The Cancer Genomics Resource List 2014

Arch Pathol Lab Med. 2015 Aug;139(8):989-1008. doi: 10.5858/arpa.2014-0330-CP. Epub 2014 Dec 1.

Abstract

Context: Genomic sequencing for cancer is offered by commercial for-profit laboratories, independent laboratory networks, and laboratories in academic medical centers and integrated health networks. The variability among the tests has created a complex, confusing environment.

Objective: To address the complexity, the Personalized Health Care (PHC) Committee of the College of American Pathologists proposed the development of a cancer genomics resource list (CGRL). The goal of this resource was to assist the laboratory pathology and clinical oncology communities.

Design: The PHC Committee established a working group in 2012 to address this goal. The group consisted of site-specific experts in cancer genetic sequencing. The group identified current next-generation sequencing (NGS)-based cancer tests and compiled them into a usable resource. The genes were annotated by the working group. The annotation process drew on published knowledge, including public databases and the medical literature.

Results: The compiled list includes NGS panels offered by 19 laboratories or vendors, accompanied by annotations. The list has 611 different genes for which NGS-based mutation testing is offered. Surprisingly, of these 611 genes, 0 genes were listed in every panel, 43 genes were listed in 4 panels, and 54 genes were listed in 3 panels. In addition, tests for 393 genes were offered by only 1 or 2 institutions. Table 1 provides an example of gene mutations offered for breast cancer genomic testing with the annotation as it appears in the CGRL 2014.

Conclusions: The final product, referred to as the Cancer Genomics Resource List 2014, is available as supplemental digital content.

MeSH terms

  • Databases, Factual*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Neoplasms / genetics*
  • Pathology, Molecular* / standards