Gene sequencing is moving from the research lab to the clinician’s office. Next generation sequencing (NGS) has made sequencing the human genome far faster and less expensive. These trends are expected to continue in the near future. More than 60 million people worldwide are projected to have their genomes sequenced by 2025.
Next generation sequencing will become available for more patients
The cost of sequencing the human genome dropped from $2.7 billion in 2003, to $300,000 in 2007, to $600 now.
Costs, despite the enormous drop, are still the biggest barrier to using NGS technology more widely. That will soon change. As prices go down, possibly to around $100, more patients will have access, and sequencing will be used more broadly throughout healthcare. Some uses will become routine.
Diagnosing cancer
Next generation sequencing already provides information on mutations in cancerous tumors. One goal is to make the process simple enough that non-specialists can use the sequencing results as diagnostic tools. Eventually, the goal will be to provide NGS sequencing for all cancer patients.
Disease surveillance
NGS is already being used in Covid-19 surveillance to detect the spread of variants. In the future, the technology will be used for the surveillance of other infectious diseases.
Individualized medication
NGS enables clinicians to precisely prescribe medication based on an individual patient’s genetic information. In the future, this will become far more common. NGS may also influence the development of drugs at the outset.
Liquid biopsies
Researchers expect that NGS can be used to perform blood-based cancer tests to provide early detection of cancer within the near future. Estimates of when this will happen range from within the next few years to 10 years, at the outside.
Routine testing
Further into the future, NGS may be used for other routine tests to detect mutations and epigenetic changes as part of regular medical check-ups.
Greater detection of rare genetic disorders
Researchers recently found that whole genome sequencing vastly improves the ability to detect rare genetic disorders.
In the more distant future
Some researchers foresee that gene sequencing may bring drastic changes to our way of life, even heavily modifying Darwinian evolution, as we become increasingly able to manipulate and edit our own genomes.
Sequencing is likely to become ubiquitous. It will be possible to non-invasively sequence every individual before birth — which raises important issues of privacy.
Beyond medicine
Researchers are starting to use NGS to better understand the extinction of animal and plant life at the end of the last ice age. Their method was to analyze the DNA found in different layers of soil, which provided information on life forms through different time periods. Future applications of this knowledge include being better able to preserve biodiversity.
NGS will have a profound effect on our future. In the distant future, it may change the course of human evolution. In the near future, it will improve cancer diagnosis and individualized treatments. Somewhere in-between, it may become available to all and become a common diagnostic tool used at routine medical check-ups. Along the way, we will have to address privacy issues, but overall, there is a huge potential for NGS to vastly improve the ability of clinicians to diagnose and treat disease. Applications beyond medicine are still in their infancy and likely will include some uses that we can’t even imagine yet.