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Zhang Tong

China’s low-cost genome sequencing capabilities are being used in Europe.
In collaboration with Swedish institutions, Chinese researchers have analysed whole genomes and transcriptomes – which describe the set of mRNA transcripts produced in a given cell or tissue type – from 1,063 Swedish patients.
These patients suffered from colorectal cancer (CRC), the third most prevalent and the second deadliest type of tumour worldwide.
This research has identified 96 CRC-related genetic mutations, including nine previously unknown to colorectal cancer and 24 completely new to any form of cancer.


The team also built a complete model to estimate the patient’s survival time.
Their findings give insights into the disease and could lead to early screening and more personalised and effective treatments, according to BGI Genomics, a company involved in the study.
It is the first time that China – aided by a booming biotech industry – has conducted large-scale genome sequencing in an international cancer study, according to researchers involved in the study that was published in Nature journal on August 7.
“This groundbreaking study, the most comprehensive of its kind, benefits from BGI’s cost-effective testing capabilities and the detailed, complete patient data provided by [Sweden’s] Uppsala University,” said lead author Wu Kui, chief scientist from the BGI Genomics Institute of Intelligent Medical Research and co-corresponding author of the study.
“The data is from one of the world’s largest colorectal cancer data sets with comprehensive clinical and genomic information named U-CAN.”
Whole genome sequencing, which involves measuring nearly the entire DNA sequence of an organism’s genome at once, has become much more affordable and accessible.
“Thanks to methodological breakthroughs. It once cost more than US$3 billion to sequence a person, now it only costs around US$100,” Wu said.
“This reduction in cost and the increase in data quality have allowed researchers to delve deeper into the disease’s mechanics, improving our understanding and potentially guiding new drug developments.”
The quality of the data, particularly the high-standard sample repository from Sweden, has been crucial.
Unlike many studies that only record initial patient consultations, this research included comprehensive clinical information and conducted follow-ups for more than 90 per cent of the patients for up to five years.
The detailed records enabled the team to extensively analyse different survival outcomes.
The whole genome analysis of each patient covers more than 20,000 genes, and the clinical information includes multidimensional information, such as gender, age, consultation time, survival time, treatment method and lifestyle habits.
By leveraging AI and deep learning, the team said it handled the large and complex data sets more efficiently, identifying key genetic markers that could influence CRC prognosis.
Also, thanks to the expansion of data, the team established a prognostic model with higher resolution. Based on existing classifications, it added the impact of multiple mutation events on prognosis and helped doctors evaluate patients’ survival time and tailor individualised treatment plans.
“Some mutations appear early in the disease, providing potential early indicators for the onset of CRC. While full genome sequencing for every screening might be cost-prohibitive, the researchers are developing ways to combine key features to maintain accuracy and reduce costs,” Wu said.


Advances in cancer treatment include surgery, chemotherapy and now targeted therapies and immunotherapies, the latter two largely relying on genetic research.
“Identifying specific cancer cell characteristics can lead to more effective treatments, or activating the immune system to recognise and combat cancer cells,” Wu said.
However, he also pointed out that while genomic studies improved understanding of cancer and other diseases, drug development was a long process requiring collaboration between researchers, hospitals and pharmaceutical companies.
In continuing its research on colorectal cancer, with ongoing studies particularly focused on the Chinese population, the team acknowledged that genetic trends might vary between regions.


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Science

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News

China

Insights from collaborative study of genetic material could lead to better early screening for colorectal cancer: genomics firm


Insights gleaned after collaborative study of 1,063 patients’ genetic material could lead to better early screening for colorectal cancer: genomics firm.


Medicine

Disease

Cancer

Artificial intelligence