Using a theoretical model, researchers at the University of Washington have determined that use of next-generation sequencing (NGS) panels for diagnosis of hereditary colorectal cancer and polyposis (CRCP) syndromes appears to be a cost-effective approach with significant clinical benefits.1

Evaluation for CRCP syndromes is a frequent reason for referral to cancer genetics clinics. The most common of these diseases, which are characterized by a strong personal or family history of colon cancer and/or polyps, is Lynch syndrome, which is associated with variations in MLH1, MSH2, MSH6, PMS2, or EPCAM.

Current methods of screening patients suspected of having a CRCP syndrome have poor sensitivity and specificity and are not considered accurate.

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NGS technologies, also called massively parallel sequencing, are designed to lower the cost of genetic screening by performing thousands of sequences simultaneously.

Although the introduction of NGS panels is promising to change the evaluation of inherited cancer syndromes, several authorities have argued that its higher cost may outweigh its clinical benefits.

To address this issue, the study authors developed a decision model designed to estimate the immediate and long-term costs and benefits of an NGS panel for patients undergoing assessment for CRCP syndromes and of surveillance with colonoscopy for family members of affected patients.

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The NGS panel was compared with the standard of care, which begins with immunohistochemistry of colorectal cancer tissue and continues with further sequencing if abnormalities are found.

Four hypothetical NGS panels were analyzed for their effects on total health care costs, life-years gained, and quality-adjusted life-years (QALY) gained:

  • Panel 1 included only Lynch syndrome genes;
  • Panel 2 included panel 1 plus genes associated with autosomal dominant CRCP syndromes with high penetrance;
  • Panel 3 included panel 2 plus genes associated with autosomal recessive CRCP syndromes with high penetrance;
  • Panel 4 included panel 3 plus genes associated with autosomal dominant CRCP syndromes with low penetrance.