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

被引:8
|
作者
Rowczenio, Dorota [1 ]
Shinar, Yael [2 ]
Ceccherini, Isabella [3 ]
Sheils, Katie [4 ]
Van Gijn, Marielle [5 ]
Patton, Simon J. [4 ]
Touitou, Isabelle [6 ]
机构
[1] Royal Free Hosp, Natl Amyloidosis Ctr, Div Med, UCL, London, England
[2] Sheba Med Ctr, Lab FMF Amyloidosis & Rare Autoinflammatory Dis, Tel Hashomer, Israel
[3] Giannina Gaslini Inst, UOC Med Genet, Genoa, Italy
[4] St Marys Hosp, Manchester Ctr Genom Med, European Mol Genet Qual Network EMQN, Manchester M13 9WL, Lancs, England
[5] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
[6] Univ Montpellier, CHU Montpellier, CEREMAIA, INSERM,Dept Med Genet Rare Dis & Personalized Med, Montpellier, France
关键词
MUTATIONS; DEFINE; FAMILY;
D O I
10.1038/s41431-019-0439-9
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:1502 / 1508
页数:7
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