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Do-It-Yourself Genetic Tests Raise Questions for Consumers

The map of the human genome - completed 5 years ago - has paved the way to new tests for diagnosing human illness. Some of those tests - which indicate risk for diseases like cystic fibrosis, breast and ovarian cancers - are part of a growing home market for do-it-yourself genetic tests.

Alison (not her real name), 32 is a magazine editor. She has a baby and is worried about her future. Breast cancer runs in Alison's family. Its most recent victim was her mother. "My cousin had cancer," she says. "My aunt had cancer. My grandmother had cancer. All the women on this side of my family have all had breast cancer and all have had it at a young age."

Alison suspected she had the gene and was tested at a medical center. She tested positive. Working with a genetic counselor she decided to take a radical step for an otherwise healthy woman and had both of her breasts removed. "I know I made the right choice, and it is a sense of empowerment," she says. "I feel like I have control. When women get cancer or men get cancer, cancer controls their life, and I didn't want to wait for it to happen to me. I want to be proactive and get it before it got me."

6 months ago, a San Francisco-based company called DNA Direct began marketing a home breast cancer test. The company's Chief Executive Officer, Ryan Phelan, says the results don't end up in publicly-accessible medical histories. Rather they are private and controlled by the customer. "There is a concern that you may be taking a genetic test that shows a predisposition to something like breast cancer," she says. "So why should you be flagged by the health care industry as a breast cancer patient? You're not. You are just carrying a risk for breast cancer."

Alison, the woman with a family history of breast cancer, agrees that patients should not be discriminated against because they test positive for a certain gene. But she says at-home testing can bypass medical professionals at a critical time. "You are talking about cancer," she says. "You are talking about potentially your life here. It was so important to me in my experience to have a nurse who was sympathetic, who I could look in the eye and she could talk to me. When you are getting a response back that you have this genetic mutation, that your possibilities of getting cancer are really high, you need that one-on-one, face-to-face connection."

Ryan Phelan of DNA Direct says her company does not leapfrog the medical system. Counselors and doctors are available on-line and on the telephone to discuss detailed customer reports. She says the tests are popular because the results can help customers make decisions that lead to lifestyle changes that can prevent disease.

"I think that the day is coming where testing is telling us more," she says. "What drugs are effective for us, what medications might be most useful, what risk do we need to be most concerned about. And I think that at-home (genetic) testing is the beginning of people beginning to utilize this information to integrate more (fully) their health care, everything from the decisions we make regarding diet and exercise, to (taking) vitamins, to seeing alternative providers for chiropractic care."

Bea Leopold, Executive Director of the National Society of Genetic Counselors, warns potential users of the new do-it-yourself genetic tests to proceed with caution. Her organization represents 21-hundred genetic counselors nationwide. "Are these people board-certified genetics professionals?" she asks. "Do you have all the information about what you are thinking you are getting tested for? And are you prepared if other information comes back, to deal with that in an open way?"

Ms. Leopold adds that it is important to talk with someone who is qualified to interpret the genetic testing results, and who can provide informed advice on decisions that can affect your future health.