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Biomedical Sciences - Human Genetics | Journal of Genetic Counseling

Journal of Genetic Counseling

Journal of Genetic Counseling

Editor-in-Chief: Bonnie S. LeRoy

ISSN: 1059-7700 (print version)
ISSN: 1573-3599 (electronic version)

Journal no. 10897

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Instructions for Authors

Manuscript Submission 

The Journal of Genetic Counseling uses a fully web-enabled online manuscript submission and review system. To keep the review time as short as possible, we request authors to submit manuscripts online to the journal's editorial office. Our online manuscript submission and review system offers authors the option to track the progress of the review process of manuscripts in real time.
Manuscripts should be submitted to: http://jogc.edmgr.com
The online manuscript submission and review system for the Journal of Genetic Counseling offers easy and straightforward log-in and submission procedures. This system supports a wide range of submission file formats:
for manuscripts — Word, WordPerfect, RTF, TXT and LaTex; for figures — TIFF, GIF, JPEG, EPS, PPT, and Postscript. PDF is not an acceptable file format.
After a manuscript has been accepted for publication and after all revisions have been incorporated, a final manuscript should be submitted through the online submission system. The electronic file submitted must be the finalized version of the manuscript. The author may track the status of a submission via the online submission system at any time.
NOTE: If you encounter any difficulties while submitting your manuscript online, please contact the Editor-in-Chief, Bonnie LeRoy, via e-mail at: leroy001@umn.edu

General 

Manuscripts should be checked for content and style (American English spelling, punctuation, and grammar; accuracy and consistency in the citation of figures, tables, and references; stylistic uniformity of entries in the References section; etc.)
Comments section: Authors should detail in the comments section of the submission that the manuscript is submitted solely to this journal and was not published elsewhere, and disclose details of any previous or anticipated publication history related to the manuscript's content. Submission is a representation that the manuscript has not been published previously and is not currently under consideration for publication elsewhere.

