ASHG Interviews AJHG Editor, Bruce Korf, MD, PhD and HGG Advances Editor, Mike Bamshad, MD

ASHG’s journals,  The American Journal of Human Genetics (AJHG) and the newest open access journal, Human Genetics and Genomics Advances (HGGA) launched in May of 2020,  serve as complementary venues for publishing science that promote discovery, innovation, and rigor in the genetics and genomics field. Each journal embraces its own distinct identity while staying true to ASHG’s core values by advancing the field through the publication of rigorous science. Recently we had a chance to conduct a virtual sit-down featuring Mike Bamshad, MD, Editor-In-Chief of HGGA, and Bruce Korf, MD, PhD, Editor-In-Chief of AJHG, to discuss both journals, their intersection, and shared mission to continue to provide the Society’s members and the field with two great options for publishing research.

What is the editorial process like for HGGA and AJHG?

Bamshad: One of the strengths of HGGA is that all manuscripts selected for review are processed by a board of Associate Editors who are peer scientists and experts in broad topical areas of human genetics. Associate Editors identify reviewers, assess comments and criticisms from each reviewer and the response to such reviews, and finally, determine the disposition of each manuscript (e.g., reject, revise, accept). Reviewers typically are sought from domain experts actively engaged in research, and HGGA makes an effort to solicit the opinions of experts from diverse perspectives and backgrounds. Reviewers are provided with a discount of 3% for each manuscript they review, and their cumulative reviewer credits (in addition to the 20% ASHG member discount) can be applied toward the article processing charge for any manuscript they publish in HGGA for which they are a first and / or corresponding author.

Korf: Once a manuscript is submitted to AJHG it is assigned on a rotating basis to a member of the editorial team, including Sara Cullinan, the deputy editor, Sarah Ratzel, the scientific editor, and myself.  That individual will read the cover letter and the paper and lead a discussion of the paper in a daily videoconference, leading to a consensus on which manuscripts should be sent for review.  The decision is based on a combination of factors: (e.g., is the work scientifically rigorous, is it within the scope of the journal, is it well-written.) Although it might be a disappointment for an author to have a paper quickly returned without review, our intention is to provide the author a chance to submit elsewhere without waiting weeks for what we anticipate would be an unfavorable review.  It can be helpful to submit a brief synopsis of the paper (e.g., an abstract and brief cover note) to the editors for pre-submission review.  We can often guide authors as to whether the paper is in scope for the journal however, we can’t promise that it will be reviewed until after we’ve seen the full manuscript after submission, but we can often predict that the paper might not be a good fit for AJHG.

Michael Bamshad, MDOpen-access, digital platforms such as HGGA are the future of scientific publishing as they facilitate fast dissemination of manuscripts in both conventional and creative formats, easily support meaningful data sharing, and can encourage post-publication adjudication of results.”

– Mike Bamshad, MD, Editor-In-Chief of HGGA

If it is decided to send the paper for review, we aim to pick reviewers who are knowledgeable about the field and are not likely to be conflicted; for example, we will avoid asking potential reviewers at the same institution or who have published frequently with the authors.  We appreciate when authors suggest reviewers and often use these suggestions, though we are also wary of potential conflicts.  If an author asks us to exclude some individuals as reviewers, we will honor that request.  We seek at least two reviewers for each paper.  We recognize that the review process is time-consuming and sometimes it takes a while to find willing reviewers; this is one of the things that sometimes delays review of a paper.  We ask reviewers to return their reviews within two weeks.   Most do so, but late reviewers are another source of potential delays.  The editor who is handling a particular paper will go over the reviews and these, too, are discussed on our daily calls.  Usually, it is clear whether a paper should be sent back to an author for revision or rejected based on the reviews.  Sometimes we get a split review – one reviewer proposes revision, the other rejection.  We might make an editorial decision on which way to go based on the comments of the reviewers, or we might ask an additional reviewer to weigh in.

If the paper is returned to the author for revision, we will be looking for a point-by-point response to the reviewers’ suggestions.  The author does not need to accept all suggestions but should explain the rationale for not doing so if they choose not to follow a proposed revision.  The revised manuscript is usually sent back to the reviewers for an opinion as to whether the revisions are satisfactory.  We typically allow only one round of major revision, though sometimes another round of minor revisions will be requested.  Ultimately, if the revisions are acceptable, we will do a final careful reading of the paper to be sure that it conforms with AJHG style and formatting requirements.  This might require additional revisions.  Once these are done the paper is “Accepted in Principle,” with a request for submission of a finalized version of the manuscript and figures.  If all is then in order, the paper will be accepted for publication.

With the advent of Human Genetics and Genomics Advances we have the option of offering transfer of a paper from AJHG to HGGA.  The decision of whether to transfer the paper is up to the author.  Transfer may be offered either prior to or after review.  If the latter, we will also transfer the reviews to the HGGA editors, with the permission of the reviewers.

What are some of the benefits of submitting your science to HGGA and AJHG?

