One World Insight Blog | Douglas "Las" Wengell

Ten Years on, the Age of Genomics is one Step Closer to Reality

When the genome was first mapped in 2000, it was thought that we were on the verge of a revolution in medicine. Innovation of course doesn’t always work in a straight line – more like fits and starts, small success and failure. Progress has been made, however.

For the last ten years, researchers, companies and investors bet on the notion that mutations that caused common diseases would themselves be common, so they set out to identify the common mutations in the human population. This is what made headlines in 2000. That meant indexing just a few healthy people – it didn’t really matter, so long as they were human – and comparing a small sector of a person’s individual genome to it.  This was expensive and, more importantly, supposed that the mutations would be easy to find.

The premise was incorrect. The latest findings suggest that common diseases are caused by rare, not common, mutations, such is the genetic lottery of reproduction. (Apparently natural selection weeds out disease-causing mutations before they become common.) The belief now is that the entire genome of patients need to be analyzed to get a complete, integral view. But the problem has been cost. What first cost tens of millions per genome, so complex was the sequencing and so new the technology, has decreased to $25,000 per genome, and at scale could drop below $5,000. (The company behind the testing is Complete Genomics of Mountain View, California.)

The research is still elementary. For example, we most understand single-gene, cause-and-effect diseases. But this research is the gateway to the more common multigene diseases such as cancer.

Customized medicine is coming. It will involve the sequencing of a person’s genome at birth, so that preventive measures can be taken until genetic altering cures can be found; and eventually, medicine that is designed to work with the an individual’s DNA footprint. Stay tuned.  

The Hadron Collider, Our Egyptian Pyramid

After some 16 years and $10 billion, the world’s biggest physics machine, the Hadron Collider, began its mission to study the deepest dimensions of inner space in search of a dark matter, the Higgs boson, or the “God Particle.” But it’s only a theory and this grand, multinational, “One World”  science experiment is setting out to determine its veracity.

 

The accelerator is nothing more than a microscope and a camera – a “nano-micro-scope,” to be exact, to measure the smallest distance and an “ultra-strobo-scope” to capture the briefest moment of time. Protons are whipped to 99 percent the speed of light around a 17-mile underground magnetic track and crashed into each other. What is captured are the supposed elements of the universe one trillionth of a second after the Big Bang. Impressive, mind-bending stuff.

 

Particle colliders get their basis from Einstein’s equation of mass and energy. The more energy the machines can pack into their little fireballs, the farther back in time they can go, closer and closer to the Big Bang, and the smaller and smaller are the things they can see. (The first modern accelerator was the cyclotron, just up the hill from my parents home here in Berkeley, California, built by Ernest Lawrence at the Lawrence Berkeley National Laboratory at UC Berkeley in the 1930s.)

 

The Hadron Collider is the biggest ever built. It is as ambitious and grand as the Egyptian Pyramids and a testimony to our post-Enlightenment quest for truth as defined by scientific discovery rather than mummified superstition.

 

Watch a lecture about the accelerator from one of the most brilliant contemporary physicist, Professor Frank Wilczek of Princeton:

And check out these two cool – even hip and hop – videos:

 

The Coming Age of Personalized Medicine

Since the first sequencing of the human genome in 2000, there’s been a lot of hype surrounding the coming revolution in medicine. Progress is slow. A handful of start-ups have sprung up offering custom DNA mapping – but it has yet to take off.

 

These four companies are the largest, with 23andme co-founded by Anne Wojcicki, the wife of Google’s co-founder Sergey Brin.

 

23and me

https://www.23andme.com/

Navigenics

http://www.navigenics.com/

Decode

http://www.decode.com/

Pathway

http://www.pathway.com/

 

There’s a handful of remaining obstacles, not making it ready for medical school prime time. Here’s why:

• The science is unable to offer meaningful predictions about the risk that a person will get a disease. Say 12% likelihood of developing heart disease. Compared to what?
• It’s still relatively expensive, anywhere from $500 to $2,000. Recreationally, if you have the cash, however, it’s fascinating if not entertaining. 
• The tests only sequences a small portion of the genome, a million “hot” spots where higher correlations have been found among common diseases. But there’s at least three billion spots to examine
• It’s not so simple. Genetic variations can only explain a small part of the risk of getting most diseases. The rest involves still unknown genetic factors or environmental, psycho-social ones.
• Finally, for now at least, in most cases there is little a person can do to act on the information

 The most success has been around carrier testing – prospective parents wanting to know if they harbor mutations that could result in their children developing inherited diseases such as Tay-Sachs – or learning more about your ancestor’s migration and geographic patterns.

 

To make the tests more useful, the companies are adding more practical “so what” information. Others are targeting MDs rather than the public. 

 

As the cost of reading DNA continues to fall, and as scientists gain a better understanding of the link between genes, disease and medicine, analyzing people’s genetic make-ups will one day, I predict, become an integral part of health care.

 

In the meantime, vitamins and exercise may have to do.