Periodic fever syndromes (PFSs) are a wide group of autoinammatory diseases. Due to some clinical overlap between different
PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most
PFSs, and near half of patients may remain without a genetic diagnosis even aer performing multiple-gene analyses. Molecular
analysis of periodic fevers’ causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing
the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis
of PFSs. e aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of
PFS diagnosis. e mayor expectation in the near future will be addressed to the so-called next generation sequencing approach.
Although the application of bioinformatics to high-throughput genetic analysis could allow the identication of complex genotypes,
the complexity of this denition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the
best from this new development a rule should always be kept well in mind: use genetics only to answer specic clinical questions.