Bamshad: We think open-access, digital platforms such as HGGA are the future of scientific publishing as they facilitate fast dissemination of manuscripts in both conventional and creative formats, easily support meaningful data sharing, and can encourage post-publication adjudication of results. So, for members who already have strong beliefs about the principle of open-access or are required to publish in an open access journal by their funders, HGGA is an ideal choice. For ASHG members who have limited experience with open access publishing, HGGA offers a forum for publication of their work within the context of an ASHG publication that, like AJHG, provides quality control and improvement in the scientific rigor of its papers through robust peer review by experts in the field.

The merits of open access publishing as a means of quickly and effectively communicating scientific knowledge to a global readership has been underscored during the COVID-19 pandemic. Indeed, much of the scientific information about the pandemic has been published on open access preprint servers and made available for consumption and debate by other scientists, policymakers, and public health officials almost immediately. Speedy reporting is important in science and digital, and open-access platforms like HGGA will lead the way.

KorfAJHG is now more than 70 years old, and it is recognized as one of the premier journals in which to publish human genetics research.  The major reason to publish with AJHG is that the journal is widely read and recognized, so it offers high exposure to a broad audience interested in human genetics and genomics.  Beyond this, there are other reasons.  We strive to maintain excellent relations with authors – this begins with timely and fair processing of manuscripts and includes a willingness to work with authors throughout the editorial process.  And AJHG is the flagship journal of ASHG; as such, it provides a forum to showcase your work to your colleagues in our discipline.

What type of articles are HGGA and AJHG publishing and what type of manuscripts are they are seeking from submitters?  

BamshadHGGA will have a distinct identity of its own without any compromise as to the scientific quality or robustness of its content.  We solicit manuscripts from all domains of genetics and genomics research. The size, composition, and complexity of ASHG has dramatically increased since the launch of the AJHG, and HGGA will strive to ensure that all members think that the combined content of AJHG and HGGA together represents the platform for their best scientific work. To this end, we are particularly encouraging submissions in clinical genomics, precision medicine, population and anthropological genetics, reproductive genetics, and genetic counseling.

We have also focused on recruiting Associate Editors from across a broad range of career stages (e.g., early career and established investigators of different gender identities, ancestral backgrounds, geographic locations, and research experiences). We anticipate that such diversity among the Associate Editors will facilitate identifying and soliciting manuscripts from both a broad range of topical areas and from diverse content submitters. This is, of course, somewhat of a passive approach and we are considering active strategies to encourage content submissions from communities historically under-represented in print publications. Achieving diversity in research in general is challenging and we look forward to exploring options and finding solutions in collaboration with the ASHG.

KorfAJHG publishes research on “human genetics,” but the definition of human genetics is broad and is rapidly evolving.  We seek to publish papers that cover the human genetics waterfront, ideally reflecting the diverse research interests of the human genetics community.   We have published many papers describing genetic variants responsible for rare Mendelian disorders, especially since genome sequencing has vastly increased the ability to identify these genes.  We are likewise interested in papers that dissect the genetic architecture of common complex disorders.  Papers on statistical and computational approaches to study of human genetics problems are also welcomed.  We are now seeing papers describing therapeutic interventions for genetic disorders, as well as studies of genomic medicine implementation, and bioethical issues in human genetics.  I am hesitant to even try to classify the topics of potential interest to AJHG for fear of leaving things out.  Authors should not make any assumptions on what we are interested in publishing, other than that the paper should be on a topic relevant to human genetics.  If we have not published a paper like yours before, don’t assume that we won’t consider it now – send us your best human genetics research and explain in the cover letter why you think it is important.  We recognize that human genetics is evolving with unprecedented speed, and that the Journal needs to evolve along with our field.

Most of the papers submitted to AJHG describe original research, but we also welcome review papers and commentaries.  Recently we launched a new type of paper called “Perspective,” which allows for a longer paper than a commentary, allowing the author to review the relevant literature and express an opinion on the status of the field.  AJHG also publishes major policy and position statements issued by ASHG.  Finally, for the past two years we have partnered with the National Human Genome Research Institute (NHGRI) to publish a Genomic Medicine Year in Review piece in December.

“Authors should not make any assumptions on what we are interested in publishing, other than that the paper should be on a topic relevant to human genetics… send us your best human genetics research and explain in the cover letter why you think it is important.”

Bruce Korf, MD, PhD, Editor-In-Chief of AJHG

Can you explain the excitement around charting the course with a new open access journal such as HGGA and why this it serves as complement to ASHG’s flagship journal AJHG and the Society’s commitment to publishing high-quality research?

Bamshad: The way that human genetics research is done is rapidly changing, characterized by more collaborative, networked, and public ways of sharing data, results, and ideas. This evolution has been driven by the growing recognition that these changes have profound benefits, accelerating the pace of scientific progress and the translation of research findings to clinical practice. We expect HGGA to serve as both a catalyst and a platform for developing, testing, and implementing novel online strategies for reporting and disseminating research advances in a timely, open, and innovative way; sharing data meaningfully; and committing from its inception to build equity in scientific publishing. And we will strive to make these changes in ways that we hope will feel natural for the human genetics community to embrace.

AJHG and HGGA plan to continue their growth respectively, both by strategic decisions derived from ongoing discussions between the editorial boards as well as the feedback and input from the genetics community on how both journals can sustain their mission to best serve the field.  To read the latest science being published or submit your own research you can visit the HGGA or AJHG websites.

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