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This article was originally written for a paranormal magazine called The Paranormal Journal,  it became known as The Underground Files covering ghosts, ufos, cryptozoology, and government conspiracies amongst others. I no longer write for the magazine and it is no longer in existence.

We’re not Talking Garden Gnomes

It’s been three years since scientists completed a rough draft of the human genetic code, but no one’s buying personal DNA analysis.

If you want to, you’d better start thinking of it in these terms, the first draft took 12 years to make and it cost billions of dollars, so, yeah, knock it off your shopping list.

Though the cost has fallen, today, you’re looking at a nifty sum of around $50 million; you could easily break a bank balance at that, and the target price that wishful thinking to get it to – is $1,000 for an individual’s DNA sequence.

That’s the price considered essential for giving scientists the thousands of sequenced samples they need to understand how genes work, and giving patients access to a personalized DNA snapshot at your local high street doctors.

Some scientists believe old methods of DNA sequencing, though improving, will never produce a $1,000 genome, and they are looking at radical ways of to map the blueprint of human life.

The methods remain far from proved. But there appears to be breakthroughs…

“It’s not clear which of these things will be the ultimate success, but I think these are all pieces of the puzzle moving in the direction we need to go,” said Jeff Schloss, program director for technology development at the National Institutes of Health’s National Human Genome Research Institute.

The human genome project yielded the first complete sequence of the 3.2 billion base pairs that compromise the DNA molecule of a person, well that’s telling a little fib, as they actually sequenced a composition of a few people.

Each base is one of four chemicals, their order governing a human being’s development.

That was only a starting point.

While the DNA of one person is 99.9% identical to another’s, it is the 0.1% of variation that interests most scientists because the differences may answer certain questions like why some people develop diseases and others do not.

To answer those mind boggling questions, scientists must compare DNA sequences of thousands of people.

To get them, they must find a way to sequence DNA that, unlike the first sequencing, doesn’t require thousands of lab technicians and dozens of supercomputers.

“To actually deliver everybody’s genome, you can’t apply that kind of brute force strategy,” said George Church, a researcher at Harvard Medical School.

For years, scientists sequencing DNA have relied upon a lumbering technique electrophoresis. But it requires expensive chemicals, and without expensive hardware an average lab would be hard pressed to sequence more than 1,000 base pairs a day.

Yeah, at that speed, it would take almost 10,000 years to get through the 3.2 billion base pairs in human DNA. But you guessed that didn’t you?

The new techniques start from scratch. Talking of scratch, imagine dropping a sample or two along the way… How many years would that add on…?

In April, a group led by Caltech researcher Stephen Quake, published the first successful results from “single molecule sequencing,” or reading DNA one base pair at a time (are you following this – I’m only writing this).

Quake’s group uses a fluorescent label to mark the free molecules that surround DNA, then tracks which molecules are used when the DNA makes a copy of itself.

The technique works on only five base pairs at a time, but Quake says many sequences can be read at once. I got that... Well, another little fib…

In an article published in the August edition of Science, Church’s lab reported progress on bathing DNA in different frequencies of light to produce a colour coded snapshot revealing the order of a DNA sequence.

David Branton, a Harvard colleague of Church’s, is working on a method Schloss considers among the most promising - that of shooting DNA (sounds disgusting) through a tiny hole called a nanophore and measuring the electric signals each base pair emits.

In another recent development, a Branford, Connecticut company 454 Life Sciences announced it had sequenced genome of a virus about 30,000 base pairs long – by dropping DNA into tiny wells and is now working on bacteria, with 2 million to 8 million base pairs.The company hopes to make its way up to humans.

Other companies can compare one strand to a reference, like that provided by the human genome project, and highlight differences.

That could help scientists recognise the 99.9% of identical base pairs, and allow them to focus on the remaining 0.1%.

Woburn based U.S. Genomics in Massachusetts, for example, tags certain sequences then shoots them past a laser, which detects the tags as they go by.

Many of these techniques solve some of the problems with electrophoresis, but none of them solves all.

Knotty obstacles remain, like ‘blurring’ of the base pairs’ fluorescence, or finding computers that can crunch all the numbers these methods produce.One skeptic, Elaine Mardis, a genetics expert at Washington University in St. Louis, is concerned that too many labs are releasing “data by press release” rather than subjecting the information to scientific review.

She isn’t convinced that scientists are solving problems such as how to read longer DNA structures or in developing precise instruments to perceive fluorescent light.

“Honestly, it’s going to take 10 to 15 years to get there,” she said of the $1,000 genome. “The non-scientific public is hearing this and saying that sounds really great, and people must be at that goal because they’re talking about it. That’s totally not the case. This is the plan for the future, and the future is not now.”

We’re not Talking Garden Gnomes written by Bill Barber

 
 


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