Predictors of next-generation sequencing panel selection using a shared decision-making approach

Eliza Courtney,Tarryn Shaw,Joanne Ngeow,Yanni Chen,John Carson Allen,Shao-Tzu Li

doi:10.1038/s41525-018-0050-y

Abstract

The introduction of next-generation sequencing panels has transformed the approach for genetic testing in cancer patients, however, established guidelines for their use are lacking. A shared decision-making approach has been adopted by our service, where patients play an active role in panel selection and we sought to identify factors associated with panel selection and report testing outcomes. Demographic and clinical data were gathered for female breast and/or ovarian cancer patients aged 21 and over who underwent panel testing. Panel type was classified as ‘breast cancer panel’ (BCP) or ‘multi-cancer panel’ (MCP). Stepwise multiple logistic regression analysis was used to identify clinical factors most predictive of panel selection. Of the 265 included subjects, the vast majority selected a broader MCP (81.5%). Subjects who chose MCPs were significantly more likely to be ≥50 years of age (49 vs. 31%; p < 0.05), Chinese (76 vs. 47%; p < 0.001) and have a personal history of ovarian cancer (41 vs. 8%; p < 0.001) with the latter two identified as the best predictors of panel selection. Family history of cancer was not significantly associated with panel selection. There were no statistically significant differences in result outcomes between the two groups. In summary, our findings demonstrate that the majority of patients have a preference for interrogating a larger number of genes beyond those with established testing guidelines, despite the additional likelihood of uncertainty. Individual factors, including cancer history and ethnicity, are the best predictors of panel selection.

Highlights

Over the past few decades, our understanding regarding the hereditary nature of cancer has evolved considerably, and over 200 hereditary cancer syndromes have been described.[1,2] With the advent of next-generation sequencing (NGS), cancer genetic testing has transformed from phenotype-directed singlegene testing to comprehensive panel testing, where multiple genes are interrogated simultaneously
The National Cancer Centre Singapore (NCCS) Cancer Genetics Service (CGS) has employed a Shared decision-making (SDM) approach for NGS panel testing since its inception in 2014, and the present study provides an overview of the selection patterns among breast and ovarian cancer patients
The vast majority of patients who proceed with NGS panel testing opt for broader NGS panels, often beyond the clinical indication

Summary

INTRODUCTION

Over the past few decades, our understanding regarding the hereditary nature of cancer has evolved considerably, and over 200 hereditary cancer syndromes have been described.[1,2] With the advent of next-generation sequencing (NGS), cancer genetic testing has transformed from phenotype-directed singlegene testing to comprehensive panel testing, where multiple genes are interrogated simultaneously. The results will provide clinicians and policy makers with insights into the potential factors influencing patients in their decision-making and presents real-life data for the application of SDM to NGS panel selection. This will contribute to the understanding of patient preferences and may have implications for the future development of NGS panel guidelines

RESULTS

DISCUSSION

METHODS

Limitations