Thank God I do not have to pay for my genes !


I was clearly worried last week as the issue of patenting of genes was to be debated the ‘supreme court of USA’.. Clearly it would be a nightmare that as soon as your child is born, you need to pay multiple companies who patented different genes.  Fortunately in their infinite wisdom, the US court has not allowed the patenting of BRCA1 and BRCA2 genes as they naturally occur in human genome discovered by scientists.

This of course raises a large query as to why  the petition to patent human genome, which is a result of millennia of evolution, can be even be considered for legal patenting.  There is also a caveat on some of the synthesized DNA genes that can be patented but one has to see the implication of the same. Let’s not discuss the jurisdiction of US Supreme Court on the gene pool of human race on planet earth.

Clearly science is now moving into more commercialization.  Earlier scientists primarily worked for the sheer joy of finding something exciting and new which was of potential benefit to the society.  Many times it involved sacrifice and only a few were recognized, sometimes after their life, by awards and prizes. Marie Curie who along with her husband has given us an insight into radioactivity, finally succumbed to the harmful activities of radiation which were unknown at that time.

Many of the brilliant scientists  do not have adequate financial returns. But then, somewhere it happened that patenting becomes more important  than publication of scientific results.  In fact, a new findings in science is patented first and published later. It is always not necessary for patenting to lead to commercial exploitation, but it does guarantee intellectual property which is much more important than commercialization. In medical science, financial reward is still not the primary motivation.

Sometimes commercial interest speeds up science.  Craig Venter, the geneticist, started a private funded institution  for unraveling the human genome.  It was a jolt and  many international academic institutions to come together to match  the speed of private enterprise and work on the human genome project and it is interesting that both completed around the same time. 

So coming back to genes in cancer,   one of the associations among the common cancers is colon cancer.  In fact, it was Henry Lynch who identified that some colon cancers are passed through generations, so called ‘Lynch Syndrome’.

There are certain characteristics in those families when it occurs in younger age and it occurs in 2 or more  individuals across 2 generations and if such a history is there we now have a reliable test called microsatellite instability by which the offspring can be detected to have the genetic abnormality in DNA  or not.  HNPCC ( Lynch syndrome) is basically due to a deficient mechanism of DNA repair  in these families.  Surprisingly because of the awareness of the inheritance these patients tend to get checked up more frequently and detected early and they need removal of nearly 80% of the colon to prevent multiple colon cancers from occurring. 

So for  a clinicians treating colon cancer :

If I see a young patient, I have to enquire about the family history and also check the MSI and if it is positive, would offer a subtotal cholectomy or removing 80% of the colon than removing just the affected colon.

 Strong genetic associations are also seen in some families with Eye tumors in children called retinoblastoma but these are rare.  So though the genetic abnormalities leading to cancer are rare, genetic testing would have a far larger implication and should not be patented as in current situation where larger interest of the society is more important than commercial benefit.