KKH launches free genetic screening programme for couples planning for children

SINGAPORE: A new genetic screening programme has been launched by KK Women’s and Children’s Hospital (KKH) in partnership with Temasek Foundation, targeted at Singapore couples planning for children or those who are already expecting. 
The pilot programme, which will be free from 2024 to 2027, aims to help couples identify if they are carriers of severe recessive genetic disorders that may get passed down to their children.
It will also help them make informed decisions about family planning, said the hospital in a joint press release with the KKH-led SingHealth Duke-NUS Maternal and Child Health Research institute (MCHRI) on Tuesday (Sep 17). 
Described as a “first-in-Asia”, the Temasek Foundation PREDICT (PaREnthood genetic DIsease Carrier Test) Programme covers more than 80 genetic disorders relevant to the Asian population. 
In Singapore, public carrier screening is usually conducted for specific disorders, said the press release. 
For instance, carrier screening is offered for Thalassemia major in all pregnancies. This helps families understand the risks of the disorder and reduces 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,” it added. 
Antenatal screening is also available for all pregnancies for Down syndrome and common chromosomal disorders, as well as high-risk pregnancies with known family history of certain disorders and mothers aged above 35 years. 
The newly launched programme covers a more extensive panel of over 80 disorders relevant to Asians.
It includes disorders that are severe, resulting in shortened lifespan and severe intellectual or physical disability, said KKH and the Maternal and Child Health Research Institute. 
These disorders, which include spinal muscular atrophy and primary bile acid synthesis disorder, are also common in Singapore, occurring in at least one in 1,000 people, read the release.
All screenings will be carried out and processed at KKH. This programme will also be introduced to other obstetric clinics in the future. 
“Based on the pilot, KKH will assess how to scale the programme by 2027.”
The enhanced programme addresses a “critical gap” in existing tests, said Associate Professor Saumya Jamuar, a senior consultant in genetics service at KKH. 
He said that studies show most genetic test panels miss over 25 per cent of severe recessive disorders common among Asians. 
“This means that many couples in Singapore could remain unaware of their increased risks of passing on severe genetic conditions to the next generation,” he added. 
In Singapore, three in 100 babies born each year have a rare disorder or birth defect, said KKH and the Maternal and Child Health Research Institute. 
Carriers of such disorders 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, they added. 
“Up to one in 250 couples … is expected to be at risk of being a carrier couple, where both individuals are carriers of the same genetic disorder.”
With the new programme, “couples are able to make informed decisions about managing their current or future pregnancies”, Assoc Prof Saumya said. 
The screenings will also include counselling for at-risk couples to help them understand the risks of potentially passing an inherited disorder to their child, he added. 
The programme is voluntary and is open to couples with at least one partner who is a Singaporean or permanent resident. 
Screenings can be conducted before or during pregnancy and couples may be referred to the programme during obstetric visits at KKH. 
Self-referrals for appointments are also available. Those interested can email carrierscreening [at] singhealth.com.sg or reach out via WhatsApp at 6394 3998.
“KKH will be offering the test in a phased manner, starting with couples planning to start family, and then expanding to include couples in early stages of their pregnancy,” the hospital said in an update on Wednesday.
The process involves a blood test or cheek swab. 
Couples who are identified as carriers of genetic disorders will receive counselling to help them understand the results as well as explore and make informed decisions regarding available family planning options. 
The pilot targets to screen around 40,000 eligible couples. 
“We will assess later based on feedback, clinical workflows and technology advancements before deciding how and when to scale this up,” added KKH in response to CNA’s query.
Carrier screening is not about making decisions for couples but about giving them more options that empower them to plan for a future aligned with their values and hopes for the family and child, said Mr Kee Kirk Chuen, the head of health and well-being at Temasek Foundation. 
“Parenthood can be tough and we hope that this proactive approach to family planning can help them be more well-prepared,” he said.