Hong Kong start-up aims to lower cost of early autism detection using whole genome sequencing
- BlueSky Precision Medicine offers a set of tests for children under 18 months with a family history of autism that could determine their risks of developing the disorder
- Whole genome sequencing determines the order of the four chemical bases that make up a DNA molecule, revealing changes that could cause diseases
A diagnostics start-up in Hong Kong is aiming to make it affordable to identify autism risks in infants and toddlers, as recent technological advances significantly lower the cost of whole genome sequencing-based disease detection.
BlueSky Precision Medicine, established in January this year and accepted by Hong Kong’s government-funded tech hub Cyberport in May, is providing a set of tests for children under 18 months with a family history of autism that could determine their risks of developing the disorder.
Traditionally, treatments can only be provided to autistic children above 2 years old who already display full-scale symptoms. Now, earlier discovery and intervention enabled by whole genome sequencing leads to improved treatment outcomes and reduces the burden on the public healthcare system, BlueSky co-founder and CEO Daniel Siu told the South China Morning Post in an interview last week.
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Whole genome sequencing determines the order of the four chemical bases that make up a DNA molecule, revealing changes that could cause diseases. In the early 2000s, the lab procedure could cost as much as US$100 million, but is now available for US$1,000, according to the National Human Genome Research Institute in the US.
“What we have today in 2023 is almost like everything combined from the last 20 years at a fraction of the cost,” Siu said.
With recently achieved better scientific understanding of the genetic architecture of autism, and the advance of whole genome sequencing technologies and computational power, BlueSky can make its early autism screening programme “affordable to the middle class” in Hong Kong, Siu said.
With potential subsidies from non-governmental organisations and individual donors, the firm is hoping to bring the price of the test down to HK$5,000 (US$637) next year, with availability for low income families provided on a case-by-case basis, according to the founder.
The test is now available through Doctor Wai Fan Fanny Lam at the Hong Kong Developmental Paediatrics and Child Neurology Centre, as BlueSky moves to work with more specialists in the city, Siu said.
The firm claims it can successfully predict autism in 85 per cent of pre-symptomatic kids, which is high for clinical tests because about 30 per cent of autism is caused by environmental factors.
Recommendations from the city’s government included the Hong Kong Genome Project (HKGI), launched in October 2021, which recruits patients with undiagnosed disorders or hereditary cancer who could receive more precise diagnosis and personalised treatment through whole genome sequencing.
With the goal of establishing a “genome database of the local population, testing infrastructure and talent pool”, the project aims to conduct whole genome sequencing for 20,000 cases in five years, and by the end of last year had collected 6,000 samples, according to the HKGI’s annual report published in December.
BlueSky was born out of Rainbow Genomics, a company Siu founded in 2016 to offer clinical whole genome sequencing tests for paediatric and adult rare diseases.
A recent breakthrough in the field of proteomics has also allowed Rainbow Genomics to offer a test that determines a range of a patient’s imminent health risks, including first and second heart attack risks within three years and lung cancer risk within five years, according to Siu. The test is available at the city’s private Hong Kong Sanatorium & Hospital, while Rainbow is in talks with 20 hospitals and clinics to provide the service, he added.
