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Whole genome sequencing expected to be more prominent in medical solutions

Article-Whole genome sequencing expected to be more prominent in medical solutions

WGS can help predict disease by looking at how genes interact, yet it is still perceived as complex.

Whole genome sequencing (WGS) is a game-changer, and it's a matter of when not if it will become involved to a greater extent in medical solutions, said Prof. Dr Arndt Rolfs, CEO and founder of digital healthcare and diagnostics company Arcensus, during his session "Digital changes in personalized medicine based on genomic technologies" on the last day of Arab Health 2022.  

“DNA is the basis of our lives,” he said, explaining it as the blueprint of human beings, helping us to understand what's going on in our body and what can go wrong in our body. “It is the most fascinating story that we are learning in detail to prevent disease”.

WGS is the analysis of the entire genome: coding and non-coding. It is a uniform coverage and detects copy number variables with no limitation in read length. It has a lower coverage required and less artifacts. 

“It is so easy to sequence and analyse total genomic information,” he said. The challenge, however, remains its proper implementation. 

He explained that it is important to take the whole genome into account. 

“If we ignore the diversity of genetic mutations in different populations, pharmaceuticals will go in the wrong direction,” he said, highlighting that while there are many examples of a mutation in a gene that can lead to cancer in people in France, the same is not true for people in Japan. 

He explained that as people sequence full genomic DNA, patients only need to test once. Based on the genomic data, people can learn with updated reports and personalised guidance based on the latest research.

“It's a big industry to improve diagnostics,” he said “DNA will be without any doubt the future in that direction,” he said. 

Whole genome sequencing now affordable

In the last few years WGS has undergone a massive transition, from a rarely used research tool into an approach that has broad application in a clinical and medical setting. Currently, it is transforming the biological knowledge, from rare diseases to cancer and beyond. “We are merging biology and medicine in interpreting information."

WGS, said Dr Rolfs, has successfully resolved the aetiology of a disease for previously undiagnosed conditions, identified cancer driver gene variants, and impacted the understanding of pathophysiology for many diseases.

He said that WGS costs have decreased steadily over the years, reaching an affordable amount today. NGS tests are available, or becoming available, in every major region worldwide. 

Using NGS methods can decipher underlying molecular mechanisms, while bioinformatics and AI can improve and automate clinical analysis, he said.

“We know that 70 per cent of people have specific mutations,” he continued. Genetics is still seen as a complex process, however - the reason it is still not a popular way to understand the human body and predict disease, he said.

WGS' interpretation and proper understanding have been the main barrier to its spread. It begins with millions of raw sequences read for a patient tumour, until pathologists and oncologists evaluate the significance of potentially clinical actionable events, and incorporate their research into patient care. 

“It is not one gene that is the cause. It's the composition and interactions of the genes,” Dr Rolfs explained. In the past this could not be predicted, but now with the genome they can.

TAGS: Gene Therapy
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