BGI Americas Launches Oseq™ Hereditary Cancer Panel for Global Drug Trials

The newest addition to the BGI pharma solutions offers pharmaceutical companies a customized solution that has played a key role in the global clinical trials and development of the first innovative anti-ovarian cancer precision medicine.

Cambridge, MA (April 1, 2019) – BGI Americas today announced the launch of OseqTM Hereditary Cancer Panel (HCP) to support global clinical trials of anti-cancer drugs using BGI’s DNBSeqTM next-generation sequencing technology. The Oseq panel was launched at the American Association for Cancer Research (AACR) Annual Meeting from March 29 to April 3, 2019, in Atlanta, Georgia.

Oseq HCP is a hereditary cancer assay designed to identify known and emerging tumor biomarkers for 17 cancer types. The assay identifies germline variants covered in full exome regions of up to 115 target genes by the MGISEQ-2000 and Illumina HiSeq 2500 and 4000 systems. One unique feature of the Oseq HCP is the comprehensive coverage of BRCA1/2 gene mutations in a proprietary database that is first in China. The database, BGI Hereditary Cancer Genetic Database v1.0, integrates results from more than 30,000 clinical tests and demonstrates a high consistency rate between automated database and manual interpretations as well as a low percentage of Variant of Unknown Significance (VUS) for BRCA1/2 gene mutations.

Inherited genetic mutations play a significant role in 5% to 10% of all cancers. In particular, the germline mutations in BRCA1/2 genes lead to DNA damage repair deficiency and genetic instability of cells. PARP (Poly ADP-Ribose Polymerase) inhibitor (PARPi) potentially exploits DNA damage repair deficiencies such as BRCA mutations to preferentially kill cancer cells. Clinical studies have shown that the first PARPi is highly potent and has a dual mechanism of action to induce tumor cell death by blocking PARP enzyme activity and trapping PARP on the sites of DNA damage.

The clinical utility of Oseq HCP and pharma experience have proved that BGI is uniquely positioned to offer pharma partners a “China solution” in co-developing precision medicine worldwide:

  • Contributions to a landmark BRCA research and a PARPi development for ovarian and breast cancers: BGI was selected as the BRCA testing lab in China and provided BRCA testing for the first nationwide germline BRCA mutation prevalence study in Chinese ovarian cancer patients (1) and multiple PARPi phase III global clinical studies (2-4) to enable the development of innovative precision medicine for ovarian and breast cancer patients.
  • Proprietary and high-performance germline BRCA-mutated database: More than 30,000 clinical tests were performed in house at BGI to develop a database with BRCA genotypes for the Chinese population, in addition to integrating the database with other public genetic databases such as HGMD and ClinVar. The consistency rate between automated database and manual interpretations is over 99.3% in double-blind tests. The percentage of VUS for BRCA1/2 gene mutations is only 3.1%.
  • Reliable companion diagnostics assays: Oseq HCP has been clinically validated at BGI’s CAP-accredited and CLIA-certified laboratory in Hong Kong. The assay is currently reviewed for accelerated IVD approval by the China National Medical Products Administration (NMPA). This experience provides a companion diagnostics roadmap for BGI’s future pharmaceutical partnerships worldwide, especially in China.

“BGI has a successful track record with the hereditary cancer panel, supporting multiple PARPi clinical trials in China,” said Charles Bao, Ph.D., General Manager of BGI Americas. “The past successes have demonstrated our strength and commitment to driving healthcare innovation through the development and global commercialization of precision medicine. I am optimistic that the Oseq hereditary cancer panel will lead to more approvals of anti-cancer drugs.”

For additional product and availability information, please visit:

  1. 1Int J Gynecol Cancer 2017; 27: 1650-1657
  2. Lancet Oncol 2017; 18: 1274-1284
  3. N Engl J Med 2017; 377: 523-533
  4. N Engl J Med 2018; 379: 2495-2505


About BGI Americas

BGI Americas provides comprehensive sequencing and bioinformatics services for basic and translational research as well as pharmaceutical drug development in North, Central and South Americas. We help our customers achieve their research goals by delivering rapid, high-quality results using a broad array of cost-effective, cutting-edge technologies, including our own innovative DNBseq™ sequencing technology. Our customers also benefit from BGI’s vast scientific expertise and massive sequencing capacity in state-of-the-art service laboratories, including our CAP/CLIA laboratory in Hong Kong. For more information, visit


Media Contact Information:

Anthony Tong, Ph.D.

BGI Americas

+1 617 500 2741






Share with your community
Quick Contact