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Eur J Hum Genet. 2019 Jun 11. doi: 10.1038/s41431-019-0439-9. [Epub ahead of print]

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

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National Amyloidosis Centre, Division of Medicine, UCL, Royal Free Hospital, London, UK.
Laboratory of FMF, Amyloidosis and Rare Autoinflammatory Diseases, Sheba Medical Center, Tel Hashomer, Israel.
UOC Medical Genetics, Giannina Gaslini Institute, Genova, Italy.
European Molecular Genetics Quality Network (EMQN), Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, M13 9WL, UK.
Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
INSERM, Department of Medical Genetics, Rare Diseases and Personalized Medicine, University of Montpellier, CEREMAIA, CHU Montpellier, Montpellier, France.


Monogenic autoinflammatory disorders (AIDs) are rare diseases caused by variants in genes regulating the innate immune system. The identification of the first four genes responsible for the prototype group of hereditary recurrent fevers prompted the development of genetic diagnosis, followed by external quality assessment and guidelines for the interpretation of sequence variants in these diseases. Recent changes in the diagnosis of genetic diseases, namely the implementation of next-generation sequencing (NGS), lead to discovery of the new genes associated with at least 40 novel AIDs, which revolutionized patient care and prognosis. However, these rapid advances resulted in nonstandardized molecular strategies that can influence genetic diagnosis and reporting of results. In order to assess factors, which may have an impact on performance and quality of results in the NGS era, we carried out an online survey among member laboratories of the European Molecular Genetics Quality Network, which highlighted different strategies being used and identified pitfalls that deserve discussion and improvement.


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