1. Genetic Medicine
  2. The problem with Comparative Whole

The problem with Comparative Whole Genomics……

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I have been having this debate with a good friend and mentor.


I think Complete Genome Comparison could be a Killer App.

He thinks it could be a legal and scientific nightmare.

I think he's right.

Let's really think about this for a second. If history has anything to say about human behavior we need look no further than the secrecy with which gene sequences were hunted.

Hell, even Science makes mention of it several times. The Article "Data Hoarding Blocks Progress in Genetics" might be a good read if you are interested.

Guys like Daniel MacArthur over at Genetic future point out some good points about the difficulty in making sense of all the noise that exists in genomes. But the problems go even further than that. Hell, CNV can differ in IDENTICAL TWINS!!!! Say Wha?

So what do we have to say about this? Phenotype and comparison are kings. Databases of "normals" and disease afflicted need to be developed. They need to be curated, they need to be "shared"

Ahem, excuse me? Did you say "shared?"

Yes, I did say shared.

Exec/USGOVT/BGI/UK/Etc- "Well, sure we would like to give that idea more credence and study it. And the implications it may bring. Would you be so kind as to forward your attorney's information so that our attorneys can consult with yours in order to bankrupt you and send you away with you radical thinking?"

He has me convinced (a tough thing to do) that the level of collaboration amongst human geneticists and Venture Capitalists might not be exactly the level of their physician brethren....

What happens when you get access to a database, but not "all of it"

Who pays? Who benefits? Who gets rights of discovery? Who pays the Nosferatu? (sorry Dan)

With Sequencing as a Service, do you have these problems licked? Probably not.

So when Daniel points out every geneticist afflicted with a disease feel good discovery, there are about 100 nightmare scenarios of chasing down rare variants that turn out to be nothing except a good excuse to burn through 10 million dollars........

I begin to say, well how can we pick that up quicker? Comparative Whole Genomics.

Great, which database do I start with? Do I have to use 20 or 200 databases? How can I afford such work? Which one of the 200 won't make a play legally to own my discovery?

Ahh, yes. It is a good time to be a genome centric attorney. But a nightmare to launch a business where you depend on someone else's database.........

The Sherpa Says: Yes, sugar plums, ponies and lemon drops for as far as the eye can see for Genomics! I hope Andy will bring this back to earth........Or maybe Glenn Close can show us where the fruit punch swimming pool is?
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  1. Genetic Medicine
  2. The problem with Comparative Whole