The fast paced progress in the field of genomics over the past quarter-century have resulted in considerable advances in generating amount of genomic data available with considerably reduced cost of genome sequencing/genotyping and thus it will improve diagnosis and disease management capabilities.

The underlying costs associated with different methods and strategies for sequencing genomes is of significance as they influence the scope and scale of all genomics research projects. These projects will then translate into genomics based diagnosis and disease management. With the increasing scale of human genetics studies and the growing number of clinical applications for genome sequencing, cost of genome sequencing is an important consideration.

“Since innovation in genome-sequencing technologies and strategies will continue to advance, one can readily expect continuous lowering in the cost for human genome sequencing. The key factors to consider when assessing the 'value' associated with an estimated cost for generating a human genome sequence - in particular, the amount of the genome (whole versus exome), quality, and associated data analysis (if any) - will be expected to remain the same.

With software and flowcell advances on existing population scale DNA-sequencing platforms anticipated in the coming years, the nature of the generated sequence data and the associated costs will likely continue to be dynamic. As such, continued attention will need to be paid to the way in which the costs associated with genome sequencing are calculated not just from a sequencing perspective but more holistically from collection to interpretation,” said Praveen Gupta, managing director, Premas Life Sciences, a specialized life science distribution company.

Premas in collaboration with IncellDx, Inc, has recently introduced new cervical cancer screening tool “IncellDx HPV Oncotect 3Dx in India.

The time is not too far away when most patients entering the healthcare system will have their genome sequenced before clinical assessment.

“For that reason, the composition of genetic testing will be vitally transformed to focus on analysis of genomic data in the context of an individual, their immediate and long-term needs, their personal choices and their environment. This will not be an overnight revolution, as it will be some time before emergent bioinformatics solutions for interpreting genomic data are able to straddle both high quality and low cost. Once such solutions gain wider traction, high-quality healthcare will become more accessible to a wider population,” further added Praveen Gupta.

The genetic testing plays a crucial role in improving treatment outcome in non-communicable diseases (NCDs) such as cancer, heart disorders and diabetes. It also enables early and accurate diagnosis of disease risk and occurrence and guides prevention and personalised medical intervention.

Around 61 per cent of deaths in India are attributed to non-communicable diseases, including heart disorders, cancer and diabetes, according to data released by World Health Organisation in 2017. Almost 23 per cent are at risk of premature death due to such diseases. In India, a total of 58,17,000 deaths were estimated from diseases like cancer, diabetes and heart problems in 2016, WHO data added.