I voluntered to deliver a talk covering a certain topic in Genomics in an upcoming Friday Science Seminar which is regularly sponsored by our Department of Natural Sciences. We have a Spring Break this week and I was supposed to be relieved from the usual school tasks. But I was glued most of the time to my laptop gathering materials for my talk. The good thing is that, unlike during my student days when I had to dig up the card catalogs in the library and spend countless hours leafing through the pages of journals, I just have to type the topic and let the search engine do the searching!
Turns out, this year marks the 10th year after the draft of the human genome was reported. Two drafts actually, one done by the government-sponsored International Human Genome Sequencing Consortium, the other one by a Biotech Company, Celera Genomics. Each used different mapping strategy and both came up with comparable results.
Mapping the human genome was an ambitious project conceived in the 1980s under the Clinton Administration. It officially took off as a 15 year- and 50- million dollar project in 1988, as a collaborative undertaking by participating laboratories in the US, UK, Japan, Italy, China and somewhere else. This project had an initial rough sailing while presented to the government for funding. Fears were mounting that most of the research budget would be siphoned to this audicious project. Tauted as a big science, many scientists were abhorred of the idea at the get go. Being a non-hypothesis research was also a major issue.
Anyway, in the month of February 2001, two leading highly authoritative scientific journals, Science and Nature, trumpeted to the whole world the first drafts of the human genome project. The project was completed two years ahead of schedule and at $3 billion bill. Among the salient findings: (1) about three billion bases (A,T,G,C combined) or 3.2 Gigabases was estimated to compose the human genome; (2) only 1.1 to 1.4% of the sequence actually encodes for proteins; (3) over half of the total DNA consists of repeated sequences; (4) about 1.42.million single nucleotide polymorphisms (SNP) were unearthed to be distrbuted throughout the human genome. Simple translation - there are fewer genes annotated than what most scientists were expecting! For it was believed with the complexity of human beings and being on top of the evolutionary ladder, at this time, humans must have accumulated a comparably higher number of genes. The question that crops up with this finding is: what is most of the DNA (the non-genes) in the genome doing?
Hope springs eternal. With the human genome sequenced, it was hoped that information about every base in the human DNA could provide benchmark to the development of personalized treatment of certain disease/s tailored to every individual's genetic profile. The genetic clues could be mined from the individual's SNPs pattern. In the same manner, preventive treatments could be given to individuals whose SNPs patterns reveal predictable late onset gene-based diseases.
But medicine is not quite there yet! Ten years after, the beginning has just started. The art or science of medicine has yet to take off incorporating genomic information to the treatment regimen. In response, a few topnotch medical universities in the US are beginning to re-write their curriculum considering the direction of personalized treatment of human diseases. While humans are genetically distinct from our close furry relatives, every individual has a distinct set of SNPs. This unique genetic identity explains why different individuals having similar symptoms and nature of disease would respond differently to the same treatment. And this is when personalized treatment becomes an invaluable tool.
Personalized medicine brings forth to life pharmacogenomics! That is - developing certain drugs or treatment plans based on the patient's DNA sequence. Which means, a patient should have his entire DNA sequenced.
Sequencing the human genome for the first time was very costly, took a long period of time (13 years), and quite labor intensive with hundreds of DNA nerds spending countless hours in the laboratory , in over 20 laboratories worldwilde! But through their journey, technologies evolved. Automated DNA sequencers were developed, and the processing capability of computers has been improved beyond one's imagination! We learned that some who's who in the human genome project ,and rumors have it that few celebrities, have their own genomes sequenced, to a tune of a million dollars a piece.
But mortals like me and everybody else, may not lose hope. With technological advancement occurring in quantum leaps, genome scientists sing in unison that soon sequencing one's genome could be inexpensive, and therefore, become affordable to many! Save a thousand dollars and drop your mouth swabs in the mail. In one week, receive your DNA sequence! This will then mark the era of the start of personalized medicine... when a patient's genomic sequence has become a part of his medical records!
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