FEATURE: Raconteur – Why genome sequencing is the future of healthcare

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Healthcare companies are developing technology which utilises the power of artificial intelligence to analyse genomic data and provide personalised treatment for cancer patients 

A genome is the body’s instruction manual. It’s made of DNA and there is a copy in almost every cell.

Through genome sequencing and genomics, clinicians can better understand how cancer cells might evolve and what treatments will be most responsive, known as precision and personalised medicine.

Furthermore, genomics combined with technologies such as machine-learning and artificial intelligence (AI) has huge, as yet untapped, potential for determining a healthy person’s future risk of cancer.

New government goals for genome sequencing 

To sequence the first genome cost $3 billion and took 13 years. But today, Illumina, the NHS’s technology partner, can do it for a comparatively mere $1,000, a price drop that is driving innovation in the field.

Building on its groundbreaking Genomics England initiative to sequence 100,000 genomes, earlier in the year the UK government announced a new Genomic Medicine Service is being rolled out for children and adults with rare diseases and some types of cancer, so doctors can provide more personalised treatment.

Health secretary Matt Hancock said recently the aspiration is to sequence five million genomes over the next five years.

“Genome sequencing means we can get all the information needed from one test, whereas previously several were required,” says Professor Trevor Graham from the Barts Cancer Institute at Queen Mary University of London.

He is conducting early-stage research funded by Cancer Research UK using computers, mathematical modelling and genetic data to piece together a cancer’s history to predict how tumours evolve.

Using new tech to make genome data accurate

To derive insights from the huge amount of information a sequenced genome produces, clinicians are seeking help from advanced data science techniques.

For example, SOPHiA GENETICS’ SOPHiA AI software-as-a-service (SaaS) platform uses algorithmic technology to make genomic data more accuratefor diagnostics by cleaning and standardising it, removing anything that could present bias or false results, which is a frequent problem. It then highlights variances in the data that could be causing the cancer and provides treatment suggestions.

“It is up to the clinician to make the final diagnosis about pathogenicity and treatment, but SOPHiA can provide a prediction, as well as identify specific treatments on the market and even link patients to potential ongoing or upcoming drug discovery trials,” explains Iole Pezzuto, scientific communication specialist at the company.

The technology is used in 800 hospitals worldwide for hereditary disorders, including cancer, and oncology for both solid tumour and haematological disorders. In September, it opened a US headquarters.