Manuscript Preparation 

1. Type double-spaced and include all illustrations and tables. Original reseach articles should be no longer than 25 double-spaced typed pages and qualitative research no longer than 40 double-spaced typed pages.
2. Title page: A title page is to be provided and should include the title of the article, authors name (no degrees), authors affiliation, and suggested running head. The affiliation should comprise the department, institution (usually university or company), city, and state (or nation) and should be typed as a numbered footnote to the author’s name. The suggested running head should be less than 80 characters (including spaces) and should comprise the article title or an abbreviated version thereof. The title page should also include the complete mailing address, telephone number, fax number, and e-mail address of the one author designated to review proofs.
3. Abstract: An unstructured abstract is to be provided, approximately 200 words
4. Key words: A list of 3-10 key words is to be provided directly below the abstract. Key words should express the precise content of the manuscript, as they are used for indexing purposes.
5. Section headings: All major sections should carry section headings (such as Introduction, Methods, Results, Discussion, Conclusions, etc.) type centered. Side headings in Methods section should include, as appropriate: Participants, Instrumentation, Procedures, and Data Analysis. Side headings in Discussion should include: Study Limitations, Practice Implications, and Research Recommendations. All Acknowledgements (including those for grant and financial support) should be typed in one paragraph (so-headed) on a separate page that directly precedes the References section.
6. Reference list: The journal follows the reference and citation style recommendations of the Publication Manual of the American Psychological Association (APA style). See also: http://apastyle.apa.org/
List references alphabetically at the end of the paper. References should include (in this order): last name and initials of authors, year published, title of article, name of publication, volume number, and inclusive pages. Where there are seven or more authors, abbreviate the seventh and subsequent authors as et al.
Refer to the references in the text by name and year in parentheses. Multiple citations should be listed alphabetically by author’s last name.
7. Illustrations: Illustrations (photographs, drawings, diagrams, and charts) are to be numbered in one consecutive series of Arabic numerals. The captions for illustrations should be provided. Photographs and drawings should show high contrast. Electronic should be in TIFF or EPS format (1200 dpi for line and 300 dpi for half-tones and gray-scale art). Color art should be in the CMYK color space. A hard copy of photographs or illustrations may be requested prior to publication.
8. Tables: Tables should be numbered (with Roman numerals) and referred to by number in the text. Each table should be on a separate sheet of paper at the end of the submission. Center the title above the table, and type explanatory footnotes (indicated by superscript lowercase letters) below the table.
9. Footnotes: Footnotes should be avoided. When their use is absolutely necessary, footnotes should be numbered consecutively using Arabic numerals and should be typed at the bottom of the page to which they refer. Place a line above the footnote, so it is set off from the text. Use the appropriate superscript numeral for citation in the text.
10. Pedigrees: Pedigrees should follow the recommendations for standardized nomenclature accepted by the National Society of Genetic Counselors. Authors should consult the following references for these recommendations:
Bennett, R. L. , Steinhaus, K. A., Uhrich, S. B., O’ Sullivan, C. K., Resta, R. G. , Lochner-Doyle, D., Markel, D. S., Vincent, V., & Hamanishi, J. (1995). Recommendations for Standardized Human Pedigree Nomenclature. Journal of Genetic Counseling, 4, 267-279.
Bennett, R. L., Steinhaus French, K., Resta, R. G., & Lochner Doyle, D. (2008). Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 17, 424-433.
11. Conflict of Interest: Conflict of interest statements should be present on every manuscript before the References section. The statement
should mention each author separately by name. Recommended wording is as follows:
Author X declares that he has no conflict of interest.
Author Y has received research grants from Drug Company A.
Author Z has received a speaker honorarium from Drug Company B and owns stock in Drug Company C.
If multiple authors declare no conflict, this can be done in one sentence:
Author X, Author Y and Author Z declare that they have no conflict of interest.
12. Human Studies and Informed Consent: For studies with human subjects, please include the following statement before the References section:
'All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.'
If any identifying information about patients is included in the article, the following sentence should also be included:
'Additional informed consent was obtained from all patients for which identifying information is included in this article.'
13. Animal Studies: For studies with animals, include the following sentence in the manuscript before the References section:
'All institutional and national guidelines for the care and use of laboratory animals were followed.'
If the authors did not carry out animal studies as part of their article they must include the following statement in the manuscript before the References section:
'No animal studies were carried out by the authors for this article'
The editors reserve the right to reject manuscripts that do not comply with the above-mentioned requirements. The author will be held responsible for false statements or failure to fulfill the above-mentioned requirements.

Publication  

Note: Authors bear full responsibility for the accuracy of the content of their manuscript.
Page proofs: Page proofs (of accepted manuscripts) are sent directly to the designated author by e-mail attachment for proofreading and checking. Typographical errors are corrected; author alterations are generally not allowed.
Copyright: Authors will receive an electronic notification to transfer copyright of the article to the National Society of Genetic Counselors, Inc. This will ensure the widest possible protection and dissemination of information under copyright laws. Open Choice articles do not require transfer of copyright as the copyright remains with the author. In opting for open access, they agree to the Springer Open Choice License.
Page Charges: The journal makes no page charges. Reprints are available to authors, and order forms with the current price schedule are sent with proofs.
Springer Open Choice: In addition to the normal publication process (whereby an article is submitted to the journal and access to that article is granted to customers who have purchased a subscription), Springer now provides an alternative publishing option: Springer Open Choice. A Springer Open Choice article receives all the benefits of a regular subscription−based article, but in addition is made available publicly through Springers online platform SpringerLink. To publish via Springer Open Choice, upon acceptance please visit the link below to complete the relevant order form and provide the required payment information. Payment must be received in full before publication or articles will publish as regular subscription−model articles. We regret that Springer Open Choice cannot be ordered for published articles.

