Tuesday, June 5, 2007

Dr Collins reports from the Front Lines

In the second of my 3 maybe 4 part post I will detail Dr Collins' report from the Front Lines of the Revolution!

First some notable quotes

  • "2007 is going to be a landmark year in Genomics and Medicine"

  • "We all have ticking timebombs in our genome, you could guess most of them from family history.........But not all of them"

  • "We shall have the major genetic risk factors for common diseases in 2-3 years or less"

Without further ado I will break his talk down into sections. Dr Collins', feel free to correct anything in this.

"Notes From the Front Lines"

  1. DNA sequencing is undergoing a revolution. I almost felt that he had been reading The Sherpa prior to giving this lecture. I had commented on 454 recently. On powerpoint he showed the technology behind 454 and Illumina. he did not comment on nanopore, but I think that's because it is not ready for prime time. In addition he did not comment on RainDance..............I feel he knows something big is going to happen in sequencing real soon.

  2. Common Disease gene discovery is skyrocketing. In this subset Dr Collins draws our attention to several great discoveries. He talked about GWAS (genome wide association studies). He even mentioned the numbers and power required to get a decent study. I am always amazed by how the public and physicians think this type of stuff is easy! He made mention of the macular degeneration studies which implicate 2 gene polymorphisms in over 50% of the disease!!! He spoke about Diabetes, something that he has been studying for 14 years. He did not metion DNADirect and DeCode's TCF7L2 testing via DTC........ I think this is a hot topic. Especially because Sharon Terry was at the conference. A great woman who is now advising DNADirect. She is a patient advocate in the truest sense. Without her GINA would not be around.

  3. Diagnostic capability is advancing. In this subgroup Dr Collins mentions Abacvir toxicity and pharmacogenomics testing. He also give us some insight into the pharmacogenomics process and how we can use these tests. By this time my teams' heads are spinning. I am reminded of my prior post. Coumadin was mentioned by Dr Collins too, the 1 hour test was not. Trust me, this flank is moving full speed ahead!

  4. ELSI needs to be addressed “Will we increasingly think of ourselves as hapless victims of our genotype?.......Attention to ethical, legal and social issues is more important than ever,” Dr Collins aptly points out the fact that we have some serious loopholes in our legal protection. In addition, we have to think about ALL of the uses and misuses of this information. Later on I'll tell how Representative Kennedy is super focused on this topic.

The Sherpa Says: Ok, this is too much info. Let's digest this and move on later today..... Oh and Francis is the Man!!!


Keith Robison said...

To say nanopore is not ready for prime-time is a bit of an understatement -- has any publication actually demonstrated reading any sequence data? My impression is that nanopores haven't even gotten to proof-of-concept for sequencing, only proof-of-concept that you can watch DNA go through a pore and that there are subtle nucleotide-dependent differences.

Nanopores may be a contender for next-next generation sequencing, but IMHO any contribution is a long ways off -- it would be stunning if they showed up in the next 5 years as a commercial instrument.

Steve Murphy MD said...

I totally agree. Perhaps I have been like the media.......But this technology has been around for 7 years now. Hopefully this will move quicker than we think....Or some other disruptive technology will trump all of these.

Berci Meskó said...

You've met so many interesting people! It could have been great to listen to Collins himself. :)

He is really the best on the field...

Maybe, any of their slideshows are available on the net?