Personalised Medicine

Overview

The Personalised Medicine Service was established in 2015 to advance clinical care with appropriate genetic testing and counselling.

Our Molecular Diagnostic Laboratory (MDL) is accredited by the College of American Pathologists (CAP) to provide a range of testing for germline (inherited) and somatic (acquired) variants. It employs cutting-edge sequencing and bioinformatics for diagnosis and clinical interpretation. The laboratory is active in test development and works closely with clinical colleagues to meet new demands. It has well established national links for both diagnostic and research collaborations.

The Genetic counselling service provides care for families and individuals who have or at risk of a genetic disorder. Our service focuses mainly on oncology (cancer genetics) but is expanding into non-oncology disorders.

MDL is dedicated in providing quality and timely lab results for optimal patient management. Our tests include single gene and panel-based testing using different techniques including High resolution melt curve analysis, TaqMan genotyping, Droplet digital PCR, Sanger sequencing, Microarray and Massively parallel sequencing.

We work collaboratively to drive innovations and develop new tests. MDL is pioneering pharmacogenomic testing using a lab developed panel to offer a more personalised model of care for drug selection and dosing. Under our pipeline includes the development of polygenic risk scores, the latest advances in precision medicine, to improve health outcomes through more personalised disease risk management.

MDL Test Listing

Test	TAT (Working Days)	Specimen Type & Requirement
Oncology
BCR-ABL1 p210 Fusion Transcript Analysis	10	Whole Blood or Bone Marrow (EDTA, 3ml), 2 tubes Specimen must reach MDL within 24 hours of blood draw. Specimen receipt timing: 8.30am – 3.30pm on weekdays only.
BCR-ABL1 Fusion Transcript Screening	10
CALR Exon 9 Mutation Detection	7	Whole Blood or Bone Marrow (EDTA, 3ml), 1 tube
FLT3 Mutation Analysis	3 - 5
JAK2 V617F, CALR Exon 9 and MPL Exon 10 Mutation Detection	10
JAK2 Exon 12/13 HRM Mutation Analysis	10
JAK2 V617F Mutation Detection	7
MPL Exon 10 Mutation Analysis	7
HAEM Malignancies NGS	14 - 21	Whole Blood or Bone Marrow (EDTA, 3ml), 1 tube This test requires patient consent.
TP53 Sequence Analysis	10 - 14
Pharmacogenetics
HLA-B*15:02 Genotyping	1 - 3	Whole Blood (EDTA, 3ml), 1 tube
CYP2C19 genotyping	1 - 3
CYP2D6 Genotyping with CNV	7 - 10
CYP3A5 Genotyping	1 - 3
DPYD Genotyping	1 - 3
PGx Targeted Panel	7 - 10
TPMT and NUDT15 Genotyping	1 - 3
UGT1A1 genotyping	3 - 5
CYP2C19 and CYP2D6 genotyping	10-14
HLA-B*58:01 Detection	1 - 3
Warfarin Genotyping	1 - 3
Others
TTR Sequence Analysis	10 - 14	Whole Blood (EDTA, 3ml), 1 tube This test requires patient consent.
NOTCH3 Targeted Sequencing	10 - 14
Targeted Variant Analysis	10 - 14

During the genetic counselling session, our genetic counsellor will:

Compile a comprehensive picture of your family tree
Analyse genetic risks for certain diseases or cancer
Discuss what test are available and whether genetic testing might be right for you
Explain the results of genetic tests and what they mean for you and your family
Provide guidance and emotional support to help you decide what to do next

Some genetic conditions may need specialist care and management involving further appointments with other specialists. This is more likely to be true for the inheritable cancer syndromes. Currently, TTSH genetic counselling service is open to referrals from clinicians, mainly from Oncologists. We also accept referral from non-oncologist physicians such as Neurologists and Cardiologists.