Helmy Eltoukhy is Chairman and Co-CEO of a leading precision oncology company. guardian health.

$1,000 Genome. Much was promised when the scientific community reached this significant milestone. Every newborn baby will be sequenced at birth, humanity’s diseases will be solved, and unimaginable longevity will be within our grasp.

Although that milestone has passed, humans still struggle with many common diseases just as they did thousands of years ago. So what went wrong? Even with the promise of genome sequencing, what hurdles should those in the diagnostics industry consider?

Evolution of genome sequencing

I started my career in genomics back in 2000, when the first human genome was sequenced. At the time, deciphering it cost an estimated $1 billion. The science was promising, but the cost was unaffordable. I participated in various research initiatives funded by the National Institutes of Health to achieve $100,000 per genome, then $1,000 per genome, and then worked on advanced versions of genome sequencers.

Many of us, myself included, overestimated the value of sequencing the genome itself. Sequencing the genome itself means deciphering the sequence of her four letters (A, C, G, T) that make up her 3 billion character long word that is unique to an individual. genome.

The same 3 billion letters are present in nearly every cell in the human body, all 37 trillion cells. Don’t get me wrong. The ability to read the genome is a powerful tool, leading to solutions for rare and genetic diseases, better cancer treatments, and the ability to fight infectious diseases with vaccines and develop more powerful medicines. However, cures for many other common diseases remain elusive, including diabetes, inflammatory diseases, neurodegenerative diseases, and various cardiovascular diseases. In reality, many of these diseases do not change the sequence of letters in the genome, as is the case with cancer and many rare diseases.

A new frontier in disease detection

I think one important reason why DNA sequencing hasn’t been the panacea we hoped for is that traditional sequencing didn’t recognize another very important feature of the genome. . This feature answers a common question: “If all cells in the body have the same genome, why do liver cells look different than skin cells or eye cells?”

The reason is that those 3 billion characters code for more than 20,000 genes, some of which have markers or switches that determine which genes are off or on within each cell. . The state of these switches determines the functionality of the cell, its appearance and behavior. This is called the epigenome. It has also been found that nearly all diseases leave a strong imprint on the epigenome of affected cells.

It turns out that by tracking the collective state of these switches in the blood, we can detect deadly conditions like cancer early. Detecting the epigenome in blood is extremely powerful for early cancer detection, but its usefulness may be just the beginning. Routine sequencing of cell-free epigenomes in blood will unlock the ability to detect many other diseases early, almost certainly inflammatory and liver diseases, cardiovascular diseases, and perhaps even neurodegenerative diseases. I believe it is possible. Being able to quantitatively detect and track such diseases through simple blood tests could dramatically improve our ability to treat them.

Points to note with new healthcare technology

The future looks brighter as the cost of analyzing the billions of markers in our blood moves closer to zero than $1,000.

So what do we do with this flood of information? Clearly, this is an exciting time for the diagnostics industry, but there are some things to be aware of.

1. Prioritize practicality over information

Just as the discovery of new biological data does not mean a solution to a disease, inventing a new shovel does not automatically mean that gold has been found. The ability to sequence the human genome at low cost has spawned many start-ups, but they have all but died out due to a lack of actionable data.

2. Business model innovation often takes precedence over technological innovation in the medical field

The healthcare industry is a land of entrenched incumbents, many of whom are fiercely protective of their territory and status quo. This is why healthcare is one of the few industries that still employs faxes and pagers. We need to determine how best to support innovation in a sustainable manner within the constraints of existing systems.

3. Start small by addressing a single area of ​​high unmet need.

Even the world’s largest technology companies have tried and failed to destroy the Goliaths of the healthcare industry. But, like David, one must be humble and start modestly with five smooth stones and reach the goal wisely.

Once a new technology is established and incorporated into a system, the adaptations for use can expand rapidly and eventually become Goliaths.

I think intuitive surgical therapies and immunotherapies such as Keytruda are great examples of starting with a single indication and rapidly reinvesting over time to expand the surgery to serve patients. As another example, my company launched liquid biopsies for patients with advanced cancer, starting with lung cancer and gradually expanding to multiple cancer types.

I think the next decade is going to be really exciting as healthcare entrepreneurs unlock new tools and the amount of data that doctors have at their fingertips during routine office visits will be immeasurable.

In fact, to keep up, doctors will need the healthcare equivalent of today’s exciting genAI technologies, similar to Microsoft’s CoPilot, to help process personal medical data. I believe that in this bright future, we will be able to detect diseases before they are born, if treatment through lifestyle changes and preventive medicine is still possible.

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