Tuesday, September 04, 2007
Genetic variation greater than expected
Craig Venter argues that the nature vs. nurture debate is far from settled.
From the first time it was reveled that my DNA constituted the majority portion of the human genome published by my team at Celera Genomics in 2001, I have frequently been asked what it is like to gaze at my own genetic code. Now, with today's publication of my diploid genome in the public access journal PLOS Biology as the first individual genome, it seems to have only increased people's fascination with what it's like to have your genome in hand. The difference between then and now is that many of the questions today center on what you can learn from reading your genetic code and how soon they can get their genomes sequenced.

At the start of the government funded Human Genome Project when scientists were contemplating whose genome(s) to sequence, secrecy and anonymity were the key words of the time. Fear, driven by genetic deterministic dogma (your genetic code will dictate your life events), dominated the approaches then. The genetic code does largely drive the lives of single cell organisms, but genes plays much less of a role in our bodies since we have over 100 trillion cells, each being nurtured in a unique environment.

The notion that minor changes in the genetic code of single genes will be the primary determinant of what diseases we will get arose out of some of the early genetic discoveries. The classic example is Huntington's Disease in which additional DNA insertions in a single gene are strongly linked to who has the disease. My view is that these early discovered links between genes and disease occurred because they were rare single-gene disorders and were not at all representative of the majority of human traits. Instead, the norm is an impressive array of large sets of genes together with environmental conditions that will determine life outcomes.

Our publication today shows genetic variation between people is substantially higher than we expected and that we do not all have the same sets of genes with minor variations that determine who we are and what diseases we get. While my genetic code shows many disease-linked variations, I am happy and healthy at age 60. And while I'm excited to have my genome in hand, my ultimate goal is to have a database with over 10,000 complete diploid human genomes and associated medical information. Only then will it be possible to assess what is nature, i.e., from your genes, and what is nurture or due to your unique environment. As always, I'm impatient to get to the next level as I have always believed that genomics will revolutionize our lives.

-- By Craig Venter, Chairman and CEO of J. Craig Venter Institute
Posted By CNN: 11:35 AM ET
  8 Comments
Dear Craig Venter,

The theory of the Human Genome seems to be a one of the chicken and the egg. Which one came first: the chicken or the egg? Similarly, did a specific genetic code for a disease develop due to mutations after exposure to a historical pathogenic environment over centuries, or is the genetic code the cause of the disease?

The ethical concern is: Will people be discriminating in handing over their DNA over to their offspring. Will racial discrimination be even more fierce after learning that certain diseases are bound to race?

Will this cure Autism? Cancer?

Thank you for your time.
Posted By Ratna, New York, NY : 6:09 PM ET
It's cool, but scary @ the same time!
Posted By Kathy, Andover, KS : 8:12 PM ET
Dear Craig,
will this lead to pregnant women aborting the fetus if this test shows diseases the child could have? Had I known this while pregnant, I would of aborted my son who has diabetes and the stem cell cure is years out yet due to Bush.

I have cancer now and wished I knew my DNA for other diseases, so will this become a test we can request some day?
Posted By Anonymous : 9:07 PM ET
Craig/AC360:
My question is: What would insurance companies do with this information about genetic or diseased-linked variations?

It would be ideal to have breakthroughs in genomics to help cure diseases and improve the quality of life. But let's be realistic: will it lead to the have and have nots in the medical world depending upon insurance coverage and if someone can afford it?

Until medical care is universally available to all socio-economic levels, it will continue to be the survival of the fittest who can afford it.
Posted By Sharon D., Indianapolis, Indiana : 9:34 PM ET
Dear Dr.Venter,

I believe that every human-being is born with the same hardware in his head and his mental performance depends on the kind of software which he gets as inputs- viz. the family background in which he/she lived and learned, the educational opportunities,training etc. Does your study of genomes supports or opposes this belief? Are there genes which makes a person more intelligent than others?
Posted By Archive of An Obscure Hindu : 2:02 AM ET
I think this is very exciting.

It's like taking your car to a mechanic. They need to know how a car runs normally to be able to know why yours is making that sound. I think once we know more about this genetic puzle we will be closer to understanding how to at least successfully treat, if not eventually cure, the genetic disorders that affect thousands of families every year. Maybe not now, but eventually.

I'm optimistic. Even though there are limits I think there's a lot of good that will eventually come from this research.

