Genetics in Medicine (GENET MED)

Publisher: American College of Medical Genetics, Nature Publishing Group

Journal description

As a respected part of the genetics community, Genetics in Medicine is a must read for all those applying new genetic findings to their practice. Genetics in Medicine is devoted to the broad clinical application of genetics, and outstanding editorial content and uniqueness make it a necessary acquisition for all clinicians and institutional libraries. Topics covered in the journal include clinical genetics, biochemical genetics, cytogenetics, molecular genetics, common disease genetics, genetic counseling and legal updates and genetics legacies.

Current impact factor: 7.33

Impact Factor Rankings

2016 Impact Factor Available summer 2017
2014 / 2015 Impact Factor 7.329
2013 Impact Factor 6.435
2012 Impact Factor 5.56
2011 Impact Factor 4.762
2010 Impact Factor 5.28
2009 Impact Factor 3.922
2008 Impact Factor 3.716
2007 Impact Factor 3.318
2006 Impact Factor 3.427
2005 Impact Factor 3.082
2004 Impact Factor 3.805
2003 Impact Factor 3.679
2002 Impact Factor 2.645
2001 Impact Factor 1.933
2000 Impact Factor 1.128
1999 Impact Factor 3.714

Impact factor over time

Impact factor

Additional details

5-year impact 6.40
Cited half-life 4.10
Immediacy index 1.43
Eigenfactor 0.03
Article influence 2.82
Website Genetics in Medicine website
Other titles Genetics in medicine, Genetics medicine
ISSN 1098-3600
OCLC 38569047
Material type Periodical, Internet resource
Document type Journal / Magazine / Newspaper, Internet Resource

Publisher details

Nature Publishing Group

  • Pre-print
    • Author can archive a pre-print version
  • Post-print
    • Author cannot archive a post-print version
  • Restrictions
    • 6 months embargo
  • Conditions
    • Authors retain copyright
    • Published source must be acknowledged and DOI cited
    • Must link to publisher version
    • Publisher's version/PDF cannot be used
    • On author's personal website and institutional repository
    • If funding agency rules apply, authors may post authors version to their relevant funding body's archive, 6 months after publication
    • This policy is an exception to the default policies of 'Nature Publishing Group'
  • Classification

