Genetic testing today.

Area of Science:

• Genetics
• Oncology
• Molecular Diagnostics

Background:

• Next-generation sequencing (NGS) enables comprehensive panel testing for breast cancer predisposition genes.
• Clinicians face challenges advising patients with mutations in rare breast cancer genes identified by these panels.

Purpose of the Study:

• To evaluate the utility and challenges of NGS-based panel testing for inherited breast cancer predisposition.
• To discuss the interpretation of genetic variants and risk management strategies.

Main Methods:

• Literature review.
• Analysis of personal experience with panel testing in clinical practice.

Main Results:

• Panel tests frequently identify variants of uncertain clinical significance (VUS) over deleterious mutations.
• The link between many genes on panels and breast cancer risk is not fully established, with variable penetrance.
• Test turnaround times can be too long for immediate clinical decision-making in newly diagnosed breast cancer patients.

Conclusions:

• NGS panel testing holds promise for identifying individuals with inherited breast cancer predisposition.
• A transitional period of uncertainty exists before the full clinical impact of this technology is understood and optimized.