GINA passing this year I think is a sign we're on the same page when it comes to genetic discrimination. Hopefully the politics will continue to keep up with science.
Posted By Michelle, San Diego, CA : 7:54 AM ET
All I could think of reading this piece is: This is so mind-bogglingly COOL! I read about advances and projects like this and I wonder if this is how my parents felt reading about the first discoveries from satellites and space travel. There is a whole universe in our bodies to explore and I'm sure all sorts of exciting things are yet to come.
Posted By Rebecca, Philadelphia, PA : 9:35 AM ET
Dear Craig,

This is way cool, as the kids say. I am ready to map my genome because I did extensive research -- a bit of digging into my family's ancestry and found many secrets and surprises. I now communicate with "ancestral cousins from medieval Scotland, medieval Ghana, the British Colonial Caribbean and Early Colonial America.

I would love to find out more about how genes get turned on and off (epigenetics) and why some genes were so resilient, regardless of where my ancestors migrated or settled. One branch of descendants of ancestors from Ghana not only look like us, but we have similar tone of voice, attitudes, belly laughs and health profile.

This is a recent article:

Financial Times FT.com UK
Pearl Duncan - 'My Scottish ancestors were heroes'
By Sarah Ebner

Published: August 18 2007 03:00 | Last updated: August 18 2007 03:00

When I started to look into my family tree, I couldn't have imagined the conflict it would cause. I spent 10 years researching my ancestors, and a lot of people didn't like what I had to say at the end of it. I'd tracked the cultural history that shaped my DNA in America, Europe and Africa, and discovered that not all white men in the British colonies who fathered children with black women in the 18th century were evil slavers. I found at least one ancestor who was an abolitionist and who did not abandon his children.

My family emigrated from Jamaica to New York when I was young, and I was always fascinated by where I had come from. My parents told me we were descended from the Maroons, or runaway slaves. Years later, when I went to our old family graves just outside Kingston, Jamaica, I couldn't believe it when I found our birth and baptismal records dating back to the 1700s.

I now know that my roots are incredibly diverse: I am descended from slaves; from free people who worked and bought their freedom; from Maroon warriors who waged military rebellions in Jamaica against slavery; also from British merchants, and European and African nobility.

My Jamaican grandmother's name was Rebecca Smellie and her ancestor was John Smellie, a Scottish merchant. In 1726 in Jamaica he had a child, George, with a "free negro" whose name was Ann Roberts. Even though there were penalties at that time - huge fines, deportation, imprisonment - for keeping records of black children, John Smellie left birth and baptism records with George's name on them.

Three of John Smellie's Scottish descendants settled in Jamaica on land he left them. One of them was called William Smellie and he died in 1800. He was an abolitionist, and when I found his will it showed that he left the maximum amount allowed under the slavery laws to his mixed-race children and their mother. Finding out about both these men changed everything for me. I had thought I was learning about the awful people who owned slaves, but instead I was discovering heroism, and people who stood up for what they thought was right.

I followed up these discoveries with research in Scotland, hiring Scottish genealogists and local historians. It turned out that John Smellie was of noble birth. I sent the records to the Court of The Lord Lyon, the heraldic authority for Scotland, which said I qualified for a coat of arms. I now have one that reflects the diversity of my ancestry.

My research also took me to Ghana. I tracked down dozens of ancestors and collected DNA from Ghanaian families whose names matched nicknames still used in my family. I spent a lot of time on the linguistic research, and DNA confirmed the connection. As far as I know, I was one of the first people in the world to use DNA in this way.

I've written a book about my research but publishers seem to think it's too contentious to publish. Talking about black ancestors who rebelled apparently goes against how Americans see these people - slaves were victims, not rebels. Editors are happy to accept stories about slaves who escaped one at a time, but they don't like the idea that they grouped together and stood up for themselves. That's too threatening.

I've also learned that many black Americans are afraid, as I was initially, of finding a slave trader in their family tree, so they don't really want to talk about their European ancestors. I got into trouble with my black friends for saying that John Smellie was a more caring man than many other colonials because he left a record of his child.

When you start looking into your genealogy, you have to come to terms with admirable and despicable behaviour, and that's what I've done.

As told to Sarah Ebner.

Copyright The Financial Times Limited 2007
Posted By Pearl : 5:32 PM ET
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