Hong Kong start-up aims to lower cost of early autism detection using whole genome sequencing

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.

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.