Publications in this journal

  • No preview · Article · Jan 2016 · Genetics in Medicine

  • No preview · Article · Jan 2016 · Genetics in Medicine

  • No preview · Article · Dec 2015 · Genetics in Medicine
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    ABSTRACT: Purpose: The aim of this study was to investigate the ethical issues involved in children's participation in research biobanks in Saudi Arabia and the Middle East. Methods: A survey of 160 respondents from four groups (researchers, physicians, medical students, and laypersons) was conducted at King Abdulaziz Medical City in Riyadh, Saudi Arabia. Results: A clear and positive attitude toward pediatric clinical and genetic research inside and outside of Saudi Arabia was found. Parental consent is viewed as essential, with 60% saying parental consent is sufficient for children up to 12, and 40% saying it is sufficient for children 12-18 years old. More than 90% of respondents preferred to gain approval from any child with a decision-making capability; 58.2 and 38.6% of them believed that children between 12 and 18, and >18 years of age, respectively, can understand and thus give their approval for genetic research. Clear majorities in the study agreed with re-consenting children when they become adults, allowing them to withdraw at any time. A clear majority agreed that either parent could sign a consent form for their child to participate in a research biobank. Conclusion: All four groups believed, to varying degrees, that elements of ethical consideration were critical when involving children in research.Genet Med advance online publication 10 December 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.164.
    No preview · Article · Dec 2015 · Genetics in Medicine
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    ABSTRACT: Purpose: The pace of Mendelian gene discovery is slowed by the "n-of-1 problem"-the difficulty of establishing the causality of a putatively pathogenic variant in a single person or family. Identification of an unrelated person with an overlapping phenotype and suspected pathogenic variant in the same gene can overcome this barrier, but it is often impeded by lack of a convenient or widely available way to share data on candidate variants/genes among families, clinicians, and researchers. Methods: Social networking among families, clinicians, and researchers was used to identify three children with variants of unknown significance in KDM1A and similar phenotypes. Results: De novo variants in KDM1A underlie a new syndrome characterized by developmental delay and distinctive facial features. Conclusion: Social networking is a potentially powerful strategy to discover genes for rare Mendelian conditions, particularly those with nonspecific phenotypic features. To facilitate the efforts of families to share phenotypic and genomic information with each other, clinicians, and researchers, we developed the Repository for Mendelian Genomics Family Portal (RMD-FP; Design and development of MyGene2 (, a Web-based tool that enables families, clinicians, and researchers to search for gene matches based on analysis of phenotype and exome data deposited into the RMD-FP, is under way.Genet Med advance online publication 10 December 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.161.
    No preview · Article · Dec 2015 · Genetics in Medicine
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    ABSTRACT: Purpose: The current Clinical and Laboratory Standards Institute standard recommends blood collection from 24 to 48 hours after birth for newborn genetic disorder screening. We used California population-level data to determine whether early specimens (collected from 12 to 23 hours) would also be considered satisfactory based on screening performance. Methods: Screening data from California Genetic Disease Screening Program were analyzed for false-negative and false-positive rates in four disease categories: metabolic disorders detectable by tandem mass spectrometry (MS/MS); congenital adrenal hyperplasia (CAH); congenital hypothyroidism (CH); and initial immune reactive trypsinogen (IRT) for cystic fibrosis (CF). We compared the rates between the early-collection group (12 to 23 hours) and the standard-collection group (24 to 48 hours). Results: No significant difference of false-negative rate was detected between the two collection-timing groups. Early specimens had a significantly higher false-positive rate for CH (0.10 vs. 0.01%) and IRT (1.85 vs. 1.54%) but a lower false-positive rate for MSMS metabolic disorders (0.11 vs. 0.18%) and CAH (0.10 vs. 0.14%). Conclusion: Newborn specimens collected after 12 hours provided satisfactory screening performance. A policy allowing earlier collection could improve timeliness of reporting screening results.Genet Med advance online publication 10 December 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.154.
    No preview · Article · Dec 2015 · Genetics in Medicine
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    Preview · Article · Dec 2015 · Genetics in Medicine
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    ABSTRACT: The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found insufficient evidence to recommend for or against the use of Oncotype DX testing to guide chemotherapy treatment decisions in women with hormone receptor–positive, lymph node–negative, or lymph node–positive early breast cancer who are receiving endocrine therapy. This recommendation statement updates a 2009 EGAPP statement on the use of gene expression profiling tests in breast cancer. Evidence of clinical validity for Oncotype DX was confirmed as adequate. With regard to clinical utility, although there was evidence from prospective retrospective studies that the Oncotype DX test predicts benefit from chemotherapy, and there was adequate evidence that the use of Oncotype DX gene expression profiling in clinical practice changes treatment decisions regarding chemotherapy, no direct evidence was found that the use of Oncotype DX testing leads to improved clinical outcomes. In women with early-stage invasive breast cancer, gene expression profiling is increasingly being used as an aid to estimate the likely benefit from chemotherapy treatment. In a previous recommendation statement, the EGAPP Working Group (EWG) found adequate evidence for clinical validity of some gene expression profiling tests in predicting distant disease recurrence in women with early-stage, hormone receptor–positive, lymph-node-negative breast cancer who are treated with tamoxifen, but insufficient evidence that use of these tests for decisions about chemotherapy treatment has clinical utility. The current recommendation statement updates these findings for Oncotype DX and extends them to the population of women with lymph node–positive disease, using evidence from recent systematic reviews and other sources. The previous recommendation statement found that evidence was inadequate to enable quantitative determination of the analytic validity of Oncotype DX. Analytic validity was not reconsidered in the updated recommendation statement because there remains no gold-standard test for comparison. The EWG found that new evidence published since the original evidence review supports the clinical validity of Oncotype DX in predicting risk of distant metastases in women with hormone receptor–positive, early-stage breast cancer that is either node-negative or node-positive. No direct evidence was found that use of Oncotype DX tumor gene expression profiling to guide treatment decisions improves clinical outcomes in women with early breast cancer. There is indirect evidence, from prospective retrospective studies on archived tissue samples from randomized controlled trials, that the Oncotype DX test can predict benefit from chemotherapy. Large, prospective, randomized, controlled trials currently in progress may provide evidence of clinical utility. Until definitive evidence for clinical utility is available, clinicians must decide on a case-by-case basis whether to offer the test to patients. Although Oncotype DX testing has been reported, on the basis of economic modeling studies, to be cost-effective in several different health-care systems and to save costs in the US health-care setting, studies were based on assumptions regarding the clinical utility of the test that require confirmation by clinical trial results. Genet Med advance online publication 17 December 2015
    No preview · Article · Dec 2015 · Genetics in Medicine

  • No preview · Article · Nov 2015 · Genetics in Medicine
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    ABSTRACT: Purpose: Single-nucleotide polymorphism (SNP) panel tests have been proposed for use in the detection of, and prediction of risk for, prostate cancer and as prognostic indicator in affected men. A systematic review was undertaken to address three research questions to evaluate the analytic validity, clinical validity, clinical utility, and prognostic validity of SNP-based panels. Methods: Data sources comprised MEDLINE, Cochrane CENTRAL, Cochrane Database of Systematic Reviews, and EMBASE; these were searched from inception to April 2013. The gray-literature searches included contact with manufacturers. Eligible studies included English-language studies evaluating commercially available SNP panels. Study selection and risk of bias assessment were undertaken by two independent reviewers. Results: Twenty-one studies met eligibility criteria. All focused on clinical validity and evaluated 18 individual panels with 2 to 35 SNPs. All had poor discriminative ability (overall area under receiver-operator characteristic curves, 58-74%; incremental gain resulting from inclusion of SNP data, 2.5-11%) for predicting risk of prostate cancer and/or distinguishing between aggressive and asymptomatic/latent disease. The risk of bias of the studies, as assessed by the Newcastle Ottawa Scale (NOS) and Quality Assessment of Diagnostic Accuracy Studies (QUADAS) tools, was moderate. Conclusion: The evidence on currently available SNP panels is insufficient to assess analytic validity, and at best the panels assessed would add a small and clinically unimportant improvement to factors such as age and family history in risk stratification (clinical validity). No evidence on the clinical utility of current panels is available.Genet Med advance online publication 01 October 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.125.
    No preview · Article · Oct 2015 · Genetics in Medicine

  • No preview · Article · Oct 2015 · Genetics in Medicine

  • No preview · Article · Oct 2015 · Genetics in Medicine

  • No preview · Article · Sep 2015 · Genetics in Medicine

  • No preview · Article · Sep 2015 · Genetics in Medicine