What if you could learn whether your baby is at risk to one day develop a painful or incurable disease? Should you send off a sample of saliva and a check for $399 to find out?
Anyone thinking about retail DNA testing should make sure they know what they’re getting into and consider the consequences, say three Metroplex physicians who have made their life’s work in genetics. Without proper interpretation, test results can create needless worries.
Dr. Angela Scheuerle, a clinical geneticist at Medical City Hospital in Dallas, likens screening without counseling to getting a computer printout about your car’s systems without having a mechanic to explain what it means.
Even Joyce Tung, a human geneticist and senior scientist at one retail testing site 23andme.com in Mountain View, Calif., emphasizes that its reports can’t provide definitive answers.
“This isn’t destiny,” she says. “It’s just one factor in a host of other factors that will lead one way or another.”
So, why bother? With extensive counseling from a trained medical professional (usually not part of the package with Internet screening tests), informed parents could, for example, adopt a healthier lifestyle for a child who might develop diabetes or recognize the symptoms when Crohn’s disease develops.
Tung says her own genetic screening was an intriguing way to bond. “Doing this with my family has been a really rewarding experience — seeing what you share, what you don’t share,” she says. “It’s not for everybody, but I think you can really learn a lot and have a lot of fun, as well.”
At the other end of the spectrum, parents should also consider whether they want to learn early about an incurable ailment. The answer is a matter of personal preference, but the frightening possibilities mean that meeting with a physician first — before sending off the test tube — is crucial, say area experts.
Important, intertwined factors come into play, among them family history, environment and the data backing up the probabilities.
“The main message I’d like to see the public get is don’t waste your money. Talk to someone first. Start with your family doctor, “ says Dr. Mary K. Kukolich, a North Texas clinical genetics medical director.
What Parents Should Know
Scientists expected amazing advances in medicine when the Human Genome Project was completed in 2003. The international effort identified all of the genes in human DNA, some 20,000-25,000 blueprints that determine our physical traits.
Dr. Lewis Waber, pediatric geneticist at UT-Southwestern and Children’s Medical Center of Dallas, says physicians thought that “we would pretty quickly figure out what specific genetic changes cause the risk factors for some of the common things we all worry about.”
It didn’t turn out that way. “Every five years, we say in five years we’ll really know about it,” Waber says. “We’re a lot more complicated than a bunch of individual little genetic traits.”
A case in point is the $149 test for muscle performance advertised by a Colorado company. The hard sell on the home page (at www.atlasgene.com) reads “Finding any great Olympic champion normally takes years to determine. What if we knew a part of the answer when we were born?”
The site explains that the presence of a genetic marker called ACTN3 could indicate a propensity for endurance sports, power sports or both.
Waber says parents cannot take that kind of information at face value, since the basis for this claim was on a study of subjects who were elite athletes. Essentially, Waber explains the tendencies likely would apply only to championship-level athletes, and “if they’re going to be high-level sports participants, they’re going to drift into the ones that they’re better at” anyway.
Scheuerle is blunt about recreational genetic testing. “This goes back to genes aren’t destiny,” she says. “There’s the first problem of since we’re more than just our genetics, testing a child for a particular trait like muscle thickness or height … doesn’t tell you what that child is going to be like.”
These experts urge parents not to forget about plain common sense.
“I’d say if you want to know what kind of sport your child would be good at, have them try it, see if they like it and he’s good at it — it works pretty well,” suggests Waber.
The extreme result of raising a child according to genetic test results is graphically depicted in the movie Gattaca, which portrays a frightening future where children cannot pursue their dreams if their genetics don’t match up. Waber says anybody considering screening for sports or similar reasons ought to take a look at the thought-provoking film.
Waber points out that statistical data taken alone can be confusing, a problem with long-term implications for parents and children.
“I think there’s a real danger that you’d find out that your child has a greater propensity to get something, all you do is worry about it, try to shield them, when the risk is really rather low,” he says.
Notes Scheuerle, “The flip side of that is a ‘normal’ test is no guarantee of normalcy.”
Nervous parents should remember that children sense anxiety even if it’s not overt, says Dr. Krista Werthington, pediatric psychologist at Children’s Medical Center of Dallas. Paradoxically, a parent’s efforts to shield a child can leave him fearful. “They could see the world a little bit differently,”
Werthington says. “They might feel like the world controls them, instead of feeling confident.” Or, she says, children who aren’t sick might begin to act as if they are, after a long period of overprotecting.
