Translation Diagnostics / POLARIS

Translation Diagnostics

The Genome Institute of Singapore continues to accumulate new discoveries in genomics, and publish high-level research papers in top scientific journals. In recent years, we have expanded our focus to include direct industrial applications for these findings. The critical challenge facing academic centres like our institute is translating basic research and new technology towards clinical utility.

The Translational Diagnostics Group at GIS promotes the smooth transition from basic research to advances in science and technology, and hence, to innovation. With the ability to develop diagnostics for all assay formats and disease areas, the group can provide strong evidence that newly discovered biomarkers can be a significant tool for personalised patient care. We are equipped with the most advanced technology platforms necessary for research and development in genomics, and application of genomic techniques to biological and medical questions.

In order to achieve major aims, there was a need for a proper Translational Diagnostics Laboratory and experience in engaging industries. Therefore, a Molecular Diagnostics Laboratory was designed and constructed in compliance to ISO 13485 (an internationally recognised standard for the commercialisation of medical devices) workflow requirements. It was subsequently certified and accredited by TÜV Rheinland in December 2014.

The Translational Diagnostics was the first laboratory in GIS to achieve certification, allowing the institute to position itself as a preferred partner for strategic collaborations of local and worldwide biotech, pharma and hospitals. With steady support to the various GIS research groups through assay development, optimisation and validation in regulated environment, it significantly shortens the distance to clinical applications.


POLARIS (Personalized OMIC Lattice for Advanced Research and Improving Stratification) was established by A*STAR in 2013 to pilot the application of clinical genomics in the treatment and diagnosis of medical diseases in Singapore and the region. In partnership with the hospitals and local institutions (such as SNEC, NCCS, SGH, KKH, NUHS, BTI, and EDDC), we have developed and launched tests which can provide specific actionable information to patients and doctors. By harnessing the power of genetics and technology, we can make medical genetics affordable and accessible for everyone, improving healthcare for the patient population in Singapore and the region.

POLARIS Activities Update

(1) CAP Accreditation and PHMC License

POLARIS is very proud and honoured to become the first Next Generation Sequencing clinical laboratory in the South East Asia region to achieve the College of American Pathologists (CAP) accreditation. The CAP Laboratory Accreditation Program certifies the entire spectrum of laboratory test disciplines with the most rigorous requirements, and is recognised as the gold standard in Laboratory Accreditation, assuring that patients receive the highest standard of care in laboratory testing. POLARIS has also been licensed under the Private Hospitals & Medical Clinics (PHMC) Act, to meet the regulatory requirements in Singapore.

(2) OMIC and Clinical Translation @POLARIS

  • 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.
  • 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.
  • 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.

Previous assays successfully established in the POLARIS lab:

  • 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 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.