A true reflection of the human spirit

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The author, at the Great Wall of China.

On the 8th of December 2011, I was invited to represent Kuwait at the Human Variome Project (HVP) meeting, being held for the first time in Beijing, China. The meeting was a result of many months of negotiation and the finalization of a historic partnership agreement between China and the Project.

HVP is an international consortium of researchers and clinicians, and later UNESCO representatives from more than 30 countries.  It formally inaugurated in 2006 in Melbourne, Australia, with the major goal of documenting (and placing in a database) all polymorphisms and mutations in human sequences, as well as associate these with human health and diseases. This ensures that global information on genetic variation is collected, curated, interpreted and shared freely and openly.

I want to stress the words “openly” and “freely,” because for a scientist this is the best way to share data. For an entrepreneur, though, this is a waste of effort, growth, and potential income, if not secured first by patenting.

Let me explain the problem. There is no doubt that the HVP will uncover thousands of DNA changes associated with disease predisposition and outcome, and they will be useful for disease diagnosis, prognosis and theranostics.  For example, yesterday I found a base substitution in the MLH1 gene of an Arab patient with hereditary non-polyposis colorectal cancer (HNPCC). The genetic change was non-synonymous (meaning it changed the amino acid composition of the MLH1 protein from proline to serine). The DNA change may have altered the protein function, predisposing the individual to cancer. However, one really cannot tell for sure because it can be a polymorphism found in the normal population.  One of the major aims of the HVP is to stratify these DNA changes into polymorphisms or disease causing mutations.

This is achieved for HNPCC by the Insight group, one of many databases curated for the HVP.  Now that federal appeals court ruled that genes (or more accurately, DNA sequences) can be patented, overturning a lower court decision by Judge Sweet, biotechnology companies are rushing to gain from genome wide association (GWAS) and linkage studies.

On the 18th of January 2012, we learned that Myriad Genetics has acquired exclusive license to intellectual property covering the analysis of the RAD51C gene for risk of hereditary breast and ovarian cancer. The six heterozygous mutations found in the RAD51C gene by a German group confer increased susceptibility to breast and ovarian cancers (for more info, click here).

My dilemma, and the reason behind my post, is to ask how will the patenting industry cope with thousands or more disease-associated DNA sequences coming out from the HVP? Moreover, after further validation, do I submit my unique sequence I found in the MLH1 gene to the Insight database, where it may help clinicians and patients, or do I patent it first?

By the way, I know that I and my colleagues in the Middle East and beyond have hundreds of these risk-associated sequences. We do want to do something with them that reflects the true human spirit!

Fahd Al-Mulla