By Bertrand Beauté

Our vocabulary expanded considerably in 2020. We now talk about PCR tests, sequencing and messenger RNA over family dinners, as if this scientific terminology were part of everyday language – all thanks to the coronavirus. We have also begun discussing genetics. Although this change could initially appear to be due to the current situation and expected to soon pass, it actually reflects a more profound shift. Genetics, a subject which has long been confined to specialised laboratories, is starting to move beyond the science world and become part of our daily lives.

"Genetics is playing an increasingly important role in medicine. It’s a rapidly expanding field," says Professor Marc Abramowicz, head of the Genetic Medicine division at Geneva University Hospitals (HUG) and director of the Centre for Genetic Medicine. "Approximately 5% of the population has a genetic disease, and often doesn’t know it. That’s really high, affecting 400,000 people in Switzerland."

And medicine is far from being the only domain affected by genetics: "Since DNA is present in all organisms – both plants and animals – there are many applications for genetic engineering, particularly in farming and the seed industry," says Hervé Chneiweiss, chairman of the Ethics Committee at France’s health research organisation Inserm [Institut national de la santé et de la recherche médical]. "It’s not a niche market. In fact, it’s worth hundreds of billions of dollars."

And the impacts of this trend have been felt on the stock market: in 2020, ARK Genomic Revolution – an ETF from asset management firm ARK Invest that includes about 50 genetic engineering stocks – increased 180%, whereas the NASDAQ rose by 43% over the same period. This increase could continue, since the potential of these technologies seems limitless. For evidence, look no further than the internet. In just a few clicks, you can order a DNA analysis kit that reveals your genealogical origins or predispositions to diseases, or even how to improve your athletic performance.

Technological advances have made genetics accessible to everyone

Élise, a student in Zurich, has first-hand experience. In November 2020, she took advantage of a deal on the site MyHeritage and ordered a genealogical DNA test for about 50 Swiss francs. "I am Swiss, but I have mixed European and South American heritage," she says. "I wanted to understand the biological components of my identity."

Can a DNA analysis give you a better understanding of yourself? Not long ago, this was strictly the stuff of science fiction. But technological advances have made genetics accessible to everyone. In 2001, reading the entire human genome – a process called sequencing – cost $100 million and took months. Today, the latest machines can complete the same operation in just a few hours, for less than $700.

Since the start of the pandemic, sequencing has become extremely important because it can be used to track variants of the SARS‑CoV‑2 virus. But it also has potential in human medicine. Studying the human genome has made it possible to detect small changes that play a role in the origin or development of diseases.

In 30 years, mutations in nearly 4,000 genes were linked in varying degrees to more than 7,300 diseases, according to figures from HUG. This number will only continue to grow, as scientists are able to identify 200 genes each year whose mutations are linked to a pathology. "We can now diagnose hundreds of genetic diseases," says Abramowicz. "Sequencing has become a common medical test."

But reading the entire genome is often not necessary in medicine. For the simplest pathologies that only involve a few very precise mutations, companies have developed low-cost tests that only analyse a specific part of the genome. In 1996, US company Myriad Genetics launched the first test to determine predisposition to breast and ovarian cancer, and it is one of the most prescribed tests in the world today. "The simple, lucrative tests never made it to the public sector but instead fell into the hands of private laboratories," says Abramowicz. "Conversely, hospitals still handle the more advanced analyses that require sequencing a large part of the genome and cost CHF 5,000 to 6,000 per patient."

According to Global Market Insights, the global medical genetic testing market, which was virtually non-existent 20 years ago, was worth over $13 billion in 2019, and is expected to grow to more than $28.5 billion by 2026. This potential has not gone unnoticed by companies that are more interested in lucrative business than patient health. Founded in 2006 by Anne Wojcicki (the former spouse of a Google co-founder), 23andMe was the first company to sell DNA tests directly to consumers without a prescription. Health is just one of the product areas being explored by 23andMe, which focuses primarily on genealogical testing.

And it is not alone: MyHeritage, Ancestry, FamilyTreeDNA are just some of the companies active in the recreational DNA market – a sector that is even attracting investment funds. In August 2020, Blackstone spent $4.7 billion to acquire the site Ancestry.com. Meanwhile, 23andMe is expected to go public soon, through a SPAC – a transaction that would value the company at $3.5 billion. This proves that genetics has become a real business, and DNA is now just another item of data that can be ordered online with a smartphone, read, shared and sold.

Cloud giants are eagerly waiting

The study of the human genome generates a gigantic mass of data, and the quantity doubles each year, according to a study published in the Journal of Informatics in Health and Biomedicine in July 2020. This has caused web giants to take an interest in this particular cloud sector. Google, via its service Cloud Life Sciences, and Amazon, via its platform Amazon Elastic MapReduce (EMR), have developed powerful genome storage and analysis tools that can interpret genetic mutations. They compete with proprietary systems from research labs and hospitals, open-source platforms such as Hail, and services from sequencing pure players such as Illumina and Thermo Fisher Scientific.