OK, so by 2003 we had the human genome more or less mapped. Yay for us. In the 6 years that have followed, what has actually changed? I remember thinking while the mapping was underway that at its conclusion medicine may well have been changed forever, but now down the track a bit it doesn’t seem like that much has changed. Am I missing something?
Now what?
Now we create an army of Human-Animal hybrids & conquer the World.
Bwa-hah-ha-ha, as stated in our previous communique.
Keep up with your email, BACI, why doncha?
You are missing the enormous gap between simply sequencing base pairs and figuring how they group into genes and how those genes actually effect phenotypic expression. Which are dormant? Which are switches? Which have which effect when which others are present? Which are affected by environmental influences? And so on.
*"In a sense, the easy work of genomic medicine has been completed–the near-finished complete draft of the human genome sequence, the development of tools that allow high throughput targeted resequencing of the genomes of multiple individuals, the identification of some major alleles that predispose to development of identifiable genetic disorders and of other that increase the background risk for the development of more common conditions, the development of sensitive and convenient gene expression arrays, and the refinement of computational tools to use them. But, those are the easy steps…
And they have led to some notable, though relatively small scale, success stories. These include identification of individuals at risk for adverse reaction to chemotherapeutic drugs on the basis of variants in processing enzymes, the prediction of response of malignancies to drugs and of their propensity for metastasis on the basis of expression profiling, and the development of drugs based on detailed knowledge of receptor structure.
There are several areas of new knowledge that will have to be developed to create a reality of genomic medicine. These include the characterization of genomic variation among individuals in the target populations (and each separate population will probably have to be studied anew), the identification of the clinically significant variants in each group, the assessment of the extent to which intervention could change predicted outcome–taking into account other changes in environmental exposure and behaviors, and the development of an understanding of the costs of these processes for the society and weighing them against other societal needs."*
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1363762
The press has a bit of a tendency to hyperbolize. Here’s a cautionary view:
But in general, we are seeing some remarkable advances with genomics, especially in pharmacotherapy.
Thanks for the links CP - ignorance on its way to being fought. (Second link was a subscription one so couldn’t access the content).
I don’t have a medical background - am I reading the first article right - the potential for genomic medicine currently lies more in the fine-tuning of responses to existing pharmacotherapy, and identification of causalities which will increase benefit/decrease risk of existing treatments rather than big picture “making all cancers a thing of the past” treatments?
Also not sure of the meaning of “high throughput targeted resequencing of the genomes of multiple individuals” - how would a patient typically experience this?
You’re exactly right.
Well, if your genome is going to be sequenced, the only thing you need to do is have someone swab your cheek once (or some other way of collecting a live cell). Everything else happens in the lab.
That is not a diagnostic tool for patients; it’s an already-accomplished step in the greater human genome project. Targeted resequencing involves the comparative analysis of candidate genes or regions, and is performed at a high level of accuracy using methods that would be tedious, expensive, and probably impossible for larger projects. Sequencing multiple individuals is the only way to study parts of the genome that naturally vary from person to person.
When I was in a college genetics class, a professor compared the Genome Project to Lewis and Clark. What they did was necessary and very important… but Seattle did not spring forth full-fledged the next year.
Also, some of the most interesting developments happened around the Genome Project - computer technology to store and manipulate the data, and DNA chips to massively increase the speed of sequencing the DNA.
If I recall correctly, the timeline for the development of a new pharmaceutical is something like a 20 year process (basic theory, lab testing, animal testing, human testing, figuring out how to mass-produce it, etc.). Presuming that number to be about correct, we won’t see any new medicines based on what we’ve learned until starting around 2023.
As one point of data, one of the key developers of Viagra started researching a new branch of investigation in 1978, and completed that study in 1986. Viagra, then, was released in 1996.
Presuming that the basic sequencing of the human genome is comparable to Furchgott’s completed study, then it looks like it can take 10 years for that to be developed into a marketable drug. Whether that’s a fast example or slow example, I don’t know. I imagine that depending on the outcome of trials, a line of inquiry might be delayed indefinitely until a solution is discovered.
Curing all of society’s ills may be way off in the future but there’s no reason why we can’t start having fun with it now.
Except there are a lot of people working on discoveries at the same time. They should be pouring in very soon. A lot of schools are involved in the research too.
DNA chips for sequencing DNA ? Are you sure ? :dubious:
I believe this is what is meant: DNA microarray
There are exceptions to that timeframe. Gleevec (imatinib) went from first tests to FDA approval in something like 5 years. The FDA approval process was about 2 years. AIUI, that’s the shortest time ever for drug approval by the FDA.
True, but that five years only counts the time after somebody decided on a particular drug target. Before that, there were decades of basic research that contributed to the eventual development of imatinib. Its targets had been known to be important in cancer since at least the 1980s. Here’s an open access figure that illustrates how the disparate lines of evidence came together over decades.
The whole era of genomics has spurred the development of a lot of new technologies for sequencing DNA, some of which are done on various kinds of chips. Some use microfluidics chips to speed up older (standard) reactions, and others use new reactions that are tethered to solid supports (either a chip or a bead).
Microarrays aren’t used to actually sequence a given bit of DNA, but they can be used to genotype (i.e. distinguish between known variants for an individual). Still, there are many other applications for microarrays, and they all rely on the massive amount of genetic sequence information we know have.