Reply to Sajantila and Budowle

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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

    Sajantila A, Budowle B : 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

    Claustres M, Kozich V, Dequeker E 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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Correspondence to Rosalind J Hastings.

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