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Genetic testing in autoinflammatory diseases - past, current and future perspectives.
Anouk Le Goueff1, Guillaume Smits2, Mélanie Delaunoy2
1Internal Medicine Department, Hôpital Erasme, 808 route le Lennik, Brussels 1070, Belgium.
European Journal of Internal Medicine
|September 24, 2022
Summary
Expanding genetic testing panels significantly increases the diagnostic rate for autoinflammatory diseases (AID). While larger panels improve detection, they also incur higher costs, with most diagnoses still linked to hereditary recurrent fevers.
Area of Science:
- Genetics
- Immunology
- Rare Diseases
Background:
- Autoinflammatory diseases (AID) are rare monogenic disorders characterized by uncontrolled innate immune system activation.
- Recurrent systemic and localized inflammation flares are hallmarks of AID.
- Advancements in genetic sequencing have facilitated the identification of new AID entities.
Purpose of the Study:
- To evaluate the diagnostic yield of evolving genetic testing methods for AID.
- To determine if expanded gene panels improve the diagnostic rate for AID.
Main Methods:
- Retrospective analysis of 2620 patients with suspected AID in Belgium (2015-2020).
- Utilized sequential gene panel expansions: 10-gene (2015-2017), 25-gene (2018-2020), and mendeliome technology with 66/502-gene panels (2020).
Main Results:
- The diagnostic yield increased with gene panel size: 15% (10 genes), 16% (25 genes), and 23% (502 genes).
- Mendeliome technology demonstrated the highest diagnostic rate.
Conclusions:
- Larger gene panels correlate with higher diagnostic rates for AID.
- Mendeliome technology, while effective, presents increased financial and human resource costs.
- The majority of diagnosed AID cases were still attributed to the four original hereditary recurrent fevers (HRFs).
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