Expanded Screening to Detect Severe Genetic Conditions in Singapore Couples

3/18/2025 10:28:00 AM | Defining Med

The article is contributed/written by KK Women's and Children's Hospital

PARENTHOOD GENETIC DISEASE CARRIER TEST (PREDICT) PROGRAMME

Singapore couples looking to conceive can now tap on Asia's first enhanced screening programme – launched by KK Women's and Children's Hospital, in partnership with Temasek Foundation.

The Temasek Foundation PREDICT (PaREnthood genetic DIsease Carrier Test) Programme 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 the KKH-led SingHealth Duke-NUS Maternal and Child Health Research institute (MCHRI). The programme is part of the translational research efforts of MCHRI, in collaboration with SingHealth Duke-NUS Institute of Precision Medicine (PRISM) and DxDHub, A*STAR.

ENABLING INFORMED FAMILY PLANNING

Addressing a critical gap

The enhanced screening panel addresses a critical gap in existing tests – studies have found that most genetic test panels miss over 25% of severe recessive disorders common among Asians1. This means that many couples in Singapore could remain unaware of their increased risks of passing on severe genetic conditions to the next generation.

With the Temasek Foundation PREDICT Programme, couples are able to make informed decisions about managing their current or future pregnancies.

Genetic counselling to guide decision-making

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% is expected to be at risk of being a carrier couple, where both individuals are carriers of the same genetic disorder.¹

Carrier screening thus gives couples options – choices that empower them to plan for a future aligned with their values and hopes for the family and child. Through this proactive approach to family planning, the programme aims to help them be more well-prepared for the parenthood journey.

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 disorder.²

In Singapore, three in 100 babies born each year have a rare disorder or birth defect.

Only 5% of rare diseases have treatments approved by the US Food and Drug Administration, and when started early, they can improve the patient’s lifespan and quality of life. The medications are usually needed lifelong and come at high costs. Genomic data from close to 10,000 persons in Singapore¹ found that 80 severe recessive genetic disorders have a carrier rate of at least one in 1,000 persons.

HOW THE EXPANDED CARRIER SCREENING PROGRAMME WORKS

The Temasek Foundation PREDICT Programme now covers an even more extensive panel of over 80 disorders relevant to Asians. Disorders included in the panel are severe, which can result 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, and expected to reach about 40,000 eligible couples. Temasek Foundation will commit close to $11 million for the pilot.

Patient criteria

The Temasek Foundation PREDICT Programme is a voluntary carrier screening programme open to married 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.

Process

The screening process involves a simple blood test and/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

HOW YOU CAN REFER PATIENTS
General practitioners are invited to direct eligible patients to participate in this programme. Interested couples can get in touch via: Email: [email protected] WhatsApp: 6394 3998

HOW YOU CAN REFER PATIENTS

General practitioners are invited to direct eligible patients to participate in this programme. Interested couples can get in touch via:

Email: [email protected]

WhatsApp: 6394 3998

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
Global Genes (https://globalgenes.org/)