Celebrated global clinical geneticist Kym Boycott has painted a rosy picture of medical development in the Guangdong-Hong Kong-Macao Greater Bay Area, praising China’s strengths in getting clinical trials off the ground in a fast and affordable manner to deal with rare diseases.

She spoke in an interview with China Daily on the sidelines of the International Genomic Medicine Symposium at Hong Kong’s Science Park in November last year.

Boycott was among a legion of heavyweights from more than 20 countries and regions who attended the conference. The Canadian medical veteran, who co-chairs the Rare Diseases International - Lancet Commission on Rare Diseases, was also in the Hong Kong Special Administrative Region for the commission’s first-ever annual meeting to be held in Asia.

Heaping praise on China’s rapid development in the medical field, she noted that the country's population, as well its excellent technology and doctors, have added up to a healthcare system that could practically run on its own.

“They don’t need me as much as I need them,” she said in jest, as Canada has a notable number of Chinese descendants living there.  

Boycott spoke highly of how clinical trials are happening faster and cheaper in China – a process, she said, would be slower and costlier in Canada or the United States due to excessive red tape.

The quick response of clinical trials reflects the fact that China has a large population, with a well-established infrastructure that could transport patients speedily and efficiently.

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“From an international perspective, China is doing some really amazing things concerning rare disease clinical trials,” Boycott said.

In her view, the Greater Bay Area has shown great potential in medical development.

Boycott, who visited a sequencing facility in Shenzhen in 2012, said she was impressed by the technology-driven boomtown’s achievements.

She has high hopes for integrating a strong technology powerhouse like Shenzhen with the Greater Bay Area’s well-established supply chain, saying it’ll be “greater than the sum of its parts” and the “impact will be tremendous”.

“I’m very excited about what I’m hearing about the Greater Bay Area and its potential for significant medical innovation that’ll have an impact not only on the region, but also the world. I see it as bringing together a unique combination of expertise and resources, plus technology that, to my knowledge, really isn’t found anywhere else in the world.”

“And, I think, it’s gonna enable faster discoveries to help more patients and families living with rare diseases,” she said.

Boycott said, as a clinical geneticist, she meets patients of Chinese origin monthly. So, genome sequencing projects like the one being taken on by the Hong Kong Genome Institute are, indeed, very helpful globally, particularly for those whose ancestors are from southern China and now living in other parts of the world.

“We’ve about 20,000 genes. We know that about 400 to 500 or so of those, when they change, can cause a very significant condition called a rare genetic disease,” Boycott said.

That’s what a clinical geneticist does -- providing diagnosis and precision management for patients of rare genetic diseases. It’s a concept that’s not common in Hong Kong, but the city has been making efforts on this front as well. Hong Kong’s first large-scale genome sequencing project, which kicked off in 2021, had recruited 52,000 patients by mid-October last year, surpassing its initial goal of 40,000 to 50,000 patients by 2025.

Besides setting up a DNA database for the local population, Boycott said such a project has contributed to mankind and patients globally.

She said at least several of the genetic discoveries have been made in Hong Kong.

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In a notable case, a new disease came to light as a result of the HKSAR’s efforts. Genome sequencing has helped to identify a genome missense variant on gene PSMF1 in a 16-year-old patient that caused motor delay problems, as well as progressive deterioration in walking and cognition.

During a three-year investigation into the root causes of the patient’s condition, the commission, via a global non-governmental matchmaker exchange program, found 24 patients in 17 families who had similar symptoms without knowing the cause.

The Matchmaker Exchange program, which was created in 2013, has a database of 140,000 patients with rare diseases from 115 countries and regions, according to Boycott.

She applauded the HKSAR government’s ambitious plan to establish its own medical regulatory body for registering drugs and medical devices. The Hong Kong Centre for the Medical Products Regulation is expected to be set up this year.

Such top-down support from the Hong Kong authorities, she said, makes medical development like “rolling the rock down the hill”, rather than “up the hill” in other places.