dr. Muenke also pioneered the inclusion of manuscripts detailing syndromes across the lifespan, starting a series of articles describing syndromes in adults (Slavotinek & Muenke, 2019) and papers describing syndromes in the prenatal period. These papers broaden our understanding of how phenotypes evolve and help to inform prognosis, which are critical elements for optimal patient management and accurate genetic counseling. Dr. Muenke was also committed to publishing diagnostic and management guidelines in expert consensus papers that provide much needed information on rare disorders and facilitate patient care–examples of this include many articles published in AJMG part C on topics like arthrogryposis, congenital heart disease, overgrowth disorders, and sex chromosome conditions, to name a few. Along these lines, AJMG has continued its outstanding series of Seminars in Medical Genetics that flourished under the leadership of Dr. John Carey, a prior Editor-in-Chief (Carey, 2001). Benjamin D. Solomon. Genetics information is evolving apace and the need for timely dissemination of novel gene discoveries and variant interpretation is still growing. We plan to support the rapid publication of reports containing exome, genome, transcriptome, and other "omics" data related to the characterization of novel and emerging genetic syndromes. Such reports could include additional cases and "clinical pearls," new clinical features leading to phenotypic expansion, and studies on novel variants and other genetic/genomic findings that can improve the future analysis of genomic data. In a new direction for the journal, we would like to encourage the submission of manuscripts containing functional data for variant characterization and interpretation, as long as these studies relate to a syndrome or condition within the realm of clinical genetics. We are highly interested in papers that study the best practices for the implementation of genomics in clinical care, including adaptations of counseling strategies for different populations and the economic and related societal implications of genetic testing. We would welcome papers that describe treatments and management of syndromes and medical genetic conditions; this is particularly pertinent in the era of personalized genomics. Similarly, the increase in knowledge required for specialty practice in Genetics and the need for lifelong learning will lead us to prioritize papers that discuss the best educational practices for genetics and non-genetics health providers, parents and families, and other stakeholders from the medical community. In other words, we emphasize the importance of translating new clinical and scientific knowledge into practice. Finally, it has become clear that the field of medical genetics has extended far beyond focused research labs in traditional academic settings. Currently, large proportions of overall genetic and related clinical data are generated, analyzed, and interpreted in diverse settings, including commercial laboratories, device manufacturers, pharmaceutical companies, "tech" entities, and other members of the growing biotechnology ecosystem. In addition to housing much of this important information, these entities often develop novel methods that relate to the care of patients with genetic conditions, the analysis of data in a clinically relevant way, and the support of genetic clinicians. We aim to provide a rigorous, peer-reviewed means to ensure that findings that arise in these settings, and which would be valuable for the medical genetics community, can be shared in a timely fashion. We are excited to work with AJMG, our associate editors, reviewers, authors and readership in the next phase for the journal. We will welcome suggestions for content that is most relevant to the field of clinical genetics. We feel that we too are, "Standing on the shoulders of giants" (Muenke, 2017). The authors are very grateful to the past Editor-in Chief of AJMG, Dr. Max Muenke, and to Dr. Mark Paalman from Wiley Periodicals, who generously gave their time to discuss ideas for this Editorial.
DOI: 10.1002/ajmg.a.61715
Authors: Anne M. Slavotinek, Benjamin D. Solomon
Institution: University of California, San Francisco
Language: English
Subfield: History and Philosophy of Science
Field: Arts and Humanities
Domain: Social Sciences
Open Access status: bronze
OpenAlex ID: W3034025577