English Language Editing 

For editors and reviewers to accurately assess the work presented in your manuscript you need to ensure the English language is of sufficient quality to be understood. If you need help with writing in English you should consider:
  • Asking a colleague who is a native English speaker to review your manuscript for clarity.
  • Visiting the English language tutorial which covers the common mistakes when writing in English.
  • Using a professional language editing service where editors will improve the English to ensure that your meaning is clear and identify problems that require your review. Two such services are provided by our affiliates Nature Research Editing Service and American Journal Experts. Springer authors are entitled to a 10% discount on their first submission to either of these services, simply follow the links below.
Please note that the use of a language editing service is not a requirement for publication in this journal and does not imply or guarantee that the article will be selected for peer review or accepted.
If your manuscript is accepted it will be checked by our copyeditors for spelling and formal style before publication.

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为便于编辑和评审专家准确评估您稿件中陈述的研究工作,您需要确保您的英语语言质量足以令人理解。如果您需要英文写作方面的帮助,您可以考虑:
● 请一位以英语为母语的同事审核您的稿件是否表意清晰。
● 查看一些有关英语写作中常见语言错误的教程。
● 使用专业语言编辑服务,编辑人员会对英语进行润色,以确保您的意思表达清晰,并识别需要您复核的问题。我们的附属机构 Nature Research Editing Service 和合作伙伴 American Journal Experts 即可提供此类服务。
请注意,使用语言编辑服务并非在期刊上发表文章的必要条件,同时也并不意味或保证文章将被选中进行同行评议或被接受。
如果您的稿件被接受,在发表之前,我们的文字编辑会检查您的文稿拼写是否规范以及文体是否正式。

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・英語を母国語とする同僚に、原稿で使用されている英語が明確であるかをチェックしてもらう。
・英語で執筆する際のよくある間違いに関する英語のチュートリアルを参照する。
・プロの英文校正サービスを利用する。校正者が原稿の意味を明確にしたり、問題点を指摘し、英語の質を向上させます。Nature Research Editing Service とAmerican Journal Experts の2つは弊社と提携しているサービスです。Springer の著者は、いずれのサービスも初めて利用する際には10%の割引を受けることができます。以下のリンクを参照ください。
英文校正サービスの利用は、投稿先のジャーナルに掲載されるための条件ではないこと、また論文審査や受理を保証するものではないことに留意してください。
原稿が受理されると、出版前に弊社のコピーエディターがスペルと体裁のチェックを行います。

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• 귀하의 원고의 표현을 명확히 해줄 영어 원어민 동료를 찾아서 리뷰를 의뢰합니다.
• 영어 튜토리얼 페이지에 방문하여 영어로 글을 쓸 때 자주하는 실수들을 확인합니다.
• 리뷰에 대비하여, 원고의 의미를 명확하게 해주고 리뷰에서 요구하는 문제점들을 식별해서 영문 수준을 향상시켜주는 전문 영문 교정 서비스를 이용합니다. Nature Research Editing Service와 American Journal Experts에서 저희와 협약을 통해 서비스를 제공하고 있습니다. Springer 저자들이 본 교정 서비스를 첫 논문 투고를 위해 사용하시는 경우 10%의 할인이 적용되며, 아래의 링크를 통하여 확인이 가능합니다.
영문 교정 서비스는 게재를 위한 요구사항은 아니며, 해당 서비스의 이용이 피어 리뷰에 논문이 선택되거나 게재가 수락되는 것을 의미하거나 보장하지 않습니다.
원고가 수락될 경우, 출판 전 저희측 편집자에 의해 원고의 철자 및 문체를 검수하는 과정을 거치게 됩니다.

Electronic Supplementary Material 

Springer accepts electronic multimedia files (animations, movies, audio, etc.) and other supplementary files to be published online along with an article or a book chapter. This feature can add dimension to the author's article, as certain information cannot be printed or is more convenient in electronic form.
Before submitting research datasets as electronic supplementary material, authors should read the journal’s Research data policy. We encourage research data to be archived in data repositories wherever possible.

