Exploiting Molecular Features of Disease to Personalise Disease Management

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Associate Professor Richie Soong of the Department of Pathology brings 20 years of molecular pathology experience to his role as head of the Centre for Translational Research and Diagnostics (CTRAD) at the NUS Yong Loo Lin School of Medicine. This unique Centre functions as a hybrid diagnostics and research laboratory. Besides serving as a clinical diagnostics facility that offers more than 150 different tests, CTRAD is also engaged in research to develop new healthcare models and discover novel disease markers.

The diagnostics arm of CTRAD is a one-stop shop for molecular pathology offerings that consists of six divisions: Biosample Repository, Digital Pathology, Medical Genomics, Medical Bioinformatics, Molecular Pharmacology, and Molecular Diagnostics. Significantly, the Molecular Diagnostics laboratory is certified by the College of American Pathologists (CAP), a globally recognised accreditation. One of the main advantages of CTRAD is the seamless integration of its different parts. Clinicians submit their patient samples at a single entry point, after which testing of the samples is coordinated. Another advantage of CTRAD is its clinical anchoring in the National University Hospital (NUH). Finally, the Centre benefits from agreements with many partners in the pharmaceutical and biotech industry. CTRAD thus acts as a liaison between industry and the clinic.

On the research front, Assoc Prof Richie Soong is involved in a range of projects, including using next-generation sequencing (NGS) technology in personalised disease management (see Facts Box). In one study, his laboratory has applied NGS to determine the mutation status of 50 genes in tumours for more than 100 cancer patients. These patients had late-stage solid tumours that had failed to respond to several lines of treatment. The goal of the analysis is to give clinicians information about specific cancer mutations in each patient’s tumours, to help them select appropriate targeted treatments.

The potential impact of the panel was stunningly illustrated by the response of one of the study participants, a 68-year-old woman with metastatic breast cancer that had responded poorly to multiple therapies. After the 50-gene panel identified mutations in the PIK3CA gene (causing abnormally active phosphoinositide 3-kinase or PI3K), the woman was given PI3K inhibitor therapy. Within a few weeks, her tumours started to shrink, becoming dramatically smaller after one and a half months.

“The efficient development of this test was possible because of the collaborative effort involving CTRAD, other NUH diagnostic centres, and the whole oncology clinic,” says Assoc Prof Soong. “This is what differentiates us—the ability to readily integrate the clinic and the laboratory.”

Facts

The Power of Next-Generation Sequencing (NGS)

  • NGS efficiently sequences large sections of DNA.
  • Such sequencing provides information about an individual’s disease risk and likely treatment response.
  • Patient’s disease risk and predicted treatment response could help guide disease management strategies.