A little over a decade ago, the cost of sequencing a human genome – one person’s entire genetic makeup – was approximately $25 million. Today, it is less than $1,000 and by 2024 it could cost as little as $200. Next-generation sequencing (NGS) technologies are turning this process from a rare scientific experiment into a widely available biological resource that can help identify and cure diseases more quickly.

This breakthrough has arrived at a similar time as new, powerful artificial intelligence methods (AI) and CRISPR-Cas9, a new gene-editing technology. Together, these three innovations look set to transform the world of drug development by cutting development timelines, reducing failure rates and increasing returns on research and development (R&D). One report believes it could add $9 trillion to the market capitalisation of therapeutics companies by 2024.

What are DNA sequencing and CRISPR gene editing?

Before we explain how, it’s worth exploring a little science behind the technologies. Sequencing DNA means determining the order of the four chemical building blocks, or bases, that make up the DNA molecule. Humans have approximately 3.2 billion bases of DNA. The sequence reveals the kind of genetic information that is carried in a DNA segment and, crucially, can highlight changes in a gene that may cause disease.

CRISPR-Cas9, commonly known as CRISPR, is a unique technology that can edit parts of the genome by removing, adding or altering parts of the DNA sequence. Ultimately, that could correct genetic defects as well as help treat and prevent the spread of disease.

How can these technologies help biotech R&D?

One of the biggest cost factors for clinical trials in medical research is ensuring you have the right patients. An analysis of clinical-trial data from January 2000 up to April 2019 estimated that only around 12 per cent of drug-development programmes ended in success. Next-generation sequencing can act as a matchmaker between people with particular illnesses (or a genetic predisposition to them) and researchers in related fields. Selection is typically based on data such as age, gender, medical history and current stage of a disease. But that doesn’t always tell the whole story. Vetting participants via NGS could find more patients likely to respond to specific treatments, which would result in fewer failed drugs.

The ability to edit genes could transform our ability to create and deliver therapies. By removing a gene and analysing which functions are affected, researchers can perform ‘knockout screening’ to identify drug targets. They can also take specific genes out of cells, before administering drugs to see if those cells become more sensitive to treatment. In some early clinical trials with CRISPR, scientists are removing cells, editing the DNA and then re-injecting them in an effort to find more effective treatments for cancer and blood disorders.

AI underpins these scientific breakthroughs and is already starting to provide valuable support to clinical trial participation. Natural language processing enables computers to analyse text and speech far quicker than humans. When applied to medical R&D, algorithms can scour doctor’s notes and reports to identify suitable participants for clinical trials. In one recent US pilot study,  IBM’s Watson for Clinical Trial Matching system increased the average monthly enrolment for breast-cancer trials by 80 per cent. AI can also search important sources of information like comparable studies, clinical data and regulatory information to support researchers in the trial design phase.  

Science and ethics: a cautious revolution?

In its report Big Ideas 2020, innovation investor ARK said that over the next five years, these technologies could “catalyse R&D returns not seen since the biotech revolution” of the 1980s and 1990s.

Whether that comes to fruition remains to be seen. For CRISPR, in particular, it is still very early days. Trials are only just beginning and potential, unintended side-effects are not yet fully understood. The technology is also not without controversy: in December 2019, a Chinese doctor was jailed for three years for using it to experiment on human embryos to create the world’s first genome-edited twins. As science advances, so too do ethical debates on how best to use it.