Werthington says parents need to think through the impacts on their own psyches — “even parents who think they can handle it just fine.”
Anxious parenting is such a concern for geneticists that the concept was one of the issues discussed at a major bioethics conference in Seattle this summer. “Predicting Our Future: Genetic Testing in Children and Their Families” hosted more than 200 participants from across the nation. A recent study by Dr. Beth Tarini, one of the conference speakers, showed that parents actually were no more concerned about the results of genetic testing for their children than they were about a family history of disease. The study was based on a random sample of 2,857 adults.
Tarini is an assistant professor in general pediatrics and a research investigator at the University of Michigan. Her study was published in November in Archives of Pediatric and Adolescent Medicine.
Improving our children’s lives is an ambiguous concept, with or without genetic testing, notes Tom Mayo, a law professor who is director of the Cary M. Maguire Center for Ethics and Public Responsibility at Southern Methodist University in Dallas.
“Parents make decisions about pushing kids into piano lessons and signing them up for chess lessons and putting them into soccer leagues when they hate soccer,” he says. On the other hand, he says his own son was not a sports star but gained valuable life experience from participating in sports.
In the case of diseases that cannot be prevented or cured, test results “can make many people feel helpless against fate,” says the Texas Medical Association’s statement on genetic testing. However, the TMA counters that some people may want to inform family members and prepare themselves mentally.
When it comes to life-altering questions — for example, deciding whether to stop having children because of test results, or the specter of a child at risk for an untreatable disease — parents have to do some soul-searching. Physicians question whether DNA tests should even be performed for diseases with no known cure. “Genetic testing is wonderful when we can treat patients,” says Kukolich. But she is quick to add that without treatment options and a complete picture of the case, “most of us feel like it’s a misuse of genetic information.”
Wanda Stutsman, a Metroplex cancer survivor with two children, agrees. “I don’t think it’s good to receive any of that information without a physician’s counsel.”
Stutsman says she turned to the Internet after her breast cancer diagnosis and was terrified at what she learned about her children’s risk of potential cancers.
“You need a physician … to help you understand all of it,” she says.
However, Stutsman does see a benefit to having the retail genetic testing as an option. Stutsman, who has a son, 11, and a daughter, 8, says she’ll have both children tested for the BRCA1 and BRCA2 mutations, which indicate a greater likelihood of getting breast cancer and prostate cancer. For her, knowledge is power.
“If my daughter did have it, then it just gives us so much time to plan,” Stutsman says.
Waber says the genetics community recommends that testing for conditions such as a BRCA1 mutation wait until the child is old enough to decide whether he or she wants it.
Stutsman disagrees. “You know how stubborn 18- to 21-year-olds are,” she says. “If they won’t drag their butt to the doctor to get tested and they’re … not taking the right precautions, I, as a parent, am going to just sit back and cringe.”
Stutsman says she’d rather be prepared to provide her kids with options.
The brave, new world of retail genetic testing has so far shaped up to resemble the lawless wild, wild West. While the federal Genetic Testing Discrimination Act signed into law in 2008 regulates insurance companies and employers’ use of data, many aspects still go unregulated. For example, genetic counselors are not yet licensed in Texas, says Kukolich.
Jennifer Lee Rollins is the current president of the Texas Society of Genetic Counselors. She says counselors are board certified nationally, and her group is working with the TMA to introduce a licensure bill this legislative session.
In California, the Web testing company 23andme.com was among 13 genetic testing businesses presented with a cease and desist letter, an order to halt activity, by the state Public Health Department last year. (While not all the companies had labs in California, all conducted business in the state.)
The gist of the letter was that the companies violated California laws regarding laboratory licensing and requiring physicians’ orders for testing.
“We actually met with [public health representatives] and applied for a license from them and they approved a license,” says Rachel Cohen, spokeswoman for 23andme.com. “We have continued operating with their blessing.”
Karen Nickel, the chief of Laboratory Field Services, California Department of Public Health, confirms this assertion.
The paucity of laws in Texas and elsewhere makes it difficult for consumers to gauge a service’s credibility. According to the National Institutes of Health database of genetic legislation, Texas has more than 20 genetics-related laws on the books. However, most relate to matters of privacy or mandatory newborn screening, rather than retail genetics regulation.