Advice from LDS Hospital Genetics Experts

SALT LAKE CITY, UT (4/23/2009) – National DNA Day — which is this Saturday, April 25 — is a good time for Utahns to review their genetic risks for certain diseases and start taking steps to avoid them. And some advice from genetic experts at LDS Hospital's Clinical Genetics Institute: If you take one of the increasingly popular home genetics tests, make sure you get a reliable interpretation.

National DNA Day has been celebrated since 2003, when it was created to commemorate the discovery of the DNA double helix in 1953 and the completion of the 13-year international effort that identified the order, or sequence, of more than 3 billion building blocks in human DNA.  It’s an annual highlight for the Clinical Genetics Institute, which provides testing, diagnostic and counseling services to adults and children in Utah. In addition, its staff members evaluate advances in genetic medicine, develop new genetic intervention protocols, and learn how to apply genetic information to disease prevention and treatment.

A personal experience with home genetics testing: When Grant Wood began the mundane task of filling a test tube with his own saliva, the senior information technology strategist with the Clinical Genetics Institute at LDS Hospital wasn't sure if he was more interested in what made him unique or what hidden traits might be discovered. Was he going to suffer from a genetic mutation he didn't know about? Were his chances for certain diseases heightened by genes passed down from relatives?

But Wood wasn't just playing games in the genetics lab.  He was enrolling in a direct-to-consumer genetics service, the latest approach to healthcare and personal health issues, a trend Wood says is both intriguing and a sort of Pandora's Box.

Why?  "In an age when access to information is so much greater, it stands to reason that information about ourselves should also be more accessible," says Marc Williams, MD, director of the Clinical Genetics Institute. "The problem is, most people don't understand what the results of these in-home tests really mean for them individually, nor are healthcare providers adequately trained to help with the interpretation of the results."

Knowledge is power — if it’s understandable.  More simply put: You've got to have someone help guide you through the background information to make it truly meaningful or "personalized" for you.

Wood had been watching the in-home genome test market begin to rise and was curious about what a $399 service from a company named 23andMe might tell him about himself. So he ordered the test, filled the test tube with spit, sent it off in the mail, and waited.

"Working in the genetics field, I'm aware that just because I have certain genetic variants, that doesn't mean I'm destined to something I can't control," Wood says. "This is a trend that’s only going to grow in popularity as we seek out ways to communicate with our healthcare providers, prevent illness, and remain healthy. But unfortunately, many physicians aren't prepared to interpret lab results by looking at a portion of my DNA."

Personal gene testing isn't new, but it’s more affordable than before. Although some medical experts are critical about the quality of the analyses and whether the information could hurt the consumer, Wood believes — as do the providers of these services — that knowledge is power.

Linda Avey, the co-founder of 23andMe, says, "Genetic information will become a vital piece of personal information for patients and physicians to consider when making healthcare choices.  While we’re still in the early stages of understanding the role genetics plays in the development of health conditions, we believe it’s important to educate both consumers and physicians about the meaning and significance of the information so it can be used appropriately as more and more genetic discoveries are made."

Take Wood's discovery of his increased risk of Crohn's disease and prostate cancer. Now that he’s aware of his elevated predispositions, he can research and learn more about the diseases, and take preventive steps to avoid them for himself or his children.

The 23andMe website tells him his risk for Crohn's is 2.6 times the population for his age and European ethnicity. But the report also tells him that with his genes, the chances are less than 1 percent (0.28%) that he’ll develop Crohn's, and that only 50 to 60 percent of the occurrences of the disease are attributable to genetics. The rest is due to environmental factors such as diet or bacteria.

The Crohn's risk score has even come down a bit since his first report. Because the knowledge in genomics and clinical risk keeps getting updated, so does the interpretation of Wood's data.

"The knowledge contained in a genetic test, and what it means for my future, is only one component of what affects my healthcare experience," says Wood. "People need to understand the complete medical, family health history, and non-genetic or environmental factors that cause genes to behave differently, and they should be added together to anything found in my DNA sequence."

Avey concurs. "Getting one's genetic information can be very empowering. These data will play a critical role in better understanding our health and identities. We also recognize that more research is needed, and we're providing a way for our customers to get actively involved. Through our online research program, 23andWe, customers can participate in research studies by contributing information about their health status.”

Through a pilot project he’s currently working on at LDS Hospital's Clinical Genetics Institute, his genetic test data could, in the near future, be imported into his Intermountain Healthcare electronic health record, which could help doctors make more accurate clinical decisions, personalizing the prescribing of drugs and treatments.

“The future of this kind of testing is exciting,” says Wood. “People are also mixing a healthy dose of genealogy and genetics together to better understand their ancestors and improve the medical lives of their descendants.”

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