Targeted gene panels, also known as gene-specific panels or custom panels, are a subset of genetic tests designed to analyze specific genes or regions of interest within the genome. Unlike whole genome sequencing (WGS) or whole exome sequencing (WES), targeted panels zoom in on predefined sets of genes (mostly between 2-1000 genes) relevant to particular diseases, syndromes, or conditions. Instances of this include gene panels focused on conditions like 'intellectual disability,' 'monogenic diabetes,' and 'breast cancer.' In the process of preparing patient DNA for sequencing, DNA from the genes included in the panel undergoes enrichment using either hybridization probe capture or PCR amplification techniques.
Advantages:
Gene panel sequencing is commonly employed in clinical diagnostics for rare disease identification.
It offers swifter and more cost-effective outcomes compared to sequential single gene sequencing, WES, or WGS.
Focusing on a gene panel reduces the number of variants needing interpretation, resulting in fewer variants of uncertain significance (VUS).
Targeted panel sequencing allows for deeper coverage, enhancing sensitivity in detecting mosaicism for relevant conditions.
Detection of exon-level copy number variants, single nucleotide variants, and small insertions/deletions is feasible.
Limitations:
Novel causative genes won't be identified since the panel focuses solely on known disease-associated genes.
Adding new genes to a designed panel poses technical challenges as discoveries are made.
Structural rearrangements and copy number variants won't be detected, unlike with WGS.
Thus, Gene panels are targeted to a particular disease, are customizable, cost-efficient, and have fast turn-around times for generating results, while providing deep coverage for the known variants. They are quickly becoming the gold standard in terms of NGS testing in the diagnostic practice.
-Written by Sohni Tagore
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