Success Stories - combined

Development and validation of multiplex RT-qPCR based RSPO Gene Fusion Test. It is a clinical trial assay (CTA) specifically designed for the qualitative detection of recurrent RSPO gene fusions in formalin-fixed paraffin-embedded (FFPE) or fresh frozen colorectal cancer (CRC) tissue. This was part of an early-phase clinical trial of ETC-1922159 (Phase 1B) to support the selection of CRC patients for whom ETC-
1922159 treatment is being considered. Presence of RSPO fusions in CRC patients was shown to be a positive predictive biomarker for ETC-1922159 treatment.

As part of the contribution towards the national response to the COVID-19 pandemic, A*STAR set up the Stronghold Diagnostics Laboratory (SDL), a MOH licensed clinical laboratory for high throughput COVID-19 testing. POLARIS members joined SDL as volunteers, and together with volunteers from several A*STAR Research Institutes, successfully established SDL as a clinical laboratory. POLARIS with its years of experience in clinical environment, instrument and system integration with LIMS, played a key role in ensuring that proper protocols were in place for sample delivery and receiving, sample processing and traceability, result reporting and personnel safety.

Due to the urgent requirements to (a) ramp up sample volume for testing and (b) regularly update COVID-19 test results to MOH, POLARIS volunteers SDL instrumentally established the use of  Laboratory Information Management Systems (LIMS) with integration to the National Electronic Health Record (NEHR) and COVID-19 database, enabling real-time results contribution. SDL now processes several thousand samples daily with results transmitted to NEHR automatically resulting in fast-turn-around time (TAT), one of the important components in fighting COVID-19 virus spread.

A germline panel for clinical exome sequencing test (CET) was launched in 2017. This was jointly developed with KKH and NUHS to support clinical geneticists under the Singapore Undiagnosed Diseases Research programme (SUREkids project). Upon successful completion of the SUREkids project in August 2019, the clinical exome sequencing test (CET) workflow was extended further to include germline variant
curation and Sanger sequencing validation. This test is now available for widespread clinical use.

• In conjunction with Parkway Medical, a Focused Cancer panel (<70 genes) (Somatic) was launched in 2019.
• Stemming from our successful pilot studies in a national project involving NUHS, CTBL (Central TB Lab, SingHealth), SSHSPH (NUS),and TTSH, DNA samples are sent to POLARIS for whole genome sequencing of tuberculosis (TB) as a service.
• POLARIS is also supporting research projects in conjunction with SGH for the systemic genotyping and phenotyping of inherited cardiac conditions.
• Breast Cancer Prognostic Gene Signature assay using NanoString Technology (Prosigna) was launched in 2018.
• A germline panel for familial adenomatous polyposis was validated and launched in 2016.
• A plasma-based EGFR Entrogen test was launched in 2016.
• Somatic solid tumour panel comprising 29 genes was launched in 2015.
• Large Cancer panel comprising over 700 genes (Xplora) was launched in 2015.

RSPO fusion gene drives oncogenesis, sustain tumor growth, promote metastasis via the Wnt signaling pathway. RNA-Seq data identified recurrent gene fusion involving RSPO2 and RSPO3 which together occur in 10 % of colon tumor