Friday, October 12, 2012

This Is Really A Whole New Paradigm For Medicine. Astonishing Stuff!

The following appeared a little while ago.

An informatics chief's foray into big data and P4 medicine for personal analytics

October 01, 2012
By David Riley, Chief of informatics, Harris Healthcare Solutions
As a healthcare technologist I spend a lot of time thinking about where healthcare and medicine is headed in order to understand what role technology can play in realizing the envisioned future. For some time now I have been contemplating Dr. Leroy Hood’s P4 vision of medicine, which stands for predictive, preventive, personalized and participatory. In brief, Hood’s P4 vision entails the integration of genetic data with knowledge of how the environment modulates the expression of genes to create the phenotype of health or disease. It is a bold optimistic vision of the future of healthcare that implies data – lots of it.
Intrigued with Hood’s vision – and its ramifications for the future of healthcare IT – I decided to test it on myself. Could P4 help us formulate a go-forward strategy in government healthcare? So I took a nine-month period off work (from July 2011 through March 2012) to educate myself on the constructs of P4 medicine. It was not long before I was introduced to a veritable zoo of new knowledge disciplines most of which ended in “-omics”.  These included genomics, proteomics, transcriptomics, metabolomics/metbanomics, epigenomics, microbiomics, pharmacogenomics, toxicogenomics, nutrigenomics and functional metagenomics in addition to systems biology and functional medicine.  Most of these disciplines seem to have sprung forth since I graduated from medical school in the early 1990s.
As I plowed through journal articles and textbooks on these subjects I also decided to obtain more data on my own genetics. I signed up for 23andMe’s personal genetic service to obtain my personal set of single-nucleotide polymorphism (SNP) data, which covered more than a million data points, and began combing through it to see what new and wondrous things I might discover about myself. When it became available, I also signed up for getting my exome sequenced, which was another 50 million base pairs of data that gave me the part of my genome that codes for proteins. Data like these drive home the concept of biochemical individuality and I gained a greater appreciation of uniqueness and the need for personalization of therapeutic approaches.
While it was interesting I still felt the need to dig more deeply into how to apply what I was learning to a clinical problem to see what difference, if any, all of this could have on an outcome; how it could impact my own healthcare. So I decided to see if what I was learning about my genetics could have a direct impact on the management of my diabetes. For a decade I have been managing my Type 2 diabetes with diet and exercise and have managed to avoid taking oral anti-diabetic drugs or insulin. Shortly before I embarked on this journey into P4 medicine, however, I had experienced an upswing in my hemoglobin A1C (a measure of blood sugar control) that warranted the addition of medications to achieve better control. My doctor and I also had begun discussing whether and when we would need to be adding insulin injections to my treatment regimen. It seemed I had found my high impact target.
Vastly more of the saga here:
This really is a must read article to see just what the possible is becoming. As I read through I am forced to express gratitude to my teachers in medical school in the late 1960’s for bothering to insist on being aware and understanding the then latest science. Much of this basic science seemed unrelated to medicine as she was practiced then but as we now see, to have any hope of understanding what is happening today, we needed that background.
I have no idea at all where this is heading - but assuming the world manages to somehow survive the debt crisis now slowly sinking us - the next 40 years are going to be even more astonishing than the last 40 have been. That is no small claim!
All this is a whole new ball of wax for the idea of e-Health.

1 comment:

Michael Legg said...

Couldn't agree more David! A resource your readers may be interested in is

Informatics is critical to the development of preventive, predictive and personalised medicine and even more important in its application and yet in my view it is only receiving piecemeal attention. Ten years after sequencing the human genome we do not have the knowledge, education or informatics tools to implement clinical genetics, genomics, proteomics, metabolomics or epigenetics into practical personalised medicine. Let alone the people whose training and experience crosses these deep knowledge pockets.

There is a plan to bring together those from the disparate disciplines involved to develop an approach for Australia in the new year. As part of this and supported by genetic pathologists and bioinformaticians, the College of Pathologists has recently established an Advisory Committee in informatics that mirrors those of the more traditional disciplines like biochemistry and haematology.

It is a very exciting time we are entering where the biological and information revolutions are crashing into one another. I came away from a recent conference in St Petersburg that I was asked to contribute to absolutely convinced that there is a paradigmal shift on its way - to P4 is added the most remarkable results from out-patient stem cell therapy - you put them in and they know what is needed - new cartilage in the knee or Islets of Langerhans cells! Truly amazing!!