Spend a weekend with your family and you can't help but wonder if you've inherited your father's tendency to put on weight or your grandmother's rheumatoid arthritis. Now, with a gaggle of new companies offering direct-to-consumer genetic testing, you can find out without even going through your doctor. Spit in a tube, send in a saliva sample—accompanied by a hefty check—and you can learn if your genes put you at increased risk for a host of conditions, from Alzheimer's disease to restless legs syndrome.
Make better decisions
The tests won't tell you definitively that you're going to get these diseases, but they may help you make informed, even life-saving, decisions about your health. Just ask Lauralee Nygaard. She always knew she had heart disease and diabetes in her family, but the Spokane, Wash., periodontist was blindsided when she suffered a stroke in 2005 at the age of 38. Her doctor was equally mystified, and when three months of testing didn't provide any answers, she suggested Nygaard undergo genetic testing with Decodeme.
Sure enough, the test revealed a genetic variation associated with atrial fibrillation, a heart arrhythmia that can cause strokes, which means Nygaard's stroke was no fluke and she could have another.
Now that she and her doctor know about her genetic risk, Nygaard is more determined than ever to stick to a regimen of heart medications, healthy foods, and regular exercise. "I'm keeping to my program now that I know my risk of having another stroke is high," Nygaard says. "The testing gave me another piece of objective information and offered the chance to alter my path. It helped explain why I had a stroke at 38."
Gain insight
Few people who undergo mail-order genetic screening have such dramatic experiences. In fact, for many the test simply confirms what they already knew—Aunt Minnie and Grandpa Saul had diabetes and you're at increased risk of this disease, too. But for others, genetic testing offers new insights. Terry Drotos, who was adopted at birth, knew nothing of her roots until January when the 54-year-old underwent testing with Navigenics, a company in Redwood Shores, Calif., to uncover some of the secrets of her genetic destiny. Small-boned and always slim, Drotos had never worried about her weight, but the test results indicated she was at a slightly increased risk of obesity and type 2 diabetes, as well as osteoarthritis.
When she shared the results with her 22-year-old daughter, Brittney, the younger woman was stunned. "I never would have thought my mom could be at risk for obesity and diabetes," says Brittney, now more concerned about the extra pounds she put on in college. Though Brittney has not yet undergone genetic testing herself, the information about her mother was enough to inspire her to get fit. She cut out junk food, upped her exercise, and lost 23 pounds.
"I can't say my test results made her change her behavior, but that was certainly part of it," says Drotos, who now feels even more compelled to exercise regularly and stick to a healthy diet.
Boost your health
Companies like Navigenics and Decodeme have designed their testing products to motivate people to make these kinds of lifestyle changes. "We intentionally focus on conditions that are preventable or manageable if diagnosed early enough," says Michael Nierenberg, M.D., medical director of Navigenics. The company scans DNA for markers of 22 health conditions and then tells you how your risk of developing each condition stacks up against the average person. "We want to give people information to help improve their health," says Nierenberg.
Seek genetic counseling
Unlike some of its competitors, Navigenics includes genetic counseling (certified by the Amercian Board of Genetic Counselors) in its package of services. Once the results are ready, consumers can call a trained counselor to help them interpret the findings and formulate questions they can take to their doctors. Other companies provide extensive background information about risk and each disease on their websites, but don't provide personalized counseling. In that case, you may want to seek out a genetic counselor on your own.
Personalize your healthcare
Linda Avey, co-founder of 23andme, a genetic testing company in Mountain View, Calif., says genetic information can pave the way to a system of "personalized medicine." "Someday we'll be able to walk into a doctor's office and hand them our genetic information. Doctors could use this information for diagnosis and treatment. It can tell us which drugs are going to work for us and which we shouldn't take."
Protect yourself
As with all medical information, there's concern that genetic test results could get into the wrong hands. In May, President Bush signed into law the Genetic Information Nondiscrimination Act, which prohibits health insurers and employers from discriminating against people on the basis of genetic information. The provisions of the law that relate to health insurance will take effect by May 2009 and those covering employment will go into effect by November 2009.
