An Overview of Comprehensive Genomic Profiling Technologies to Inform Cancer Care

Abstract


 Horizon Scan reports provide brief summaries of information regarding new and emerging health technologies; Heath Technology Update articles typically focus on a single device or intervention. This Horizon Scan summarizes the available information regarding emerging comprehensive genomic profiling (CGP) technologies for informing cancer treatments.
 These technologies are based on next-generation sequencing platforms, which can characterize up to hundreds of genes and other genomic information with a single sample. Emerging tests are also compatible with minimally invasive liquid biopsies that use fluids such as blood samples to support clinical decision-making. CGP could be an alternative or a complement to conventional testing that uses single-biomarker assays or limited gene panels.
 Some emerging CGP tests available in Canada, the US, and Europe are being considered to inform the treatment of non–small cell lung cancer (NSCLC) because it has the highest number of identified biomarkers. Most identified studies have examined CGP use with NSCLC.
 The emerging evidence about the clinical and cost-effectiveness of CGP technologies for either NSCLC or other cancer types remains uncertain. Without randomized trials and robust study designs, it is not yet well-established whether the additional costs and technical requirements of CGP may provide better clinical outcomes compared with conventional molecular testing.
 This Horizon Scan also provides considerations for health systems about testing infrastructure, training for health care professionals, and understanding different patients’ perspectives should CGP or other next-generation sequencing technologies become more widely used in Canada.

2023 Watch List: Top 10 Precision Medicine Technologies and Issues

“…106 Many health care professionals (e.g., primary care practitioners, pharmacists, oncologists) report having limited awareness and knowledge of how to order and interpret precision medicine test results. 107,108 They also describe struggling to contextualize the results along with other phenotypic information, including the social and environmental determinants of health, in ways that make them clinically actionable. 81,106,109 The difficulties around genetic test interpretation can be exacerbated when providing care to people who are underrepresented in health care.…”