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EMQN paper on Autoinflammatory Diseases

8 months ago

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


Monogenic autoinammatory disorders (AIDs) are rare diseases caused by variants in genes regulating the innate immune system. The identication of the rst four genes responsible for the prototype group of hereditary recurrent fevers prompted the development of genetic diagno sis, 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 inuence 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 identied pitfalls that deserve discussion and improvement.
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