Economical, legal and ethical considerations on reevaluation and retesting in molecular diagnostics

AUTORI

ABSTRACT

In the -omics era, analysis of genome and transcriptome have become extremely relevant for the elucidation of the genetic cause of a number of diseases, previously undiagnosed. In addition, microbiome analysis is becoming relevant in many pathological conditions.Identification of genetic variants is very efficient with techniques such as comparative genome hybridization (CGH)-array and with whole genome sequence (WGS) or whole exome sequence (WES) performed with next-generation sequence (NGS) methodologies. Most importantly, correct classification of variants and elucidation of their clinical significance are tasks of extreme relevance for the correct diagnosis and, often, also to indicate the most efficient therapeutic choices. However, over the years our understanding of significance of genetic variants has dramatically improved, therefore many cases would require reevaluation and, on occasions, retesting.
In this article, we reviewed the major advances in the genomic diagnostics field focusing, in particular, at addressing the relevance of periodic reevaluation of results and retesting patients when significantly novel technologies are developed, focusing also on economical, legal and ethical points.

BIBLIOGRAFIA