Thursday July 12, 2001 Yahoo.com

Huge Genetic Variation Found in Human Beings

By Will Dunham

WASHINGTON (Reuters) - The notion of a uniform genetic blueprint for human beings took a tumble on Thursday, as the most detailed examination yet of variations in the genetic makeup of people detected unexpectedly large individual differences.

Researchers with Genaissance Pharmaceuticals Inc. of New Haven, Connecticut, found astonishing variance at the genetic level in 82 unrelated people primarily from four racial backgrounds -- white, black, Asian and Hispanic.

In studying 313 genes -- out of the 30,000 identified by human genome scientists -- the Genaissance researchers found that for each gene, there actually are on average 14 versions that can be inherited by a given person from parents.

The researchers said their findings should cause scientists to rethink the definition of the human genome, or genetic map.

``We've looked at the largest number of individuals and diverse populations that's ever been done,'' said Gerald Vovis, Genaissance chief technology officer and senior vice president and an author of the study appearing in the journal Science.

``The most surprising finding that came out of here was the fact that we found an enormous amount of variation within these genes which had not been known before,'' Vovis said in an interview.

Vovis said the genetic differences may help explain why people respond differently to various medications. Whether a patient possesses a certain version of a given gene could determine whether a particular drug would be beneficial, do nothing or even harm the patient, the researchers said.

The hope is to be able to harness the knowledge of an individual's unique genetic makeup in order to tailor disease treatments to that specific person, Vovis added.

PRIVACY CONCERNS

Vovis said he foresaw a day when patients would provide a blood sample to their doctor to allow for a genetic examination that could guide treatment decisions. He acknowledged some patients might fear this private genetic information could be misused or exploited.

``We have concerns about it,'' Vovis said. ``We are very well aware of the fact that in order for people to take benefit from this, they are going to have to feel that their genetic information is being treated in a confidential manner.''

Dr. Francis Collins, director of the National Human Genome Research Institute, part of the U.S. government's National Institutes of Health (news - web sites), told Reuters the study adds ``considerable optimism'' to using a gene-variation strategy to find hereditary contributions to diseases.

``We have been talking a lot about how similar all of our genomes are, that we're 99.9 percent the same. That might tend to create an impression that it's a very static situation. But that 0.1 percent is still an awful lot of nucleotides (genetic building blocks),'' Collins added.

The scientists who in February unveiled the sequencing of the entire human genome -- a human being's complete allotment of genes -- said it took 30,000 genes to make a person.

HALF MILLION GENE VARIATIONS

Genaissance researcher J. Claiborne Stephens, lead author of the new study, said if that is accurate then ``the functional complement of the human genome is going to be a repertoire of something like 400,000 to 500,000 gene versions.''

The researchers studied the genetic makeup of 21 whites, 20 blacks, 20 people of Asian descent, 18 Latinos and three American Indians. The groups proved to have a certain degree of genetic idiosyncrasies, likely because their ancestors had a common history in a geographical region over thousands of years, whether in Africa, Asia, Europe or the Americas.

The two groups that shared the highest number of rare genetic variants with one another were the blacks and Latinos. The Asians shared comparatively little with the other groups.

``What we didn't see was any variation that really defined what might be considered to be an ethnic group,'' Vovis said. ''What we did see, however, was that different versions of a gene may be present at higher frequencies in one group of a geographical origin over another.''

Vovis said Genaissance has conducted a clinical trial showing how genetic differences between people affect the effectiveness of a certain drug used to treat asthma, and launched another trial in April involving medication used to control high blood cholesterol levels.

-- Anonymous, July 14, 2001

Answers

Lars:

Not too much new here; it is just a public release. It just says that Lars is not Z. Now you claim to be from Norway or some such 3rd world country. Records say that my family came from there after the end of the last ice age. Still, Lars is not Z. Perhaps a good thing for both of us. We should worry about the fact that the observed variation is less than that between us and, either, chimps or the folks who post on the Dennis board. *<))))

Best Wishes,,,,

Z

-- Anonymous, July 14, 2001

Lars,

What Z said.

This sounds like a clueless newsdrone who's in WAY over his/her head.

Think about it: we have a limited number of genes, and yet, there are a myriad different ways that each of us can turn out. Even if we strongly favor our father or mother, we're still different.

In other words, these people have discovered Individuality. :)

(Just wait -- they'll try to patent it!)

-- Anonymous, July 14, 2001

You mean I shouldn't have spent my life savings on Genaissance stock? Thanks for your responses. I've had the same question on Unk's for a few days and nada.

-- Anonymous, July 14, 2001

Here is another pop-science link about the genome that I just ran across. At least it references the actual research paper.

About all I can conclude is that we have a long way to go before we understand the genome (whatever that is).

-- Anonymous, July 14, 2001

Well that was weird. All I did was try to post a second link about recent genetic research. Try again.

-- Anonymous, July 14, 2001

Lars,

Well, on the stock thing ... considering that millions of brain-dead yuppies bought Yahoo and Amazon, there is hope for that portion of your portfolio. :)

The other story just underscores for me that some of the announcements about the genome having been "cracked" were perhaps a bit overstated.

(Not by the scientists, but by the newsdrones who don't understand this stuff to start with.)

-- Anonymous, July 15, 2001

Stephen,

I'll answer to "brain dead" but watch out who you're calling a yuppie. Them's fightin' words.

Got any hot stock tips?

-- Anonymous, July 15, 2001

Lar-z,

My point was, if brain-dead yuppies (which I've never considered you as being -- is that grammatical?) can pour money into Amazon and Yahoo, thus artificially inflating the price, perhaps you can expect them to pour equal quantities of cash into these genetics companies -- whether they're good investments or not.

THAT'S why the key is to know when to buy and when to sell. You want to buy when the brain-deads are headed toward a stock and sell just before it crashes. :)

Having that knowledge is the purview of shamans and mystics, of which I am not one (more questionable grammar; I must repent).

-- Anonymous, July 16, 2001

Stephen--

Yes it was all mo-mo, but who knows when manias end? The shamans got out in time. Mere mystics like me got waxed.

-- Anonymous, July 17, 2001

It will be huge of course but think product not progress when investing. Still, it's neat to watch unfold.

-- Anonymous, July 18, 2001