Do your homework
Find out what services different genetic testing companies provide, what kind of professionals they have on staff, what they charge, whether they use a federally certified lab, and what their privacy policies are, advises Arthur Caplan, Ph.D., of the department of medical ethics at the University of Pennsylvania.
Know if it's right for you
If you have a family history of a condition linked to a single gene, such as Huntington's disease or breast cancer, it's better to go through your doctor or a company like DNA Direct that tests for specific genetic mutations. If you're just curious, know that you may get results that confirm what you've long suspected, or you may get a surprise: Testing may reveal news you don't want to know and/or can't do much about.
THE PIONEERS IN GENE DECODING
These four companies are leading the way in genetic testing but the field is growing quickly.
Decodeme
decodeme.com
Cost: $985
Service: Decodeme assesses your genetic risk for 29 diseases and traits, including lactose intolerance and brain aneurysm. It offers you the chance to trace ancestry and compare genetic information with friends and family.
DNA Direct
dnadirect.com
Cost: Varies by test from $175 for responsiveness to the blood thinner Warfarin to $3,456 for comprehensive testing for genes associated with breast and ovarian cancer
Service: DNA Direct offers testing for specific health conditions, including breast cancer, blood clotting disorders, and cystic fibrosis, based on family history. It also checks for genetic traits that can affect treatment for particular diseases, such as cancer and heart disease. The company offers preand post-testing counseling services.
Navigenics
navigenics.com
Cost: $2,500 for the initial report and first year of membership, $250 a year for continuing membership
Service: Navigenics looks for markers that have been associated with 22 common conditions that are "actionable," that is, you can do something to prevent or detect them early. The company offers telephone counseling with genetic counselors.
23andme
23andme.com
Cost: $999
Service: 23andme offers a range of personalized genetic information from markers for medical conditions, such as breast cancer, heart disease, and lupus, to other traits such as bitter taste perception, alcohol sensitivity, and earwax type (there are two types: wet is dominant and dry is recessive). Like Decodeme, the service also allows you to compare genes with friends and family and trace your ancestry to Europe, Asia, and Africa.
GENETICS BASICS
Every cell in your body contains DNA, a long molecule that carries the instruction manual (written in 23 pairs of chromosomes) for making you. You have two copies of each chromosome, one from your father and one from your mother. They are written in a code of bases, commonly abbreviated as A, T, C, and G.
On each chromosome are thousands of genes. Variations in your genetic code give you red hair or blue eyes. But single-letter differences in the genetic code (e.g., a G instead of a C) in your DNA can also give you mutations that can predispose you to disease.
Most diseases develop from a mix of genetic and environmental factors, often involving multiple errant genes. Over the past decade, scientists have identified places in the chromosomes where there are differences in the genetic code that can be used as markers (called SNPs, pronounced "snips," short for single nucleotide polymorphisms). Researchers have found that people with certain markers are at greater or lesser risk of developing particular diseases.
Genetic testing companies have developed ways to scan DNA to look for these markers. So if you have some of the markers associated with type 2 diabetes, for example, you may be at increased risk of developing the disease. The companies don't predict you're going to get diabetes. Rather, they tell you the average person's risk of developing the disease and how your risk compares.
Are we ready for genetic testing?
The idea of plumbing the depths of your genetic code may sound tantalizing. But some critics say overzealous entrepreneurs are leaping ahead of the science. "In the last few years there have been many gene discoveries, but to act on the science is premature," says Muin J. Khoury, M.D., Ph.D., director of the National Office of Public Health Genomics. "For the most part, we don't know how to interpret the findings from the research." And some experts question whether the information is ready to be used by consumers. "These companies have not met the standards of a clinical genetics lab in a healthcare setting," says Michael S. Watson, Ph.D., executive director of the American College of Medical Genetics.
Watch for new regulations
State and federal health officials are concerned enough about potential abuses to begin investigating the industry. In June, the California Department of Public Health sent "cease and desist" letters to 13 genetic testing companies, demanding they prove they're in compliance with state and federal laws governing medical procedures. (Some companies are offering tests direct to consumers without an order from a physician.) The American College of Medical Genetics and an advisory committee to the U.S. Department of Health and Human Services are calling for more regulation.
Copyright 2008  Natural Health
