High costs for overseas genetic testing and lack of insurance protections leave Malaysian families with spinocerebellar ataxia and rare diseases struggling for diagnoses.
PETALING JAYA: For families battling rare inherited diseases, getting answers could come with a hefty price tag, with genetic testing still out of reach for some patients who require samples to be sent overseas.
For Muhammad Ashrol Rani, the barrier became painfully real after spinocerebellar ataxia (SCA) emerged in five members of his family.
Doctors proposed sending a blood sample from his younger brother, Abdul Halim Rani, overseas for genetic testing, but the family could not afford to proceed.
The decision left Ashrol, 31, without the certainty the test could have provided about the inherited condition affecting his family.
“For our family, the cost of genetic testing was a major barrier to obtaining confirmation.
“When my late mother first became ill, we spent thousands of ringgit seeking treatment in the hope that she would recover.
“As the same condition began affecting her children, our income gradually declined and we could no longer meet treatment costs as before,” he told theSun.
Ashrol, who is now the primary caregiver to three relatives living with the progressive disorder, said the family initially knew little about SCA and only recognised a possible inherited pattern after balance problems persisted and several relatives became affected.
On Aug 25, Utusan Malaysia reported that his mother and eldest sister had died after developing SCA, while his sister Suriani, brother Abdul Halim and niece Nor Hafizah Abdul Rahman are living with the progressive disorder.
Ashrol left full-time employment and began selling drinks to give him the flexibility to care for the three family members.
“SCA seemed to enter our family without us realising it. We did not initially understand that problems with balance could indicate a serious hereditary condition.
“We only became aware after it continued for some time and involved several family members.”
For Kuala Lumpur resident Wong Chee Yean, who lives with SCA, diagnostic capacity has improved, but wider consequences remain unresolved.
Wong said blood samples from his family had to be sent to Singapore when his grandmother and mother were diagnosed in the 1990s.
He added that although some genetic tests are now available locally, he estimated that tests that still require overseas processing could cost patients between RM3,000 and RM5,000.
“Progress has been made and should not be dismissed, but local genetic testing remains limited to a small number of rare diseases. Whether a family benefits depends on whether Malaysia could test for that particular condition.
“Not everyone wants to know their genetic status while they are still asymptomatic, especially when a positive result offers no treatment. It may also affect their future insurability, giving them another reason to avoid testing.”
The issue was raised publicly in 2024 by physicians Dr Wong Tze Cheng and Dr Ng Shu Hui, and University Malaya consultant clinical geneticist Prof Thong Meow Keong.
Writing in The Edge Malaysia, they said insurers could potentially use predictive genetic results to deny coverage or impose higher premiums, discouraging individuals from undergoing testing.
They proposed a moratorium preventing insurers from using such results in coverage decisions, alongside clearer ethical guidance, transparency and cooperation between the Health Ministry, Bank Negara Malaysia and the Life Insurance Association of Malaysia.
Another SCA patient, Hafizuddin Fuat, 37, a freelance groom stylist, said subsidised public services could reduce costs, but patients may still face limited testing options, long referral processes and specialist services concentrated in major centres.
He called for sustained public funding for clinically appropriate genetic tests, clearer referral guidelines and a national registry to support planning.
“The system should not wait until one family member develops severe symptoms. Families need earlier information and a clearer route to counselling and appropriate testing.”
Lion Tein Yeah, 55, an unemployed former photo-shop assistant living with SCA in Kuala Lumpur, said financial protection must also remain affordable.
“Medical, life, critical-illness and employer-provided insurance play an important role. The government and insurance providers should ensure that protection is accessible to people from every background.”