Early identification of primary atopic disorders (PAT) through early use of clinical-guided genomic sequencing

Dermatology and Venereology

Primary atopic disorders (TAP) are monogeny disorders caused by pathogenic variants of genes coding for proteins essential to maintaining a healthy skin barrier and a strong immune system.

Physicians are challenged to find unique and extremely rare TAP patients/families among the millions of individuals with common allergic diseases.

The authors describe case scenarios with characteristic TAPs. They reviewed the literature and derived specific clinical warning signs for TAP detection. These include positive family history and/or signs of pathological susceptibility to infections, immunodysregulation or syndromic disease.

The results of conventional laboratory tests and most immunological studies are not sufficient to establish a definitive diagnosis of TAP. In the past, the multi-step reduction of differential diagnoses by various immunological and other laboratory tests led to single-gene or gene panel testing, an approach that was time consuming and often unsuccessful.

The implementation of comprehensive genomic analyses in routine diagnostics has led to a paradigm shift. Early Genome Sequencing (WGS) will shorten the diagnostic time, save patients from unnecessary investigations and reduce morbidity and mortality.

The authors propose a rational, clinical-landmark approach to deciding which cases pass the filter of early whole genome analysis.

The interpretation of WGS results requires great caution regarding the causal relationship of variants in TAP phenotypes and lack of evidence through adequate functional testing. In case of negative WGS results, a repeat attitude with new data analyses (using the latest annotations from the database) may eventually lead to diagnosis of TAPs.

TAPs, like many other rare genetic diseases, will only be successfully managed if doctors from different clinical specialties and geneticists interact regularly in multidisciplinary conferences.

Source(s) :
Tim Niehues, Sandra von Hardenberg, Eunike Velleuer ;

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