Submission

  • Supply all supplementary material in standard file formats.
  • Please include in each file the following information: article title, journal name, author names; affiliation and e-mail address of the corresponding author.
  • To accommodate user downloads, please keep in mind that larger-sized files may require very long download times and that some users may experience other problems during downloading.

Audio, Video, and Animations

  • Aspect ratio: 16:9 or 4:3
  • Maximum file size: 25 GB
  • Minimum video duration: 1 sec
  • Supported file formats: avi, wmv, mp4, mov, m2p, mp2, mpg, mpeg, flv, mxf, mts, m4v, 3gp

Text and Presentations

  • Submit your material in PDF format; .doc or .ppt files are not suitable for long-term viability.
  • A collection of figures may also be combined in a PDF file.

Spreadsheets

  • Spreadsheets should be submitted as .csv or .xlsx files (MS Excel).

Specialized Formats

  • Specialized format such as .pdb (chemical), .wrl (VRML), .nb (Mathematica notebook), and .tex can also be supplied.

Collecting Multiple Files

  • It is possible to collect multiple files in a .zip or .gz file.

Numbering

  • If supplying any supplementary material, the text must make specific mention of the material as a citation, similar to that of figures and tables.
  • Refer to the supplementary files as “Online Resource”, e.g., "... as shown in the animation (Online Resource 3)", “... additional data are given in Online Resource 4”.
  • Name the files consecutively, e.g. “ESM_3.mpg”, “ESM_4.pdf”.

Captions

  • For each supplementary material, please supply a concise caption describing the content of the file.

Processing of supplementary files

  • Electronic supplementary material will be published as received from the author without any conversion, editing, or reformatting.

Accessibility

In order to give people of all abilities and disabilities access to the content of your supplementary files, please make sure that
  • The manuscript contains a descriptive caption for each supplementary material
  • Video files do not contain anything that flashes more than three times per second (so that users prone to seizures caused by such effects are not put at risk)

Research Data Policy 

The journal encourages authors, where possible and applicable, to deposit data that support the findings of their research in a public repository. Authors and editors who do not have a preferred repository should consult Springer Nature’s list of repositories and research data policy.
General repositories - for all types of research data - such as figshare and Dryad may also be used.
Datasets that are assigned digital object identifiers (DOIs) by a data repository may be cited in the reference list. Data citations should include the minimum information recommended by DataCite: authors, title, publisher (repository name), identifier.
Springer Nature provides a research data policy support service for authors and editors, which can be contacted at researchdata@springernature.com.
This service provides advice on research data policy compliance and on finding research data repositories. It is independent of journal, book and conference proceedings editorial offices and does not advise on specific manuscripts.

