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Genome sequencing drives population genomics and precision medicine

Article-Genome sequencing drives population genomics and precision medicine

Scalable, bespoke sequencing solutions for clinical, consumer and research purposes are driving a revolutionary shift toward precision medicine.

We are fortunate to live in an era where the convergence of advanced technology and biology allows us to translate the human genome into data that can accelerate diagnoses and cures.

The promise of the genomic revolution has existed since the first human genome sequencing project. From creating genetically targeted drug treatments, diagnosing rare diseases, detecting cancers early, and developing mRNA vaccines, like the one used to combat COVID-19, sequencing the gene is the future of healthcare.

Genome sequencing benefits

Advanced genome sequencing technologies uncover personalised pathways of cures for affected patients worldwide, enabling doctors and researchers to predict prevention strategies for a particular disease for every individual.

In the ever-evolving world of healthcare, precision medicine aims to tailor the right treatment for the right patient at the right time by using innovations such as biomarkers, targeted therapies, and data.

Every living organism has a specific genetic code, or genome, that serves as a DNA fingerprint. By sequencing the genome, we can transform the traditional healthcare paradigm as we move away from the one-size-fits-all model.

In the Middle East, there is a growing prevalence of non-communicable diseases including diabetes and cancer that are responsible for 77 per cent of all fatalities in the UAE and have a higher-than-average occurrence at seven per cent of the population compared to the global average of two to six per cent.

Now more than ever, understanding and treatment of rare and oncology diseases are set to benefit significantly from genomic data. Patients get treatment tailored to their genetic makeup, with a greater chance of success, delivering value to the entire healthcare ecosystem.

Genome sequencing methods

To provide insights and facilitate early diagnosis and treatment of cancer, rare and metabolic diseases, and other genetic conditions in the region, Biogenix Labs, for instance, have over 250 comprehensive clinical genetic testing panels that use state-of-the-art sequencing technologies with the shortest turnaround time.

Sequencing as a service solution also profoundly impacts population genome programmes, drug development, research, and health systems worldwide. The Omics Centre of Excellence in Masdar City, on the other hand, has a sequencing capability of over 500,000 WGS samples per year with a quick turnaround time, leveraging the power of three world-leading sequencing platforms.

Translating biological samples into high-quality genomic sequencing and proteomics data is a challenge in developing countries that need the right technical know-how, sample processing infrastructure, and access to talent.

To globalise sequencing, G42 Healthcare partnered with Amazon Web Services, which ensures quick and efficient global data storage and transfer to clients anywhere at any time. It enables access to best-in-class multi-omics technologies to sample rich but resource-poor, underserved territories such as Africa.

Scalable, bespoke sequencing solutions for clinical, consumer and research purposes are driving a revolutionary shift toward precision medicine, where the data is being used in population genomic programmes, identification of novel drug targets in clinical trials, in research, and serve the biopharma and biotech industry.

The strategic partnership with AWS accelerates time to insights and helps deliver at scale yet with agility. The collaboration will now mean that governments, research institutes, pharma, and biobanks worldwide can partner with G42 Healthcare and their globally leading Omics infrastructure seamlessly.

Data has the potential to optimise future health outcomes. By democratising data, meaningful information is being put into the hands of governments, scientific researchers, and physicians; this is fundamental to driving change.

The UAE is among a few countries in the MENA region that is adopting modern and innovative healthcare approaches. We are glad to be operating in such an ecosystem where we have used advanced sequencing capabilities to facilitate the Emirati Genome Program. Our scale and advanced sequencing technology are expected to produce a reference genome specific to UAE citizens and aid in the prevention and treatment of chronic diseases.

To strengthen clinical genomics, G42 Healthcare partnered with Swiss precision medicine company Saphetor’s VarSome bioinformatics platform and with leading US-based diagnostics, genomics, and biotech company ProPhase Labs.

Partnerships like these enable and expand the scale and scope of best-in-class sequencing as a service offering. We hope this will strengthen efforts to reinforce UAE’s reputation as the regional innovation hub in healthcare and life sciences.

Beyond genomics, the partnership with SomaLogic, a leader in data-driven proteomics technology, will bring world-class proteomics to the region, a significant step to providing multi-omics in the region and beyond.

As healthcare moves towards prevention rather than cure, genomics puts the patient rather than the disease at the centre. It promises to revolutionise people’s ideas of healthcare and the disease itself.

Dr. Fahed Al Marzooqi.jpg

Dr. Fahed Al Marzooqi is the Chief Operating Officer, G42 Healthcare

This article appears in the latest issue of Omnia Health Magazine. Read the full issue online today.

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