Machine Learning and Human Biology

A New Epoch of Human Health and Wellness

Understanding we have entered a new epoch in understanding biology is critical.

In 2019, I had a front seat into how patterns of DNA methylation at over 800,000 CpG sites along the human epigenome could be correlated to 131 traditional clinical assays used to assess individual health and wellness in 1,100 individuals. Understanding how new data science software tools are changing the face of medical science is critical to having a perspective on why this new epoch is occurring.

The opportunity to apply the automated machine learning software has fundamentally changed our ability to obtain far-reaching conclusions about the molecular functions of human biology. I understand that without modern machine learning software tools, gaining the molecular biological insights is next-to impossible task. I observed that the results we can now obtain from low cost micro-array sequencing technology and machine learning, hold the promise to change the course of our understandings of human biology.

The genetic revolution in medicine is under way.

Francis Collins at the 109th Shattuck Lecture to the Annual Meeting of the Massachusetts Medical Society, Boston, May 8, 1999

Rosey statements of how transformational change in precision diagnostic and therapeutic health will occur since the decoding the human genome in 2003 have so far been less than prescient. However, this time is different. Why? Two reasons:

  • First, the maturation of DNA sequencing platform technologies capable of producing troves of genomic and epigenomic data at low costs; and
  • Second, the emergence of AI and bioinformatic tools that are capable of analyzing the troves of genomic and epigenomic data are now available.

When the first human genome was sequenced in 2003, it took over a decade and cost $3B to complete. Today, a genome can be sequenced in a day at a cost of under $1,000. And with the introduction of new automated machine learning tools, there is a clear case to see why the observation that “this time is different” is in fact true.

In a recent essay by Dr. Doug Cole, someone use education and experience is well qualified to make such a prognostication, he calls this new epoch “The Biological Century.” The essay is an amazing piece that elegantly foretells what the future of precision medicine holds for all of us.

The fact is, transformational change is upon us, and it is certain to unleash a new epoch in precision medicine. Very soon, prescribing the chemotherapy drug Doxorubicin after the discovery of a grapefruit-size tumor in your lower intestine will look barbaric. Cancer is at work inside our bodies long before it emerges in the form of a tumor that blocks our bowels, or causes recognizable pain, that leads to an MRI or biopsy and the awful diagnosis that follows. 

Cancer is cellular function gone awry. Seeing cancer in its native molecular form when genetic or epigenetic mechanisms malfunction is the focus of precision diagnostics. Correcting molecular cellular function by modifying genetic or epigenetic mechanisms is the focus of precision medicine. Together, these two disciplines encompass precision medicine and are all but certain to change the course of human health and wellness in a new epoch called The Biological Century.