Breaking The Code

It may look like Marty Schiff was brushing his teeth in the privacy of his Pittsburgh kitchen, but he was testing his DNA.

"When I opened it, there were two swabs in it with instructions," says Schiff.

Instructions from a DNA test kit he ordered by mail.

"They have you roll the swabs along your inside cheek for 20 times each and let them air dry," says Schiff.

He was testing for a genetic disorder called Hemochromatosis, which can cause the body to store lethal amounts of iron. The company that makes these kits, Healthcheck USA, will report the results to him, not to his doctor and not to his insurance company.

I like the fact that I can do it at home. I'm in control. I don't have to get a doctor's permission to get the genetic test," says Schiff. "You do it and you send it back. And you'll get your results mailed directly to you after that."

Donna Upchurch tested her baby Allison with a do-it-yourself gene test. When Allison was born, Donna was offered a newborn screening kit and on a whim, did the test and mailed it in.

It was a good thing Upchurch performed the test. The Neo Gen Company screens infants for some 50 different genetic disorders. They discovered that baby Allison had a rare mutation that can cause protein to build up in the body like poison.

"It's called Glutaric Acidemia Type 1," says Upchurch. "Most kids that go untreated don't usually live past the age of 10."

It's the new era of what you could call consumer genetics. An era made possible by the completion of the human genome project; an era in which the marketplace now supplies tests, treatments and products customized to your DNA.

One company, DNA Print Genomics offers an at home DNA test kit that will tell you your race.

"The test basically tells you what your individual admixture is. For example: Are you 80 percent European, 20 percent African or are you 100 percent European or some mixture of Asian or Native American?," says Dr Tony Frudakis, DNA Print Genomics' founder.

Dr. Frudakis says for some customers, the results are a shock. Many Americans are racially mixed and have no idea to what extent.

"You stop 10 people on the street and maybe 3 or 4 of them will claim that their great grandmother was a full blooded Cherokee," says Dr. Frudakis. "You run the test for them and about half of those people are wrong."

Some of the products in the new genetic marketplace could prolong your life. A television ad promotes a test for the BRAC gene, the gene that can signal high risk for breast or ovarian cancer.

And some products seem to borrow from science fiction. How about DNA face cream?

"We look at five genes specific to the skin," says Lab 21's Dr Charles Ryan. "That information is then sent to our laboratory."

Dr. Ryan's company has taken the gene revolution retail. At a department store counter, you get your cheek swabbed, pay $250 and they will make a face cream specific to the genetics of your skin.

He admits he has faced significant skepticism.

"I am not surprised by the skeptics because they are not very educated about the science," says Dr. Ryan.

In fact, the field of genetics has spawned new kind of science. A lab at Tufts University specializes in what's called Neutrigenomics — the study of how food impacts genes. We have long known that genes can cause disease. What's new is that we may be able to change the way our genes behave, depending on what we eat.

Patrice Rider is part of an experiment looking at how people with different gene types react to a soy protein diet. Researchers are watching her cholesterol and every microgram of protein she eats.

"It's 100 percent consumption and so I have to eat everything," laughs Rider. "I have to scrape the bowl and lick the bowl. That's what they told me. It's impolite, but there's no rules. There's no etiquette here."

Dr. Jose Ordovas, chief of the Nutrigenomics lab, studies the link between genes and cholesterol. He says, depending on one's genetic makeup, people's cholesterol may go down or not respond at all with gene therapy.

Dr. Ordovas has found that genes not only determine who's most at risk for heart disease, they also dictate who will be helped or harmed by a low-fat diet.

"The low fat idea is not for everyone," says Dr. Ordovas. "For some people, it will not matter if they eat more or less fat. And for some people, it could even be negative."

Dr. Joel Mason, a Tufts researcher who studies colon cancer, says he believes folate may offer some people more cancer protection than others. Folate is the nutrient found in leafy greens like broccoli.

"We are finding more and more that what you take in your diet does have an impact on the integrity of your genetic material," say Dr. Joel Mason. "Some people, based on their genetic background, might require more folate than others in order to optimize their prevention against developing colon cancer. They might more effectively reduce their risk of developing cancer."

Which means that one day, the most advanced form of preventive medicine could be a prescription diet. The doctor will test your DNA, learn if you're at risk for cancer, heart attack or other diseases and prescribe food.

"What we are learning is to properly feed our genes as individuals," says Dr. Ordovas. "Because each one of us needs different fuel."

Ultimately, thanks to the decoding of DNA, we will all follow the path of baby Allison Upchurch. We will take our at-home gene tests, unlock the secrets in our medical destinies and react.

The only treatment [for Allison] is a diet," says Dr. Ordovas. "We just have to give her certain foods to help her body regulate normally."

American children who don't take a 50-disorder gene test may have a metabolic disorder; some may not have a normal life.

"I'm just fortunate enough to catch it " says Donna Upchurch. "In Allie's case, it saved her life."

Skin Cream:
Lab 21

Hemachromoatosis:
American Hemachromoatosis Organization
HealthcheckUSA

Breast Cancer:
Myraid Genetics

Ethnic Testing:
Ancestry by DNA

DNA Print Genomics

Other Site:
Nutragenomics