Gene Mapping: Predicting Your Future Health

June 3, 2010— -- Imagine for a moment that you were offered the chance to know every gene mutation that you and your family have in your DNA. Three billion bits of data, made up of four powerful letters -- A, T, C and G -- arranged in a sequence can offer you the map to your entire genome.

Knowing this sequence could potentially mean that you might know many of the diseases you could face during your lifetime.

Would you really want to know?

John and Judy West of Cupertino, Calif., did.

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John and Judy West, both 53, and their children, Anne, 17, and Paul, 14, paid almost $200,000 to have their entire genetic code read by the sequencing company Illumina.

The family of four became the first in which every member's genome has been sequenced for non-medical reasons. They say they hope to advance science and unlock personal medical information that will lead them to healthier lives.

"We do view ourselves pioneers," said daughter Anne West.

"It's rather like having, being one of the first people to have a telephone. Who do you talk to?" said Judy West.

In fact, for many who choose to undergo genetic testing, specific tests may uncover gene mutations that can show an increased risk for a particular disease.

Newborn screening tests and BRCA gene testing are among those genetics tests currently administered by experts. However, the emergence of direct-to-consumer sequencing companies, such as 23andMe, has arguably given people the power to learn their own personal gene map.

"The earlier you can catch a disease the better," John West said. "And if you can see it before there are any symptoms just by looking in the genes, that's terrific."

But while some use genetic testing to identify specific genetic mutations that have been found to increase the risk of certain types of diseases, whole genome sequencing can show potential codes as yet undeciphered by geneticists.