Ethical Responsibilities of Authors 

This journal is committed to upholding the integrity of the scientific record. As a member of the Committee on Publication Ethics (COPE) the journal will follow the COPE guidelines on how to deal with potential acts of misconduct.
Authors should refrain from misrepresenting research results which could damage the trust in the journal, the professionalism of scientific authorship, and ultimately the entire scientific endeavour. Maintaining integrity of the research and its presentation can be achieved by following the rules of good scientific practice, which include:
  • The manuscript has not been submitted to more than one journal for simultaneous consideration.
  • The manuscript has not been published previously (partly or in full), unless the new work concerns an expansion of previous work (please provide transparency on the re-use of material to avoid the hint of text-recycling (“self-plagiarism”)).
  • A single study is not split up into several parts to increase the quantity of submissions and submitted to various journals or to one journal over time (e.g. “salami-publishing”).
  • No data have been fabricated or manipulated (including images) to support your conclusions
  • No data, text, or theories by others are presented as if they were the author’s own (“plagiarism”). Proper acknowledgements to other works must be given (this includes material that is closely copied (near verbatim), summarized and/or paraphrased), quotation marks are used for verbatim copying of material, and permissions are secured for material that is copyrighted.
    Important note: the journal may use software to screen for plagiarism.
  • Consent to submit has been received explicitly from all co-authors, as well as from the responsible authorities - tacitly or explicitly - at the institute/organization where the work has been carried out, before the work is submitted.
  • Authors whose names appear on the submission have contributed sufficiently to the scientific work and therefore share collective responsibility and accountability for the results.
  • Authors are strongly advised to ensure the correct author group, corresponding author, and order of authors at submission. Changes of authorship or in the order of authors are not accepted after acceptance of a manuscript.
  • Adding and/or deleting authors at revision stage may be justifiably warranted. A letter must accompany the revised manuscript to explain the role of the added and/or deleted author(s). Further documentation may be required to support your request.
  • Requests for addition or removal of authors as a result of authorship disputes after acceptance are honored after formal notification by the institute or independent body and/or when there is agreement between all authors.
  • Upon request authors should be prepared to send relevant documentation or data in order to verify the validity of the results. This could be in the form of raw data, samples, records, etc. Sensitive information in the form of confidential proprietary data is excluded.
If there is a suspicion of misconduct, the journal will carry out an investigation following the COPE guidelines. If, after investigation, the allegation seems to raise valid concerns, the accused author will be contacted and given an opportunity to address the issue. If misconduct has been established beyond reasonable doubt, this may result in the Editor-in-Chief’s implementation of the following measures, including, but not limited to:
  • If the article is still under consideration, it may be rejected and returned to the author.
  • If the article has already been published online, depending on the nature and severity of the infraction, either an erratum will be placed with the article or in severe cases complete retraction of the article will occur. The reason must be given in the published erratum or retraction note. Please note that retraction means that the paper is maintained on the platform, watermarked "retracted" and explanation for the retraction is provided in a note linked to the watermarked article.
  • The author’s institution may be informed.

Compliance with Ethical Standards 

To ensure objectivity and transparency in research and to ensure that accepted principles of ethical and professional conduct have been followed, authors should include information regarding sources of funding, potential conflicts of interest (financial or non-financial), informed consent if the research involved human participants, and a statement on welfare of animals if the research involved animals.
Authors should include the following statements (if applicable) in a separate section entitled “Compliance with Ethical Standards” when submitting a paper:
  • Disclosure of potential conflicts of interest
  • Research involving Human Participants and/or Animals
  • Informed consent
Please note that standards could vary slightly per journal dependent on their peer review policies (i.e. single or double blind peer review) as well as per journal subject discipline. Before submitting your article check the instructions following this section carefully.
The corresponding author should be prepared to collect documentation of compliance with ethical standards and send if requested during peer review or after publication.
The Editors reserve the right to reject manuscripts that do not comply with the above-mentioned guidelines. The author will be held responsible for false statements or failure to fulfill the above-mentioned guidelines.

Disclosure of potential conflicts of interest 

Authors must disclose all relationships or interests that could have direct or potential influence or impart bias on the work. Although an author may not feel there is any conflict, disclosure of relationships and interests provides a more complete and transparent process, leading to an accurate and objective assessment of the work. Awareness of a real or perceived conflicts of interest is a perspective to which the readers are entitled. This is not meant to imply that a financial relationship with an organization that sponsored the research or compensation received for consultancy work is inappropriate. Examples of potential conflicts of interests that are directly or indirectly related to the research may include but are not limited to the following:
  • Research grants from funding agencies (please give the research funder and the grant number)
  • Honoraria for speaking at symposia
  • Financial support for attending symposia
  • Financial support for educational programs
  • Employment or consultation
  • Support from a project sponsor
  • Position on advisory board or board of directors or other type of management relationships
  • Multiple affiliations
  • Financial relationships, for example equity ownership or investment interest
  • Intellectual property rights (e.g. patents, copyrights and royalties from such rights)
  • Holdings of spouse and/or children that may have financial interest in the work
In addition, interests that go beyond financial interests and compensation (non-financial interests) that may be important to readers should be disclosed. These may include but are not limited to personal relationships or competing interests directly or indirectly tied to this research, or professional interests or personal beliefs that may influence your research.
The corresponding author collects the conflict of interest disclosure forms from all authors. In author collaborations where formal agreements for representation allow it, it is sufficient for the corresponding author to sign the disclosure form on behalf of all authors. Examples of forms can be found
The corresponding author will include a summary statement in the text of the manuscript in a separate section before the reference list, that reflects what is recorded in the potential conflict of interest disclosure form(s).
See below examples of disclosures:
Funding: This study was funded by X (grant number X).
Conflict of Interest: Author A has received research grants from Company A. Author B has received a speaker honorarium from Company X and owns stock in Company Y. Author C is a member of committee Z.
If no conflict exists, the authors should state:
Conflict of Interest: The authors declare that they have no conflict of interest.

