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n of 1 medicine

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The history of modern medicine begins around late 18th century with Edward Jenner’s discovery of smallpox vaccine and Humphrey Davy’s discovery of nitrous oxide, whose anesthetic properties proved very useful for making surgeries painless. Since then medicine has made tremendous strides in eradicating major diseases like smallpox, polio, malaria, cholera, and tuberculosis, in most parts of the world. Indeed, the list is long and impressive. Because of these advances, mortality rates have gone down significantly across the globe with a concomitant increase in life expectancy.

Western or allopathic medicine,  as currently practiced, treats the average. This approach has been very effective in treating a wide range of conditions – from the common cold to heart attacks, provided the underlying medical condition or disease has a common physiological basis that is broadly applicable across the entire human population. But, over the years, the field of medicine has discovered there are numerous diseases that have a genetic basis – examples include cancer, diabetes, cardiovascular, and others such as Tay-Sachs disease, sickle cell anemia, which have an even more specific pedigree. These diseases have yet to be corralled and contained.  Recent advances in microbiology have spawned the -omics revolution: microbiomics, proteomics, genomics, metabolomics, to name a few. In an earlier post – the dawn of omics ,  I had tried to captured some of the excitement surrounding these emerging fields of study.

Numerous articles, on these topics, continue to be written in the popular press. Recently, microbes made the cover page of the Economist and the attendant articles can be found here- Microbes maketh the man ; Me,myself, us. The upshot is we have symbiotic partnerships with multiple strains of bacteria that make their home in different nook and crannies of the body.  Here are some specific examples (quoted from the article) on how these microbiomes help us “….The microbiome does many jobs in exchange for the raw materials and shelter its host provides. One is to feed people more than 10% of their daily calories. These are derived from plant carbohydrates that human enzymes are unable to break down. And not just plant carbohydrates. Mother’s milk contains carbohydrates called glycans which human enzymes cannot digest, but bacterial ones can….”

Disturbing this ecosystem results in a myriad of consequences. So,  “…these links are most visible when they go wrong. A disrupted microbiome has been associated with a lengthening list of problems: obesity and its opposite, malnutrition; diabetes (both type-1 and type-2); atherosclerosis and heart disease; multiple sclerosis; asthma and eczema; liver disease; numerous diseases of the intestines, including bowel cancer; and autism….” Probiotic foods then are supposedly targeted at restoring the balance…” If you missed it, yes, autism is on this list !!

The other branch of -omics that has gained a lot of currency in the media is genomics. The holy grail for these practitioners – $1000 genome (to sequence, that is). Matthew Herper of Forbes has put together a nice summary article( The Gene Machine) on the most recent developments in gene sequencing. One of the characters he mentions is Jonathan Rothberg, probably the reigning rockstar of this industry, for having invented among other things, the Personal Genome Machine (the article has more specifics). But the point here is gene sequencing has moved from the purview of giant labs to your desktop! Also, the turn around times for having a genome sequenced, for a panel of genes, have come down dramatically. Because of these advances, places like Baylor College of Medicine, MD Anderson and others are undertaking vigorous research efforts to understand and actively treat various cancers.

I was lucky enough to attend a few sessions over two days at the ION World 2012 conference where Rothberg and other luminaries gave keynote speeches. It was really exciting to hear these folks talk of the coming revolution in medicine. This is when I first heard the phrase “n of 1 medicine”.  N of 1 (or personalized medicine)  refers to the practice of medicine based on an individual’s “omic profile” as opposed to the traditional approach of medicine, which is based on the average profile (derived from large populations).

Clearly, we are witnessing medicine’s new frontier. For me, and I am sure for many others, the view from this frontier is breathtaking. Of course, there is a lot of hype surrounding all this. But discounting the hype, there is significant and steady progress being made through multidisciplinary collaborative efforts (cloud computing, bioinformatics, semiconductor technologies, and fundamental science). As of now, next generation sequencing (NGS) efforts are primarily focused on building the tools that allow us to ask the basic questions and get answers in the shortest possible time. Once past this, we will need to focus on translating the science into clinical practice. Because of its very nature, n of 1 medicine may require a throwback to the old fashioned pharmacies where your medication will be mixed in real time based on personalized omit profiling.

Opportunities, to participate in this revolution, abound.

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Written by asterix98

September 30, 2012 at 2:49 am

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