Heath Buckmaster has a low chance of having restless leg syndrome, average likelihood for cluster headaches and "wet" earwax. The Intel technology manager -- who does have cluster headaches -- also has a 72 percent chance of having blue eyes. His eyes are grayish green.
Buckmaster learned these tidbits by spitting into a vial, which he mailed to the California company 23andMe. Its lab screened cells from his saliva for changes at roughly 580,000 points in his 3 billion-letter DNA code, comparing his results to scientific studies that link genetic variation with health and human ancestry.
The final report says where Buckmaster's ancestors likely originated (Europe); whether he carries genes for rare genetic diseases such as maple syrup urine disease (he does not); and his risk level for some ailments influenced by genes, including diabetes and psoriasis.
As technological advances make genetic testing ever cheaper, more Americans have the option to buy tests exploring their genetic heritage. At least four companies now offer to sell tests to consumers, promising to do everything from helping you find your ancestors to averting the birth of children with genetic ailments. But the direct-to-consumer tests haven't been very popular with buyers or with health professionals, who say they are an expensive way to get what may be little more than imprecise suggestions about your health.
Buckmaster paid $350 for the test, which usually costs $499, through a discount 23andMe has been offering Intel workers for a few months now. He is one of perhaps 60,000 people worldwide who have sent spit to private companies that sell genetic testing directly to consumers. The companies say the tests offer information about disease risks that can help clients stave off illness or improve health -- though no studies have shown that the tests' users actually improve their health habits. Some consumer genetic tests also offer information about ancestry and what might be called genetic trivia, such as the fat content of your earwax.
The tests are controversial, with some questioning the privacy implications of the testing companies holding genetic information. Others worry the company's reports may overstate how much genes influence disease or make genetic tests' often-uncertain results seem too precise.
"They are useless," said Dawn Nafus, an Intel anthropologist who won't be getting tested. "Even if I were at risk for some cancers, what would I realistically be prepared to do other than eat healthy, exercise and get regular screenings? These are things everyone should do anyway. I have no interest in living in fear."
Doctors have used genetic tests to help diagnose and counsel patients for more than 20 years. But those tests are very different from the consumer tests. Doctor-ordered tests almost always look for a specific disease risk indicated by a patient's family history or symptoms. Such tests are often covered by insurance and include help from a trained genetic counselor to understand the results.
Ideally, people would get counseling before ordering a genetic test, said Allison Gregory, an Oregon Health & Science University genetic counselor. A counselor might be able to reassure someone they face a low risk and don't need the test. And people should consider what they would do with a test result, Gregory said: You may not want to know if you have a condition if there is no treatment you could or would want to have.
Counselors also consider a person's individual health and family history to help estimate how a genetic finding might impact their health or that of family members.
"Negative isn't always negative," Gregory said. "Nothing is that black and white in genetics."
A certain gene form might appear low-risk, for instance, while still leaving a high chance of getting a common disease, including cancer.
"About 10 percent of cancers are considered hereditary," said Nancy Ledbetter, a cancer risk counselor with Providence Health & Services. "The vast majority of people who end up getting cancer are going to have a negative test."
And even if a genetic test shows an unusual gene, "we don't always know 100 percent what the risk is," Ledbetter said. Genes can have many mutations, and if someone has a rare form, doctors might not know how it changes risk. In that case, they usually look to family history as a guide.
Consumer testing companies address the complexities of genetics in different ways. The 23andMe report includes relative and absolute risk for a disease based on someone's ethnicity, age and genetic information, said Stewart Ellis, who works on the company's Intel account. For instance, Ellis said, a report may show the average lifetime risk for a disease as 11 out of 100 and an individual's risk at 25 out of 100. Ellis said 23andMe doesn't offer counseling but will refer clients to genetic counselors
Navigenics, a competing company that offers an Intel discount, employs genetic counselors for clients or their doctors to call. Navigenics' test usually costs $999 and focuses on a smaller number of health conditions, not ancestry.
Several other players are trying to make it in private genetic testing, a business struggling with low demand. Both Navigenics and 23andme have laid off workers, and offered discounts to court business. Competitor deCODE filed for bankruptcy last year and was bought by a private investment group, Saga Investments. The company still offers its deCODEme personal test and says it will start using its genetic data to help drug companies design products.
Where it started
Intel's discounts grew out of a 2009 speech 23andMe's founders gave as part of Intel's Beyond the Cube speaker series. After the speech, an Intel worker asked about the tests, and the company negotiated discounts with 23andMe and Navigenics. Intel does not pay for the program in any way, participation is optional, and the company won't know who gets tested, said Bill MacKenzie, an Intel spokesman.
Reactions to the discount offers vary. Nafus said she worries how test results may be used. A 2008 federal law bans insurers or employers from discriminating against individuals because of genetic test results. But an Intel anthropologist wondered if companies could pool and "data-mine" anonymous test results to find small pockets of risk, such as a ZIP code where women more often share some genetic form. She also worries companies and society will focus too much on genetic risks to label people or sell services.
William Bickford, Intel operations manager, said he was "hesitant" when he read about the tests, wondering "if I really wanted to know what could be wrong with me in the future." But he is interested in knowing more about diseases that appear in his family tree, including heart disease, diabetes and some cancers.
Buckmaster's report included
"I am ABSOLUTELY glad I ordered it," he wrote in an e-mail interview. "Anything that gives me insight into what's inside is pretty cool in my book."
For more information
Heath Buckmaster's blog: www.buckmasterflash.com
National Institutes of Health: www.genome.gov/ 12010659
American Society of Human Genetics: www.ashg.org/pdf/dtc_statement.pdf
Federal Trade Commission: www.ftc.gov/bcp/edu/pubs/consumer/health/hea02.pdf