American Journal of Medical Genetics Part A

Cover image for Vol. 173 Issue 10

Edited By: Maximilian Muenke

Impact Factor: 2.259

ISI Journal Citation Reports © Ranking: 2016: 96/166 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, American Journal of Medical Genetics Part C: Seminars in Medical Genetics

For Referees

Peer Review for the American Journal of Medical Genetics

Thank you for agreeing to be a reviewer for the American Journal of Medical Genetics.  The Journal depends on peer reviewers to maintain the quality and integrity of the Journal and to advance our discipline.  These instructions give some background for our reviewers and some instructions for completing a review.


What peer review is

The philosophical basis of peer review is that “…science works best in an environment of unrestrained criticism” 1 and that scientific manuscripts benefit from critical review by peers who are expert in the area of research of the manuscript as well as from experts in other areas, who can assess the general utility of the paper.  More practically, peer review is “…a negotiation between the author and journal about the scope of knowledge claims that will ultimately appear in print.” 2 Your evaluation of the manuscript is a critical component of that negotiation.

The most important thing for a reviewer to remember is that it is their charge to determine how the authors could improve their manuscript, not to simply assault a manuscript.  The task for the editors is to screen and select papers for publication or rejection.  This is why we ask reviewers NOT to indicate in their reviews whether a paper should be accepted or rejected.

What peer review is not

It is abundantly clear that peer review is not a valid assessment of the correctness or importance of a work.  There are numerous examples of stunningly good research papers that were rejected by good journals.  These include Bruce Jenner’s paper describing the smallpox vaccine, Rosalind Yalow’s paper describing the radioimmunoassay, and Hans Krebs paper on the citric acid cycle.  Reviewers should not feel that they have the burden of determining the true historical value of a work.  Instead, they need to evaluate the quality of the work and how it might be improved, as well as how it fits with currently important scientific and medical questions.

Why you should be a peer reviewer

There are a number of reasons to do this, some of which are altruistic, some with benefits for the reviewer.  The first is that you may regard this request as an honor or a way to repay your debt to the field.  Hopefully, you have published papers that have benefited from the peer reviews of other scientists.  As well, you may feel that your peer review will improve the quality of science in a small way by making one manuscript a little bit better.  Some ways that peer review can benefit you is that you can learn how to think critically by seeing how other scientists approach their questions.  You can learn how others design and describe their studies, and you can learn how editors judge manuscripts.  These benefits must be approached cautiously, however, to avoid conflict of interest issues, which are discussed below.

Why you may not want to be a peer reviewer

The biggest issue is time. The median time to prepare a review is 2-3 hours 3 for experienced reviewers, maybe 8-12 hours for novices 4 . This is a lot of work and we know that your time is valuable.  However, it is reasonable for an author to expect that the peer reviewer will take the time to perform a thoughtful and complete review, their work deserves no less.  If you are too busy and do not have adequate time, we would strongly prefer that you decline an invitation rather than accept it and not be able to give the paper the time it deserves.

What we ask our reviewers to do:

(note that the material in this section is one suggestion for an approach to reviewing)

1. Upon receipt of the invitation

Read the abstract and make the following determinations: Do you have the ability to review this paper? Are you free of conflicts? Do you have the time? If the answer to all questions are yes, please accept the invitation to review.

2. Upon receipt of the paper, first give it a complete read through, without marking it up.  Develop a feel for the topic or intent of the paper and see if it fits with the scope of the journal.  Develop some ideas about what will be the important issues on which to focus a detailed review.  Begin to form an opinion of the importance of the paper.

At this point, it may rarely happen that a reviewer feels strongly that the paper has no place in the journal.  In such a rare case, you may recommend to the editor that the paper be summarily rejected, with only brief comments to the author.  This might happen if you feel that the paper is on a topic that is inappropriate for the journal, is clearly unethical, etc.  It may be wise to consult with the Associate Editor in such cases before you submit such a review.

In most cases, you will be expected to perform a detailed review.  We ask that you read every word in the paper.  Again, it is reasonable for authors to expect that the reviewer has thoroughly read the paper. Mark it up with comments, question marks, etc., reflecting your questions and concerns.

To write a review, first write a 2 or 3 sentence summary of the paper.  This focuses the review and assists with the topicality assessment.  If you can’t do this, it indicates a problem with the paper.  It also demonstrates to the author that you understand the thrust of the paper. 

We ask that all reviewers write comments to the authors in the box labeled “Comments for the Authors”.  We need you to be critical AND positive.  Please avoid global and judgmental comments like “the authors of this paper are sloppy writers”. Instead, you should say that “The authors must correct the numerous typographical and grammatical errors throughout the paper”.  Especially in the case of foreign authors, please make comments on poor English grammar and style to the editor (not to the authors) unless it is so bad that you cannot understand what they are trying to say.  In the latter case, it is fair to say that you cannot judge the quality of the science in the paper because the paper is written in a way that you cannot understand what they are trying to describe. 

Some reviewers divide their comments into major and minor criticisms. This can be very helpful in separating issues that warrant repeat peer review, major attention by the editor, substantial rethinking by the senior author, etc. It is EXTREMELY helpful to enumerate your points in the review.  This allows the authors to respond specifically to the criticisms in a point-by-point manner and allows the editors to insure that all of your comments and criticisms have been addressed in the revision. 

Some points to consider 5

Title : Does it reflect the contents? Is it clear?

Abstract : Is it a fair summary? Is it properly organized? Is it terse and clear?

