KK Women's and Children's Hospital (KKH) in partnership with Temasek Foundation has launched the Temasek Foundation PREDICT (PaREnthood genetic DIsease Carrier Test) Programme, a first-in-Asia enhanced screening programme for Singapore couples looking to conceive or who are already expecting. The screening aims to detect if couples are carriers of severe recessive genetic disorders which may get passed down to their offspring. The pilot programme covers over 80 genetic disorders relevant to the Asian population, using the first such test developed by KKH-led SingHealth Duke-NUS Maternal and Child Health Research institute (MCHRI).
Associate Professor Saumya Jamuar, Senior Consultant, Genetics Service, KKH said, “With the Temasek Foundation PREDICT Programme, couples are able to make informed decisions about managing their current or future pregnancies. The enhanced screening panel addresses a critical gap in existing tests – studies have found that most genetic test panels miss over 25 per cent of severe recessive disorders common among Asians2. This means that many couples in Singapore could remain unaware of their increased risks of passing on severe genetic conditions to the next generation.
“Screening of these disorders – all of which have onset in early childhood and can significantly impact a child's lifespan and cognitive abilities – includes counselling for at-risk couples, to help them better understand the risks of potentially passing an inherited disorder to their child and make informed decisions about family planning.”
A carrier may not show symptoms or have serious health issues. If both parents are carriers but are otherwise healthy individuals, they might only discover the risk after an affected child is born. Up to 1 in 250 couples or 0.4 per cent is expected to be at risk of being a carrier couple, where both individuals are carriers of the same genetic disorder2.
Mr Kee Kirk Chuen, Head, Health & Well-being, Temasek Foundation said, “Carrier screening provides couples with understanding about their genetic risks of having a child with a severe rare disease. This is not about making decisions for them, but about giving them more options – choices that empower them to plan for a future aligned with their values and hopes for the family and child. Parenthood can be tough, and we hope that this proactive approach to family planning can help them be more well-prepared.”
How genetic disorders impact the Singapore population
Globally, there are over 7,000 known rare diseases, with half of these affecting children. One in three children admitted to intensive care has an underlying genetic disorder3. In Singapore, three in 100 babies born each year have a rare disorder or birth defect.
Only five per cent of rare diseases have treatments approved by the US Food and Drug Administration, and when started early, can improve the patient’s lifespan and quality of life. The medications are usually needed lifelong and come at high costs.
Category | Examples of Disorders | Incidence of carriers in the Singapore Population2 | Estimated Yearly Treatment Costs Per Patient (SGD) |
Blood Disorders |
| Up to 1 in 30 | 100,000 |
Neuromuscular Disorders |
| Up to 1 in 50 | 800,000 |
Metabolic Disorders |
| Up to 1 in 250 | 298,000 to 411,000 |
Genomic data from close to 10,000 persons in Singapore2 found that 80 severe recessive genetic disorders have a carrier rate of at least one in 1,000 persons.
Public antenatal screening in Singapore
In Singapore, public carrier screening is usually conducted for specific disorders. For instance, since 1992, carrier screening is offered for Thalassemia major in all pregnancies. Screening has helped families to understand the risks of the disorder and reduce the incidence of the disorder by over 90 per cent. Children with Thalassemia major face mounting health challenges from infancy and require lifelong medical care.
Antenatal screening is also extended to:
The expanded carrier screening programme now covers an even more extensive panel of over 80 disorders4 relevant to Asians. Disorders included in the panel are severe, resulting in shortened lifespan, and severe intellectual or physical disability. These are also common locally, with a frequency of at least one in 1,000 persons.
The pilot programme is offered free from 2024 to 2027. Temasek Foundation will commit close to $11 million for the pilot, which is expected to reach around 40,000 eligible couples.
How the expanded carrier screening programme works
Temasek Foundation PREDICT Programme is a voluntary carrier screening programme open to couples with at least one partner who is a Singapore Citizen or Singapore Permanent Resident. Screening can be conducted before or during pregnancy, and couples may be referred to the programme during obstetric visits at KKH. This programme will be introduced to other obstetric clinics in the future. Based on the pilot, KKH will assess how to scale the programme by 2027.
The screening process involves a simple blood test or cheek swab. If couples are identified as carriers of genetic disorders, they will receive counselling to help them understand the results as well as explore and make informed decisions regarding available family planning options. All screening will be carried out and processed at KKH.
Self-referral for appointments at KKH is also available. Interested couples can email [email protected] or get in touch via WhatsApp at 6394 3998.
Temasek Foundation PREDICT Programme is part of the translational research efforts of KKH-led MCHRI, in collaboration with SingHealth Duke-NUS Institute of Precision Medicine (PRISM) and DxDHub, A*STAR.
[1] A recessive genetic disorder occurs when a person inherits a copy of a gene that doesn’t work from both parents, causing that disorder. If a person inherits a copy from one parent only, he/she will be a carrier and typically will not show symptoms of the disorder.
[2] Chan, S. H., SG 10K_Health Consortium. (2022). Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nature Communications, 13 , 6694. https://doi.org/10.1038/s41467-022-34043-2
[3] Global Genes (https://globalgenes.org/)
[4] Disorders on the panel also include Thalassemia major, Spinal muscular atrophy, as well as Primary bile acid synthesis disorder, Hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency, Pompe disease, and Mucopolysaccharidosis type VI (MPS VI), which are supported by the Rare Disease Fund (RDF). Managed by the KKH Health Fund, a part of the SingHealth Fund and supported by the Ministry of Health, RDF is a charity fund that seeks to provide long-term financial support for patients with rare diseases requiring treatment with high cost medicines.