Genomic Assessment Centre

Senior Consultants

Adjunct Associate Professor Chin Hui-Lin

Consultant

Dr Fathima Ashna Nastar

Associate Consultant

Dr Koh Chee Tek

Genetic Counsellors

Ms Chen Yanni

Ms Shreya Surendra Shetty

Genetic Counsellor Associate

Ms Lim Ker Wei

The following services are available for patients and families:

• Pre-test genetic counselling: to understand genetic testing, its potential outcomes, and benefits.
• Genetic testing: typically involves collecting a single blood sample.
• Post-test genetic counselling: to interpret the genetic results and discuss how they may impact treatment and inform testing options for family members.

Family members of patients with a genetic condition may be offered genetic evaluation at the NUH GAC.

Familial Hypercholesterolemia

National University Hospital, Medical Centre (Zone B), Level 9

For enquiries, please email us at: [email protected].

What is Familial Hypercholesterolaemia?
Familial Hypercholesterolemia (FH) is a genetic condition that impairs the body's ability to handle LDL cholesterol, often referred to as "bad" cholesterol.  People with FH often have very high LDL cholesterol levels in the blood. Without treatment, there is an increased risk, of up to 20 times higher, of developing heart disease at an earlier age (for example in young adulthood) compared to people without FH.

How common is FH in Singapore?
About 1 in 140 people in Singapore carry a mutation that can cause FH. Many of them may not be aware that they have the condition. 

How can FH be diagnosed? 
FH is a silent condition because patients with high cholesterol typically do not have symptoms. Doctors may suspect you have FH based on the level of LDL cholesterol in the blood, or if you have certain clinical features or suggestive family history. They may then refer you for genetic testing for confirmation of FH.

Why is genetic testing important in the treatment of FH?
With genetic testing, FH can be confirmed. It allows FH to be detected early. If appropriate treatment is given early, the risks of heart diseases can be lowered to the same level as people without FH. Genetic testing can identify the mutation. With this, family members, even if they have normal blood cholesterol levels, can undergo genetic testing to see if they inherit the same mutation. This way, they can receive appropriate monitoring and treatment to best reduce their risks of heart attacks. 

Genetic tests for FH
This usually involves the collection of a single episode of blood sample. Testing on a panel of genes related to FH will be performed. Results are expected in 3-4 months. Subsidies for genetic testing for FH as part of the National Familial Hypercholesterolemia Genetic Testing Programme in Singapore are available in NUH Genomic Assessment Centre.

How can one qualify for subsidies for FH genetic testing?
All of the following requirements must be met to receive subsidies for the FH genetic test:

1. Singapore residents or permanent residents
2. LDL-C Level of ≥ 5.5 mmol/L (≥ 212 mg/dL) currently or at any point in the past (e.g. before treatment)
3. Referral from the following sources:
   • Community Health Assist Scheme (CHAS) General Practitioner (GP) clinics
   • Polyclinics
   • Specialist outpatient clinics at Public Healthcare Institutions (Hospitals)
   The respective clinics will refer you to GAC and you will be given an appointment.

NUH GAC will guide patients who test positive for FH on how their family members can undergo genetic screening.

How are appointments to NUH GAC obtained?
Patients should obtain referrals through their healthcare providers including general practitioners, doctors in polyclinics, public or private healthcare institutions.

General practitioners may refer using HealthierSG Clinic Management System or via CHAS Referral Form. For enquiries related to appointments, email NUH GP Liaison Centre at [email protected].

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