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Document Type |
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Article In Journal |
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Document Title |
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Postmortem medicolegal genetic diagnostics also require reporting guidance Postmortem medicolegal genetic diagnostics also require reporting guidance |
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Document Language |
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English |
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Abstract |
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The recommendations by the working group (WG) of the Genetic
Services Quality Committee of the European Society of Human
Genetics (ESHG) for reporting results of diagnostic genetic testing
(biochemical, cytogenetic and molecular genetic) published by
Claustres et al1 in the European Journal of Human Genetics are
welcomed and definitely needed. The WG focused on clinical patients,
but did not address reporting of genetic testing in deceased individuals,
especially for those who have been subjected to a medicolegal
autopsy. In the realm of medicolegal autopsy practice, samples are
collected routinely for human identification purposes. However,
beyond identity testing, there are cases where genetic diagnostics are
being performed to establish the underlying or contributing causes
(and manners) of death. Although conceptually still somewhat in its
infancy, ‘molecular autopsy’ employs genetic markers and predictive
power of risk to assist in cause and manner of death investigations.2
The situations often considered include genetic testing in negative
autopsies, that is, sudden unexpected deaths, that have no findings
in standard autopsies and cases with unusual toxicology results
(pharmacogenetic analyses).3,4 At the same time, national legislations
for reporting of genetic tests postmortem are diverse or nonexistent
and, although some local practice guidelines have been established,5
international recommendations concerning medicolegal and forensic
postmortem genetic diagnostics are lacking. |
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ISSN |
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1018-4813 |
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Journal Name |
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European journal of human genetics: EJHG |
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Volume |
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24 |
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Issue Number |
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3 |
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Publishing Year |
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1437 AH
2016 AD |
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Article Type |
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Article |
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Added Date |
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Monday, July 10, 2017 |
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Researchers
| Antti Sajantila | Sajantila, Antti | Investigator | Doctorate | |
| Bruce Budowle | Budowle, Bruce | Researcher | Doctorate | |
|