Reporting framework in the testing of predisposition to common adult solid tumors using next-generation sequencing

Area of Science:

• Oncogenetics
• Medical Genetics
• Genomic Medicine

Background:

• Next-generation sequencing (NGS) in hereditary cancer predisposition testing increases diagnostic yield by analyzing numerous genes.
• Expanded genomic analysis may identify secondary findings: variants unrelated to the primary testing reason.
• These secondary findings present clinical and ethical challenges for healthcare providers.

Purpose of the Study:

• To harmonize the reporting scope of secondary findings in cancer predisposition testing.
• To establish a consensus on which genes and variants should be routinely reported.
• To provide a unified laboratory practice guideline within the Czech Republic.

Main Methods:

• An initiative involving the CZECANCA consortium and the Oncogenetics Working Group.
• Development of a consensus-based gene panel for cancer predisposition testing.
• Defined criteria for reporting secondary findings.

Main Results:

• A consensus list of genes and variants for routine reporting was established.
• Laboratories will report these findings regardless of the initial request.
• The approach aims to standardize practices in oncogenetic testing.

Conclusions:

• The harmonized approach standardizes the reporting of secondary findings in the Czech Republic.
• This guideline reflects current oncogenetics knowledge.
• The document will be updated as scientific evidence evolves.