Research involving human participants and/or animals 

1) Statement of human rights

When reporting studies that involve human participants, authors should include a statement that the studies have been approved by the appropriate institutional and/or national research ethics committee and have been performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.
If doubt exists whether the research was conducted in accordance with the 1964 Helsinki Declaration or comparable standards, the authors must explain the reasons for their approach, and demonstrate that the independent ethics committee or institutional review board explicitly approved the doubtful aspects of the study.
The following statements should be included in the text before the References section:
Ethical approval: “All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.”
For retrospective studies, please add the following sentence:
“For this type of study formal consent is not required.”

2) Statement on the welfare of animals

The welfare of animals used for research must be respected. When reporting experiments on animals, authors should indicate whether the international, national, and/or institutional guidelines for the care and use of animals have been followed, and that the studies have been approved by a research ethics committee at the institution or practice at which the studies were conducted (where such a committee exists).
For studies with animals, the following statement should be included in the text before the References section:
Ethical approval: “All applicable international, national, and/or institutional guidelines for the care and use of animals were followed.”
If applicable (where such a committee exists): “All procedures performed in studies involving animals were in accordance with the ethical standards of the institution or practice at which the studies were conducted.”
If articles do not contain studies with human participants or animals by any of the authors, please select one of the following statements:
“This article does not contain any studies with human participants performed by any of the authors.”
“This article does not contain any studies with animals performed by any of the authors.”
“This article does not contain any studies with human participants or animals performed by any of the authors.”

Informed consent 

All individuals have individual rights that are not to be infringed. Individual participants in studies have, for example, the right to decide what happens to the (identifiable) personal data gathered, to what they have said during a study or an interview, as well as to any photograph that was taken. Hence it is important that all participants gave their informed consent in writing prior to inclusion in the study. Identifying details (names, dates of birth, identity numbers and other information) of the participants that were studied should not be published in written descriptions, photographs, and genetic profiles unless the information is essential for scientific purposes and the participant (or parent or guardian if the participant is incapable) gave written informed consent for publication. Complete anonymity is difficult to achieve in some cases, and informed consent should be obtained if there is any doubt. For example, masking the eye region in photographs of participants is inadequate protection of anonymity. If identifying characteristics are altered to protect anonymity, such as in genetic profiles, authors should provide assurance that alterations do not distort scientific meaning.
The following statement should be included:
Informed consent: “Informed consent was obtained from all individual participants included in the study.”
If identifying information about participants is available in the article, the following statement should be included:
“Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.”

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    The Journal of Genetic Counseling, published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technical developments and the concerns of individuals at genetic risk. The publication provides genetic counselors, medical social workers, medical and laboratory geneticists, and other health educators with a premier resource.
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    It is the policy of Springer to own the copyright of all contributions it publishes. To comply with U.S. Copyright Law, authors are required to sign a copyright transfer form before publication. This form returns to authors and their employers full rights to reuse their material for their own purposes. Authors will be sent a copyright transfer form upon acceptance of their manuscript.

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