What is… genomics?

A monthly tech explainer series about the technology shaping our world today, from the Garage.

By Jeff Wise — February 15, 2023

In the 70 years since Francis Crick and James Watson cracked the secret of DNA, scientists have not only managed to decode all 20,000 genes that make up the human genome, but also to decipher the genomes of many other living things. The study of how these genes function, evolve, and interact — genomics — promises to revolutionize the biological sciences. From shedding light on our origins to ushering in powerful new weapons against disease, genomics is a transformative area of technology, worth an estimated $54 billion worldwide by 2025 and $96 billion by 2030.

How it works

At first scientists sequenced genes “by hand,” chemically cutting DNA strands apart and deciphering the fragments one by one. Today, machines called sequencers do this automatically, decoding billions of genetic letters a day. The process of decoding a person’s entire genome, about three billion genetic letters, only requires a few milliliters of blood and takes about a day. This kind of analysis, which is commonly done for patients who have certain kinds of cancer or rare, difficult-to-diagnose diseases, is different from that offered by companies like 23andMe, which focuses on a subset of genes that are useful in distinguishing human population groups. 

Eric Chow

The a-ha moment

In the 1990s, the US government funded the Human Genome Project, a 13-year-long moonshot initiative that produced the first complete human genome. In its wake, DNA sequencing technology quickly improved such that a whole genome can be run in as little as five hours. The genomes of more than 3,000 animal species have already been sequenced, and an effort is underway to sequence the genomes of all the known cellular species, of which there are nearly 2 million. The sheer accumulation of data allows scientists to explore the world in a whole new way. Ecologists, for instance, can identify all the different species inhabiting a biome from a single soil sample.

What it means for everyday life

When you collect a broad enough array of genetic information, new kinds of insights begin to emerge. People can compare their genomes to those stored on ancestry websites to trace their family origins, for instance; law enforcement investigators can compare crime-scene DNA with ancestry databases to identify murder victims and perpetrators. Genomics will help scientists make crops more productive and disease-resistant and, down the road, could even be used to resurrect extinct species. Perhaps the greatest impact, however, will come in medicine. Already oncologists can now compare the genome of a tumor cell with that of a patient’s healthy genome to pinpoint just what kind of mutation they’re dealing with, allowing them to make a more precise cancer diagnosis and provide more effective treatment. HP developed two life sciences instruments that genomics researchers are using today: the D100 Single Cell Dispenser and the D300 Digital Dispenser.

How it might change the world

It cost $2.7 billion to sequence the first human genome; today, the procedure will set you back about $600 on average, but that cost is likely to decrease. San Jose, California-based Complete Genomics said earlier this year it developed a high-throughput sequencer that can push through some 50,000 human genomes at max capacity for as little as $100. As gene sequencing continues to fall in price it will become accessible to an ever-greater share of the population, hopefully making global healthcare more equitable. Care givers around the world will be able to quickly diagnose illnesses, while drug makers will fine-tune medicines to specific patients’ maladies. It could lead to the eradication of genetic-based diseases and congenital disorders. With the advent of CRISPR gene-editing technology, it will even become possible to go into the human body and reverse genetic disorders like cystic fibrosis and sickle-cell anemia. Robust work in bioethics is happening in parellel to these newfound technical advances to help us not only determine what we can do, but also what we should do when it comes to messing with the blueprint of living beings. And longer term, perhaps we'll work toward a healthier future with greater longevity for humankind.


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