Repeat analysis of sequencing data
Hereditary diseases often affect multiple organ systems and are associated with a range of physical features, including so-called minor developmental anomalies.
The combination of these manifestations forms the clinical phenotype of the disease. It is well known that in a number of genetic syndromes, the clinical picture develops gradually, a process referred to as phenotypic evolution.
As a result, diagnosis may be delayed even when modern genomic technologies such as chromosomal microarray analysis and next-generation sequencing are used.
The appearance of new clinical symptoms may provide an opportunity to review previously obtained genetic data and refine the diagnosis.
Such reanalysis requires a detailed and accurate description of newly observed clinical manifestations. Repeat bioinformatic interpretation of sequencing data may also be recommended even when there are no obvious changes in the clinical presentation. The rapid development of genetics leads to continuous updates of genetic databases and accumulation of information regarding the pathogenicity of genetic variants, making it possible to reassess previously uncertain genomic findings.
Based on the results of the reanalysis, consultation with a clinical geneticist is recommended.