Home 5 Clinical Diagnostics Insider 5 Clinical Benefit of NGS Panel-Based Colorectal Cancer Testing Over Sequential Testing Remains Uncertain

Clinical Benefit of NGS Panel-Based Colorectal Cancer Testing Over Sequential Testing Remains Uncertain

by | Feb 19, 2015 | Clinical Diagnostics Insider, Diagnostic Testing and Emerging Technologies

While there may be cost and time savings associated with the use of next-generation sequencing (NGS), panel-based testing for inherited colorectal cancer (CRC), questions remain as to whether the identification of moderate-penetrance genes currently enhances clinical care and management, according to a study published online March 20 in Clinical Genetics. This study is the largest to date to describe results found among clinical patients undergoing panel-based CRC testing and critically assesses the benefits and challenges associated with this testing method. While many tout the potential time and cost savings associated with NGS panel-based testing, these tests increase the complexity of interpreting results in part because of the higher rate of inconclusive results, which may result in lengthier counseling and unnecessary screening and follow-up. However, the hope is that by including moderate-risk genes along with continued analysis of variants of unknown significance (VUS), understanding of cancer risk and case management will improve over time. It is estimated that between 10 percent and 30 percent of patients with CRC have an inherited predisposition, making them prime targets for enhanced risk-based management. Patients who underwent hereditary CRC panel-based testing (ColoNext; Ambry Genetics [Mission Viejo, Calif.]) from March 2012 to March 2013 were identified […]

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