Human Genomics Didn’t Fail, The Paradigm Did

At the turn of the century one of the most exciting areas of medical research was the Human Genome Project, a massive scientific undertaking that successfully mapped the entire human genome in 2003. The hope was that by conducting large association studies, researchers could identify the genes that cause various diseases such as cancer, diabetes, heart disease, etc. Once the troublesome gene was identified, pharmacalogical interventions could be developed to reduce or stop the expression of the disease gene, which would end or reverse the progression of the disease.

Unfortunately, very little came from these association studies. Only a few genes were linked to specific diseases, and these proved to only create a predisposition to the disease, not a definite trigger. So far genes can only explain about 5-10% of cancer risk, 10% for type 2 diabetes,[1] and 5% for parkinson’s disease. The “failure” of these studies has lead to the widespread opinion that the study of human genomics has been fruitless.

I see things differently. The fact that these studies found few associations shows that the causes of these diseases are more than likely environmental, not biologically predetermined. That is, certain lifestyles are the most likely underlying causes. We don’t need to worry about “fixing” a “broken” biology. Human beings are not broken by default. I am more and more convinced that the strongest factors in determining disease risk are an industrial, Neolithic diet and a sedentary lifestyle. We only need to leave behind our bad habits.

We don’t need new “miracle” drugs to come along and save us from ourselves. We need to give up the modern, culturally-reinforced behaviors that underly diseases of civilization. That’s something we can do now, on our own, without the need of decades-long research projects and billion dollar, blockbuster drugs.

References

1. Herder C, Roden M. Genetics of type 2 diabetes: pathophysiologic and clinical relevance. Eur J Clin Invest. 2011 Jun;41(6):679-92. doi: 10.1111/j.1365-2362.2010.02454.x. Epub 2010 Dec 30. Review. PubMed PMID: 21198561.

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