Gene technology an increasing focus

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Advances in DNA sequencing, tissue engineering, cellular reprogramming and gene editing could make it possible to accurately predict an individual's risk of disease or better target treatment at an existing disease.

Global pharmaceutical companies are more readily recognising the value of early research and development in gene technology.

This week, Merck's biopharmaceutical business EMD Serono announced a collaboration with Nebula Genomics, a US-based start-up gene sequencing company.

Nebula has been seeking partnerships to fund more comprehensive accurate genome sequencing at no cost to the patient in order to build up a "DNA database".

The collaboration with Merck means the company will conduct free personalised whole-genome sequencing on people with inherited disease, rare disease and cancer. The purpose is to identify particular genes or gene products that are the underlying cause of a disease.

Scientists from Merck will use Nebula’s database of genomic data to better understand the causes of disease and develop potential new therapies.

"If a particular DNA variant seems to be associated with, say, epilepsy, that gene or its downstream products might be a drug target," said Nebula's chief scientific officer Dennis Grishin.

The pilot program sponsored by Merck will initially focus on high coverage genome sequencing for people who have had or currently have lung cancer. 

Merck said it hopes “to generate big data for comprehensive molecular characterization of patients” and use it to develop “a deeper understanding of diseases.”

It is unclear how much data scientists will need to reliably link a particular gene to the cause of disease and potential therapy. Yet this is an exciting area of research with great potential to develop and deliver targeted therapies.

An added bonus is that patients will also have access to their own data under the scheme using blockchain technology.

Nebula said, "We will give patients full access to their genomic data so that it can potentially be used to make better treatment choices."

It added that it also focused on the gene sequencing of healthy individuals as a way to better understand genetic markers or predispositions to disease. They are yet to secure investors for this research.

Global pharmaceutical and biotechnology companies are already supporting this type of research.

Regeneron, AbbVie, Alnylam, AstraZeneca, Biogen and Pfizer have already supported the genotyping of 500,000 individuals through the funding of UK Biobank. It is a charitable health resource established in 2006.

Gene research and data analytics and therapy have the transformational potential for people with cancer, rare and inherited diseases. Tailored personalised approaches will allow prevention, diagnosis and treatment specific to an individual's genetic make-up. 

This has the potential to turn the population level approach of conventional medicines on its head.

Dr Amanda Ruth