Rainbow Genomics to Present at the Upcoming 68th Annual Meeting of the American Society of Human Genetics

San Francisco, October 3, 2018

Title: “Mutation spectrum identified by germline testing of hereditary cancers from 500 healthy Chinese individuals using an accessible 30-gene panel following ACMG guidelines”

Date/Location: Tuesday, October 16 - Saturday, October 20, 2018, at the San Diego Convention Center (Room 22) in San Diego, California.

Come join us at the ASHG meeting.


D. Siu , L. Servais , Y. Okazaki , S. Lam , K. Law , J. Wu , A. Gardner , A. Zhou


Rainbow Genomics, Hong Kong; Color Genomics, Burlingame, CA; Juntendo University Graduate School of Medicine, Tokyo, Japan; Hong Kong Sanatorium and Hospitals, Hong Kong; HKDNA Laboratory, Hong Kong


Driven by rapid reduction of DNA sequencing cost and increased access to testing, significant progress has been made in the characterization of hereditary cancer variant carriers in the U.S. and European populations. In contrast, relatively few studies have been conducted in the Chinese population, especially regarding asymptomatic carriers of germline pathogenic variants.

With physician consultation and genetic counseling support, Hong Kong-based Rainbow Genomics has been providing hereditary cancer testing to both patients with cancer symptoms and healthy individuals, and the testing and reporting process follows current American College of Medical Genetics and Genomics (ACMG) guidelines. Here, we present the results of testing over 500 healthy Chinese individuals by next-generation sequencing using a 30-gene panel, in collaboration with Color Genomics (Color). The 30-gene panel detects pathogenic variants associated with increased risk for hereditary breast,ovarian, uterine/endometrial, colorectal, melanoma, pancreatic, prostate, and stomach cancer (APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF and p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, and TP53). The testing was performed at Color’s U.S. laboratory under CLIA and CAP compliance. English and Chinese clinical reports, localized pre-test consultation, and post-test genetic counseling in Mandarin or Cantonese were provided.

Initial results indicate pathogenic or likely pathogenic variants were detected in over 8% of these individuals, higher than the 1% - 3% previously reported in the literature for healthy ethnic Chinese. The positive findings were mostly associated with colon and breast cancer variants. A significantly higher number of individuals also received reports with one or more variants of uncertain clinical significance (VUS). In this presentation, we will report the mutation spectrum of pathogenic and likely pathogenic variants, as well as the VUS detected. This Chinese variant distribution will be compared to those from other ethnic groups using data generated from Color’s worldwide testing results.