Please read the formatting guidelines before submission. Abstracts that are incorrectly formatted may be returned prior to review.
Contact Information
- Your name, degree, institution, address, phone number, and email address must be provided. As the corresponding author, you will receive all future correspondence from ACMG.
- The submitting author should be the first author (presenter) of the abstract, unless otherwise noted during submission.
Co-Authors
- Names of co-authors and institutions must be provided. Changes will not be made to the spelling of authors’ names after the submission deadline; please proof your co-authors’ names carefully.
Copyright Policy
- All authors must assign copyright of the abstract to ACMG, unless one of the authors is a U.S. Federal employee (in such case, ACMG does not hold copyright).
Abstract Title
- The abstract title should be brief and clearly indicate the nature of the abstract. You may use up to 20 words.
- The abstract title must be in title case. Capitalize all nouns, pronouns, adjectives, verbs, adverbs, and subordinate conjunctions (i.e., as, because, although). Except for the first word of the title, lowercase all articles, coordinate conjunctions (i.e., and, or, nor), and prepositions, regardless of length. Also, lowercase “to” when used as an infinitive. See examples here.
- Additionally, keep letters lowercase if the lowercase letters have a specific meaning, such as aCGH.
- Do not put a period at the end of the title.
- For example: Cancer Genetics: Translation of New Concepts to Clinical Care
Use of Product Names
- Non-proprietary (generic/scientific) names should be used and should be lowercase.
- If necessary, you may include a proprietary name in parentheses directly following the generic name after its first mention in the body of the abstract; the first letter of the name of a proprietary drug should be capitalized. ACMG reserves the right to replace proprietary names with generic names to adhere to this policy.
Abbreviations
- Use standard abbreviations. Place abbreviations in parentheses immediately after the first mention of a term or phrase; the abbreviation can then be used throughout the abstract.
Terminology
Please refer to Terminology in the Genetics in Medicine instructions to authors for detailed information.
ACMG has preferred terminology that must be followed. Additionally, we require all sequence variants follow HGVS nomenclature and those variants are classified as per the ACMG/AMP Guidelines.
Terminology Check
Whole genome sequencing or whole-exome sequencing
- The preferred terminology is Genome sequencing (GS) or Exome sequencing (ES)
NonInvasive/NIPS/NIPT
We note the use of the terminology "noninvasive prenatal screening" and/or its acronym. In
accordance with the ACMG, please use the term "prenatal cell-free DNA screening" or prenatal
screening by cell free DNA to describe this screening test. The term "cell-free DNA" can be
abbreviated as cfDNA; no other abbreviated forms of this term are permitted. When using the term
"cell-free DNA" to describe its application in settings other than prenatal (such as in oncology),
after being defined in the manuscript as cell-free DNA, the abbreviation cfDNA should be used.
Incidental
- Incidental findings when results are not being intentionally sought though they may be anticipated (known to be potentially associated with the test) or unanticipated (not typically associated)
- Secondary findings when results are actively sought but not the primary reason for testing
Mutation and Carrier
GIM has preferred usage for certain terms
(https://www.gimjournal.org/content/authorinfo#terminology). We ask you to check your article to
ensure those terms are used correctly. In particular, please note the following preferred
terminology:
Mutation
- variant instead of mutation
- pathogenic variant to denote a disease-causing variant
(Use of frameshift mutation, mutational, mutation hotspot, mutation rate is permitted)
Carrier
- heterozygote (rather than carrier) when referring to a person's genotype/genetic test result. Explanation: The usage is intended to deal with the issue that "heterozygote" describes the presence of a variant, regardless of classification, but "carrier" typically implies that the variant is disease-causing. Preferred terminology is “heterozygous for a pathogenic variant”. Carrier status, Carrier frequency, Carrier testing, Carrier result, and carrier screening are all permissible.
Caucasian, etc.
We note the use of the term “Caucasian” to describe one of the studied populations. For race,
ethnicity, and genetic ancestry terms, GIM Open follows the "Updated Guidance on the Reporting
of Race and Ethnicity in Medical and Science Journals published in JAMA"
(https://jamanetwork.com/journals/jama/fullarticle/2783090) and the copy editing guidelines in the
AMA Style Guide (https://doi.org/10.1093/jama/9780190246556.003.0011). Specifically, we do not
allow the use of the term "Caucasian" unless it refers to people from the Caucasus region.
VUSs
Please use the acronym VUS (not VUSs) as VUS can be plural or singular (variants of uncertain
significance or variant of uncertain significance)
Unknown vs Uncertain
Use the term "variant(s) of uncertain significance" instead of "variant(s) of unknown
significance”
Subject
- When referring to persons included in research studies, “participant” is preferred. A research “participant”(preferred to subject; see below) is a person who undergoes an intervention as part of a scientific investigation. A “patient” is a person under medical care and “patient” is not expected to be widely used in GIM articles; rather “participant” or “person” are generally preferred. “Subject” (as in study/research subject) is impersonal, perhaps derogatory, suggesting a subservient role and should not be used.
Primacy
- Claims of primacy and novelty are discouraged, e.g., for the first time.
Electronic Signature
Completion of all required information in the online abstract submission system serves as an agreement. It certifies the ACMG abstract submitter's understanding of the rules for participation contained in the online abstract submission program and affirms that:
- All authors approve of submitting this work for presentation and publication;
- The author(s) transfer(s) all copyright ownership of the named abstract to the American College of Medical Genetics and Genomics (except when one or more authors are U.S. Government employees);
- Submitter is acting on behalf of authors and has read the ACMG Conflict-of-Interest Policy and has acted in accordance with that policy;
- The author(s) agree(s) to materially confine the presentation to information in the abstract, if accepted for presentation. If an author has more than one abstract accepted, each presentation will be materially confined to the information in the abstract selected for the specific session;
- The presenting author will be available to present the abstract if selected for the program. The author(s) will immediately notify ACMG if the first author is not the presenting author. Presenting author will be required to complete presenter documents including financial disclosure.
Contact Information
Send related correspondence and questions regarding abstract submissions or notifications to Education@ACMG.net.
ACMG Annual Meeting Registration and Housing acmgmeeting.net
- Please note that submitting an abstract does not register you for the ACMG Annual Meeting.
- Platform moderators, co-moderators, and presenters are not eligible to receive entitlements.
To register, you must complete and return an Attendee Registration Form or register online through the ACMG Meeting website.
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