Gene tests can provide health clues — and needless
Worry
NEW YORK — Last year, Katie Burns got a phone call that shows what can happen in medicine when information runs ahead of knowledge.
Burns learned that a genetic test of her fetus had turned up an abnormality. It appeared in a gene that, when it fails to work properly, causes heart defects, mental disability and other problems. But nobody knew whether the specific abnormality detected by the test would cause trouble.
“I was pretty distraught,” says Burns, a photographer in Charlotte, North Carolina.
It took two months to get more reliable information, and Burns says she wasn’t “from the sickest of the sick really sure of the answer until to living well, working and after she gave birth in Octoenjoying their life.” ber to a healthy boy.
The problem, Tapper said, Her experience is a glimpse is that “we do not yet have into a surprising paradox of a highly effective treatment modern-day genetics: Scienfor alcohol addiction.” tists have made huge leaps
The new study found that in rapidly decoding people’s men were twice as likely to DNA, but they sometimes die from cirrhosis and nearly don’t know what their findfour times as likely to die ings mean. They can even from liver cancer as women. get fooled.
The study also found whites, That can come to a head Native Americans and Hiswhen medical professionpanic Americans are expe- als have people tested for riencing increased death genetic variants that cause rates for cirrhosis, along or promote a disease, usually with people living in Kenbecause they show symptoms tucky, Arkansas and New or an illness runs in their famMexico. The one positive ily. The testing often focuses report from the study is the on relatively rare disorders, declining rate of deaths in caused by a single gene. Asian-Americans from both Americans are interested cirrhosis and liver cancer. in what their genes say about
“Scar tissue is silent, develtheir health. Poll results oping silently, and they (the released Thursday by The patients) don’t know. It comes Associated Press-NORC Cenas a big surprise,” said Jessica ter for Public Affairs Research Mellinger, a clinical lecturer found that 60 percent would at the University of Michi- want to know if they carried a gan who was not involved variant associated with even in the study. Patients typi- an incurable disease. cally experience the sympBut DNA test results can be toms “all of a sudden,” Melpuzzling. Katie Burns’ fetus linger said of patients suffer- had what experts call a “variing from cirrhosis. ant of uncertain significance,” Medicine is getting into genetic testing in a big way. One recent estimate found nearly 75,000 health-related DNA tests being marketed by American labs to health care providers, mostly for single-gene disorders, with the total growing rapidly.
And this year, the Pennsylvania-based Geisinger health system began offering free genetic testing to its patients as a standard part of its disease prevention efforts, along with things like mammograms and cholesterol checks. or a VUS. Many are known: One standard database con- tains almost 193,000 vari- ants categorized as a VUS, more than twice the number of listed variants known to cause disease.
Each variant may be seen in only one or a handful of patients. But as a group, many thousands of them are being reported to patients, said Heidi Rehm of Boston’s Massachusetts General Hospital and the Broad Institute in Cambridge, Massachusetts.
The rates vary by disease. In seeking genes to explain a patient’s hearing loss, for example, around half of tests will find only a VUS, she said. A child with symptoms that suggest developmental delay or a related disorder might get a test that examines 200 genes, she said. With such a wide net cast, the chances of a VUS are nearly 100 percent, she said.
Kendra Snyder, of Newton Hamilton, Pennsylvania, recalls being told by her genetic counselor “just to live your normal life” after VUS results this year. She had taken the test because of a heart condition.
“I was a little upset,” she said. “I was hoping I’d have more conclusive answers as to why my heart is like this.”
But u pon reflection, she said, she realized she shouldn’t stress over it, because doing so would reduce her quality of life.