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Two decades after the completion of the Human Genome Project, a 13-year international effort to discover the complete set of human genes and make them accessible for further biological study, biomedicine is now entering a new uncharted territory. Today, genetic mutations can be reversed thanks to genome editing technologies. Back in 2014, clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated (Cas) proteins were primarily viewed as research tools. While their medical potential was evident, the prospect of translating them into actual treatments seemed somewhat distant. Today, the technology, which is often compared to “molecular scissors” that can make targeted cuts in DNA, is employed in over 20 clinical trials that span blood disorders, diabetes, cardiovascular diseases, immune disorders, and other rare disorders.

2023, a milestone year for gene editing
For genome editing, 2023 will be remembered as the year during that the FDA approved the first-ever CRISPR treatment in the US. Only 11 years after Jennifer Doudna and Emmanuelle Charpentier first described the game-changing technology in a scientific paper, the FDA gave its green light to Vertex and CRISPR Therapeutics’ Casvergy to treat sickle cell disease. This approval sparked a wave of innovation in the first half of 2024, with scientists now working on improving the delivery to make the technology more accessible. Keeping sickle cell disease as an example, Vertex highlighted the complexities of transferring the treatment to Africa, as the regimen involves a hospital stay, with doctors removing the bone marrow, editing the cells, and then transplanting them back.

Recent months also saw a collaborative impetus amongst big pharma and technology companies to democratize gene editing. In 2022, technology leader Illumina and Nashville Bioscences launched a ground-breaking “Alliance for Genomic Discovery” aiming to accelerate the development of therapeutics through large-scale genomics and the establishment of a preeminent clinical genomic resource. As of 2024, eight of the pharma heavyweights – AbbVie, Amgen, AstraZeneca, Bayer Bristol Myers Squibb (BMS), GSK, Merck, and Novo Nordisk – have agreed to collaborate in the generation of 250,000 whole-genomes for discovery purposes. Ashley Van Zeeland, VP corporate and business development at Illumina, explained: “We are increasingly seeing companies deeply incorporating genomics throughout multiple, different, aspects of their business – from research and discovery applications through diagnostic and therapeutic development. Genomics is integral to delivering on the promise of precision medicine.”

Bioethical and investment considerations
While the history of cloning goes back to 1885, with the first-ever demonstration of artificial embryo twinning, several failed experiments on humans in the early 2000s raised alarm bells in the scientific community. In 2005, amongst fears that cloning could be used to create “altered” humans, the UN became involved and passed a nonbinding Declaration on Human Cloning that called upon member states “to adopt all measures necessary to prohibit all forms of human cloning inasmuch as they are incompatible with human dignity and the protection of human life.” Today, the possibility of eliminating certain disabilities and perceived shortcomings teeters on the edge of what society deems ethically permissible.

Now that gene editing technology has formally been approved and brought to market, humanity is undoubtedly transcending into a revolutionary phase. The specter of creating “designer babies” and concerns about diversity, equality, and the morality of gene editing, have not however deterred entrepreneurs, scientists, and investors in this space. According to EY figures, the genome-editing market is poised to reach US$11.2 billion by 2025, and has enjoyed a double-digit growth trajectory for the past five years. Like other areas, venture capital investment in gene editing fell in 2023 – from US$2.4 billion in 2022 to US$1.06 billion – with early-stage investors finding the technology attractive but finding that the barrier to entry is higher than with others, as it requires impeccable efficiency to be efficient.

Humanities and AI intersecting
Ethical considerations have outgrown the genome to question an artificial intelligence’s ability to surpass a human one. For the life sciences industry going forward, the intersection of artificial intelligence and humanities – in other words, the union of AI and “I” – has the potential to be nothing short of revolutionary.

In recent months, AI has become a useful tool in identifying genetic mutations. More than AI “taking over” and doing the gene-editing itself, the business case for this technology lies in its ability to process vast amounts of data. Indeed, AI models can scrutinize genomic, gene expression, and epigenetic information for the detection of genetic mutations and their potential implications. This approach presents numerous benefits when compared to conventional techniques, such as heightened precision, streamlined analysis processes, the revelation of novel mutations, the facilitation of personalized medicine through amalgamation with clinical data, and the exploration of biomarkers. Lauren Linton, founding leader of the Human Genome Project and executive director at UC Santa Cruz’s Genomics Institute, said: “The ability of an artificial mind to process billions of data points is starting to exceed the human ability to compete. AI should be able to help with the integration and understanding of these complex data sets.”

The coming months will determine what the next frontier in genomics will look like. With the first therapy having been brought to market, and with AI now advancing personalized medicine by analyzing genomic data, questions such as “Are we messing with Mother Nature?” or “Is Science going too far?” will undoubtedly continue fascinating the public realm. For life sciences investors, entrepreneurs, and scientists alike, there remains little doubt that the gene editing revolution is underway and that the approval of Casvegy paved the way for new technologies to emerge.