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Practice Guideline
. 2014 Feb;22(2):160-70.
doi: 10.1038/ejhg.2013.125. Epub 2013 Aug 14.

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

Mireille Claustres  1 , Viktor Kožich  2 , Els Dequeker  3 , Brain Fowler  4 , Jayne Y Hehir-Kwa  5 , Konstantin Miller  6 , Cor Oosterwijk  7 , Borut Peterlin  8 , Conny van Ravenswaaij-Arts  9 , Uwe Zimmermann  10 , Orsetta Zuffardi  11 , Ros J Hastings  12 , David E Barton  13 ; European Society of Human Genetics
Affiliations
Practice Guideline

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

Mireille Claustres et al. Eur J Hum Genet. 2014 Feb.

Abstract

Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

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Comment in

  • Postmortem medicolegal genetic diagnostics also require reporting guidance.
    Sajantila A, Budowle B. Sajantila A, et al. Eur J Hum Genet. 2016 Mar;24(3):329-30. doi: 10.1038/ejhg.2014.247. Epub 2014 Dec 3. Eur J Hum Genet. 2016. PMID: 25469540 Free PMC article. No abstract available.
  • Reply to Sajantila and Budowle.
    Barton DE, Claustres M, Kozich V, Dequeker E, Fowler B, Hehir-Kwa JY, Miller K, Oosterwijk C, Peterlin B, van Ravenswaaij-Arts C, Zimmermann U, Zuffardi O, Hastings RJ. Barton DE, et al. Eur J Hum Genet. 2016 Mar;24(3):330. doi: 10.1038/ejhg.2014.290. Epub 2015 Jan 14. Eur J Hum Genet. 2016. PMID: 25585701 Free PMC article. No abstract available.

References

    1. Organisation for Economic Cooperation and Development OECD Guidelines for Quality Assurance in Molecular Genetic Testing2007. Available at http://www.oecd.org/sti/biotech/oecdguidelinesforqualityassurancein gene... .
    1. Best practice guidelines on reporting in molecular genetic diagnostic laboratories in Switzerland http://www.sgmg.ch/user_files/images/SGMG_Reporting_Guidelines.pdf .
    1. Clinical Molecular Genetics Society Best Practice Guidelines for Reporting Molecular Genetics results http://www.cmgs.org/BPGs/Reporting%20guidelines%20Sept%202011%20APPROVED... .
    1. ACC Professional Guidelines for Clinical Cytogenetics General Best Practice v1.042007. Available at http://www.cytogenetics.org.uk/prof_standards/acc_general_bp_mar2007 _1.... .
    1. Berwouts S, Morris M, Dequeker E. Approaches to quality management and accreditation in a genetic testing laboratory. Eur J Hum Genet. 2010;18:S1–S19. - PMC - PubMed

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