Introduction: Does it set the stage for the study? Does it repeat discussion points? Does it include the conclusion (it should not)?

Methods : Is it sufficient to allow reproduction? Are all components described or methods references given?

Case report : Is the cohort adequately described? Are research ethics appropriate? Is there a power analysis? For cases, is the patient adequately described? Are patient assessments objective data or interpretations?

If statistics are employed : Are the methods adequately described?
Are they appropriate?

Results : Are they adequately described so that the reader can understand them? Do they distinguish results from interpretations? Recall that results should be presented as figures or prose, NEVER both.

Discussion : Do the results support the conclusions? Note that this is the crux of your review and should be the primary point on which you make a recommendation to the Editor.  Are the results put into context with prior studies?

Are weaknesses and limitations discussed?

References : Are they accurate? Reasonable in number, breadth, representativeness? Are there excessive self citations?

Figures and Tables : Are the figures clear? Do they show the data in a readily comprehensible way? Are tables properly laid out? Should a table be a figure? Should a figure be a sentence in the results section?

We also need you to provide the Editor with your summary judgment. Does this paper present data that add something new to the area? Will the readership of the journal be interested? Should the paper be published? Is it a substantial work or an LPU * ? Is it statistical noise? Would you rely on the findings to make a clinical or scientific decision? Note that these judgments go to the editor NOT the authors.

We appreciate it if reviewers watch for evidence of duplicate publication. The Committee on Publication Ethics (COPE) defines redundant publication as “...when two or more papers, without full cross reference, share the same hypothesis, data, discussion points, or conclusions.” The defining characteristic of a duplicate publication is that, in addition to the above, it shares at least some of the same authors. If you detect or suspect this, please contact the associate editor to discuss the issue. 

We ask all reviewers to respond with a categorical recommendation for the disposition of the manuscript:

Accept as is (very rare on first submissions, more common on revisions)

Accept with minor revisions (the means the revision is generally handled by the associate editor, and not sent out for peer review)

Accept with major revisions (the revision is generally sent out for peer review)

Reject (Some common reasons to recommend rejection: The paper presents no new information, the data do not support the conclusion(s), the data are weak or of poor quality, severely flawed study design, misuse (or non-use) of statistics, poorly written beyond repair, improper research ethics # , potential scientific misconduct # .

The length of reviews vary. Short reviews are fine for papers that are great or terrible. You only need to justify your judgments. If you feel that the conclusion of the paper under review has already been established, please provide citations to support that claim in your review comments to the authors. Longer reviews are helpful when a manuscript needs improvements. Detailed, clear, redressable comments.

Ethics of peer review

This is a difficult area. Scientifically, the best reviewer is one who knows the topic in great detail, works in the same area, has a full command of the relevant literature, and knows who all of the researchers are. Ethically, the best reviewer is one who has no stake in the research whatsoever and who has absolutely nothing to gain or lose by the publication of the manuscript or its content

Obviously, these are contradictory notions. 

Some examples that we would consider to be a conflict of interest: 1) The reviewer is working on a very similar project or a is a direct competitor of the group whose paper is under review, 2) The reviewer has a significant personal or professional relationship with an author, 3) the author(s) is(are) a recent collaborator, colleague in your department, recent trainee or mentor, 4) The reviewer has longstanding or significant enmity to, or dispute with, an author, or 5) the reviewer has some financial relationship to the topic, the authors, or the submitting institution, such as patent holder, stockholder, your laboratory markets a test related to the paper, etc. If you feel that you may have a conflict, please contact the Editor or Associate Editor handling that manuscript to discuss the issue.  In some cases, modest conflicts can be addressed simply by the Editor being aware of the potential issue.

We ask that reviewers not use any findings, data, or conclusions of the manuscript to benefit your research in ANY way until it the paper appears to the community.  Examples of things to avoid include using information in a reviewed manuscript as heads up to accelerate submission of your work to a journal, add something to your work that you didn’t know about, change your methodology, etc.  Of course, we ask you not to discuss the contents of the manuscript with any other person, unless you gain the concurrence of an Editor or the editorial staff office to do this.  Also, please keep copies of manuscripts secure.

We also ask that you not contact an author without the express permission of the editor. Examples of contacts that we discourage are those to arrange a collaboration, to recruit an author to your institution, etc.  Such contacts may be appropriate after the paper is published, but we generally prefer that reviewers not disclose their roles as reviewers of specific manuscripts as this may engender feelings of obligation on the part of the authors. 

Do not discuss the manuscript that is under review (except in the most general terms) with anyone unless you have negotiated this with the Editor or Associate Editor. 


1. Rennie D. Editorial peer review: its development and rationale. In Godlee F and Jefferson T, eds. Peer Review in Health Sciences. 2nd edition. 2003 BMJ books pp.1-13

2. Goodman SN, Berlin J, Fletcher SW, Fletcher RH. 1994 Manuscript quality before and after peer review and editing at Annals of Internal Medicine. Ann Intern Med 121:11-21

3. Yankauer A. 1990 Who are the peer reviewers and how much do they review? JAMA 263:1338-40

4. Moher D, Jadad AR How to peer review a manuscript. In: In Godlee F and Jefferson T, eds. Peer Review in Health Sciences. 2nd edition. 2003 BMJ books pp 183-90

5. Cumming P and Rivera FP. 2002 Reviewing Manuscripts for Archives of Pediatrics & Adolescent Medicine. Pediatr Adolesc Med. 156:11-13

* LPU: Least publishable unit

# Note that these are serious issues and should be discussed with an editor before submitting the review.