Whole Genome Sequencing - Game Changing Event
I have often maintained a bit of skepticism on whole genome sequecing. It is a growth area to be sure, but one that always seemed to me where hype led substance. The 'we're all going to get our genomes sequenced' was not a surety to me, at least not anytime soon. As the sequencing technology has continued to get cheaper and more practical, many more genomes would indeed be sequenced. Still to me genome sequencing was perhaps always going to be an information gathering / research effort, with eventual findings being transitioned to simpler diagnostic tests which provide decision tree type answers, be they PCR, array, or otherwise based. Don't get me wrong, the research market is a respectively large one, but the hype always looked forward to the much larger consumer and diagnostic markets. I fully expected the next wave of growth in whole genome sequencing to be in the drug development clinical arena, such as part of studies trying to understand who was and wasn't repsonding and also to appreciate why, with oncology being the leading area of study.
But, I think we have a watershed event which will become a big deal and bring both expanded use of whole genome sequencing and consumer interest in it. It is the result of
Genome Study solve trins' mystery illness
The story relates to a set of twins who had diabilitating neurochemical issues. The original diagnosis of a dopamine deficiency was initially helpful, but not complete.
Beery's relentless search previously led the children to Dr. John Fink of the University of Michigan, who diagnosed the children, then age 5, with dopa-responsive dystonia (DRD), a complex movement disorder involving the loss of the neurotransmitter dopamine. .. The muscles of people with dystonia contract and spasm involuntarily. When the twins were given a drug called L-dopa, which substituted for the neurotransmitter dopamine that they lacked, they responded quickly.
This didn't fully solve the problems and other issues came to the forefornt.
As luck would have it, the twins' father had recently taken a job as chief information officer for the Life Technologies, maker of gene sequencing machines. ... With his wife's prodding, the couple approached the company and asked if their children could have their genomes sequenced through a joint project with Baylor. .. the team discovered that the twins carried a mutated gene related to serotonin production that made them deficient in both dopamine and serotonin, another neurotransmitter.
Adding a serotonin-inducing supplement called 5-HTP to their dopamine regimen improved their symptoms dramatically after just a few weeks. "Now, because of the sequencing, Alexis started on this new amino acid and she started back in track in March," Retta Beery said. "She's been winning races."
So whole genome sequencing allowed for a finding that enabled a fine tuning with simple CNS drugs, with the result being a dramatic change in the patients lives i.e. the apparente achievement of funtional normalcy. That is huge!! CNS drug development is very very difficult. Proper diagnosis of disorders and determining effective treatment even harder. There is a huge population looking for assistance here. So now CNS trials will also look to incorpoate and evaluate whole genome sequencing. Also, since we have an example that 'what is missed' may be as important as 'what is found' for these types of idications, the diagnostic testing may also be whole genome sequecing or array based. And any patient looking for treatment and assistance are going to want to be squenced in the hope that a simple, overlooked, hard to otherwise diagnose issue, could lead them back to functional normalcy with a simple, perhaps even dietary, change.
One potential issue is that many of the drugs are older and generic, which produces a disincentive to take one long and expensive clinical trials. But this single simple result is likely to reinvigorate CNS drug development, and create an expanded public interest in 'being sequenced'. Both a big deal. Watershed achievement in my opinion.
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