Since the sequencing of the first human genome in 2000, the global health sector is awaiting in anticipation of technological advances to allow it screen people for previously hidden disease risks and develop personalised treatments that can help them live longer and healthier lives.

According to a whitepaper by Oracle Health Sciences, between 100 million and two billion human genomes will be sequenced by 2025, enabling healthcare providers to usher in a revolution in public healthcare systems across the globe. This can be made possible on the back of integration of individuals genomic knowledge to simplify biomarker discovery and create precise treatment plans for targeted populations.


Healthcare experts say that drivers of precision medicine would be quality patient care, improved quality of life and reduced cost of treatment. Studies have already shown that if treatment strategy is based on patients molecular profile it leads to an improved treatment adherence. Similarly, treatment decisions based on genetic test results, rather than guess work, lead to huge annual pharmacy cost savings for patients.

For pharmaceutical industry and academic research centers, the global genome editing market opportunity is expected to be $3.5 billion by 2019, according to Oracle whitepaper.

The realisation of precision medicines promise, however, would depend on close coordinated efforts between researchers, molecular pathologists and clinicians using powerful informatics tools to push healthcare to the next level.


The practices of each of the three groups are highly interrelated. The researchers discovery of a clinically actionable biomarker influences the molecular pathologists interpretation of a patients molecular profile and, this in turn, influences the clinicians decision in treatment planning. The circle completes with the outcome of a treatment decision providing researchers with new research material to create innovative ideas.

However, among the challenges that remain to be resolved include the current knowledge sharing methodology that is time consuming and wastage of valuable resources. Moreover, the validation of the preliminary findings presented at conferences often stalls at the conference stage itself.

Secondly, no single standard of genomic nomenclature for researchers, molecular pathologists and clinicians is a big problem that needs to be resolved urgently to overcome communication challenges between all the three groups.

The field of genomics has been dominated by researchers in the US and Europe since the beginning, but Asia is slowly catching up. China has already taken a lead in this space. Under its recently launched precision medicine initiative, as much as $9 billion in expected to be spent over the next 15 years for the development of this field. In contrast, the US launched similar initiative in 2015 with a spending budget of $215 million, which now faces uncertain future under the Trump administration.

Japan and Singapore are among other hotspots for genomics in Asia. India, too, in its Budget for FY 2017-18 allocated nearly $280 million to the Department of Biotechnology (DBT) — a 12 per cent rise on the previous year, which indicates increased focus on the National Biotechnology Development Strategy, unveiled last December, to upgrade the country’s capability in genomics — the next frontier for innovation in the healthcare industry.


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Tags: ehealth news

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