37 Background: Genetic risk assessment and testing for patients suspected of inherited cancer susceptibility has become a standard of care in oncology services. Advances in molecular sequencing technology have facilitated the development of multi-gene hereditary cancer testing panels utilizing next-generation sequencing (NGS) methods. Appropriate utilization of these NGS panels by practitioners has been raised as a potential issue. In addition, patient stratification, safety and value-based resource allocation have been cited as possible areas of concern. In 2010, ASCO published updated guidelines for clinical utilization of genetic testing that included ordering based on appropriate risk stratification, informed patient consent, ordering by knowledgeable professionals, testing by a licensed laboratory, and results interpretation supported by counseling with qualified professionals. Methods: 467 patient samples submitted to a single commercial genetics laboratory for hereditary cancer testing by NGS panels were analyzed for compliance with guidelines based on information supplied with samples. Results: All samples were accompanied by an informed consent as part of the requisition. All samples originated from a licensed medical facility and all except one came from the domestic United States. Only 13.1% of providers ordering cancer predisposition testing utilized the NGS panels while 25.1% of organizations ordering cancer predisposition testing utilized the NGS panels. Genetic counselors were involved in 71.5% of the NGS panel orders, medical oncologists were involved with 32.5% of orders, and 24.8% of tests were ordered from practitioners of unknown clinical specialty. Samples from non-Caucasian minorities were under-represented based on national census demographics. Of the NGS samples from breast cancer patients, 90% were reportedly BRCA1/2-negative and median age at diagnosis was 42 years old. Conclusions: Early analysis of the clinical samples received by a single commercial laboratory for NGS hereditary cancer screening demonstrated conservative utilization with general adherence to recommended clinical adoption criteria.
Barriers to clinical adoption of next generation sequencing: Perspectives of a policy Delphi panel
