Gene Mapping: Predicting Your Future Health

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.

Learn more about the World Science Festival! Click here.

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.

In fact, sequencing genomes is so new, there is no program yet to decode the data.

"It doesn't come with any medical interpretation at all," John West said. "There's no guidebook. There's no glossary."

Instead, 17-year-old Anne has been deciphering her family's medical code on a spreadsheet on the family computer. The West family said they discovered they have a gene that puts them at increased risk of blood clots, especially if John West and his daughter Anne West consume large amounts of vitamin K.

"Part of the indication for me is that I shouldn't eat spinach," John West said. "So, the simpler thing is just to say, 'I love lots of other kinds of salads. Instead of a spinach salad, I'll have a lettuce salad.'"

Do you Really Want to Know?

While the West family said they do not regret their choice to sequence their genomes, the family's decision has raised the question of whether it is worth sequencing children without medical necessity.

"Adults always make those decisions for their children," John West said. "And you have to make choices as you go through life, and you try to make the best choices. If you don't act, that's also a choice."

Many doctors and ethicists argue that while DNA data may prove medically useful, there is not enough evidence of benefit to warrant testing healthy children.

  • 1
  • |
  • 2
Join the Discussion
blog comments powered by Disqus
You Might Also Like...