We thank Drs Sajantila and Budowle1 for raising this interesting and important topic. They correctly point out that our Recommendations for reporting results of diagnostic genetic testing2 do not cover the special circumstances surrounding the reporting of post-mortem genetic testing. We did not consider this issue while preparing our recommendations, focusing instead on reporting of routine genetic testing (biochemical, cytogenetic and molecular genetic). Although some of our recommendations will apply to all reports of genetic testing, there may be important exceptions when post-mortem results are being reported.

The issues around post-mortem genetic testing and ‘molecular autopsy’ go far beyond the reporting of results, encompassing inter alia issues of consent, sample integrity, legal custody and retention/storage of tissues. We understand that the Professional and Public Policy Committee (PPPC) of the ESHG is currently considering these issues with a view of producing a policy statement. The Genetics Services Quality Committee fully supports this initiative and looks forward to commenting on the draft statement when available.


  1. 1.

    , : Postmortem medicolegal genetic diagnostics also require reporting guidance. Eur J Hum Genet 2014, e-pub ahead of print 3 December 2014 doi:10.1038/ejhg.2014.247.

  2. 2.

    , , et al: Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic). Eur J Hum Genet 2014; 22: 160–170.

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  1. National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady’s Children’s Hospital, Dublin, Ireland

    • David E Barton
  2. Molecular Genetics of Rare Disorders, University Hospital of Montpellier and INSERM U827, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France

    • Mireille Claustres
  3. Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic

    • Viktor Kozich
  4. Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium

    • Els Dequeker
  5. Department of Paediatrics, Universitats-Kinderspital Beider Basel (UKBB), Basel, Switzerland

    • Brian Fowler
  6. Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands

    • Jayne Y Hehir-Kwa
  7. Institute of Human Genetics, Hannover Medical School, Hannover, Germany

    • Konstantin Miller
  8. VSOP-National Patient Alliance for Rare and Genetic Disorders, Soest, The Netherlands

    • Cor Oosterwijk
  9. Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia

    • Borut Peterlin
  10. Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands

    • Conny van Ravenswaaij-Arts
  11. Division 3 Health/Forensics, Deutsche Akkreditierungsstelle GmbH (DAkkS), Frankfurt am Main, Germany

    • Uwe Zimmermann
  12. Department of Medical Genetics, University of Pavia, Pavia, Italy

    • Orsetta Zuffardi
  13. CEQAS, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK

    • Rosalind J Hastings


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The authors declare no conflict of interest.

Corresponding author

Correspondence to Rosalind J Hastings.

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