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The impact showed up two years later in Massachusetts, one of the few states testing newborns for the disease at the time. Births of babies with cystic fibrosis dropped, from 29 in 2000 to only 10 in 2003, ticking up to 15 in 2006, said Dr. Richard Parad, a Brigham and Women's Hospital physician who helped set up the screening program.
In California, Kaiser Permanente, a large health maintenance organization, offered prenatal screening. From 2006 through 2008, 87 couples with cystic fibrosis mutations agreed to have fetuses tested, and 23 were found to have the disease. Sixteen of the 17 fetuses projected to have the severest type of disease were aborted, as were four of the six fetuses projected to have less severe disease.
Comparisons to couples not given prenatal screening suggested that screening had cut births of babies with severe disease in half, researchers reported at a genetics conference in 2008. Studies in Canada, Italy, Australia and in Europe also found that cases dropped after screening began.
The Cystic Fibrosis Foundation's registry, which tracks voluntarily reported cases, shows a steady rise in recent years. But that is because more states have started testing all newborns, discovering cases that previously went unreported, some researchers believe. In December, Texas became the final state to add such testing; the first reliable national estimate of cases is expected in a couple of years.
Beth Meese, the Cleveland nurse who discovered from prenatal tests that she and her husband are carriers, wishes they had been screened before pregnancy. By the time they learned of their risk, they had seen an ultrasound and decided to have the baby no matter what its tests showed.
"We saw the baby, saw it moving," she said. "It makes that decision that much more difficult to make."
Gene testing hasn't led to declines in all diseases. Sickle cell, a blood disorder that causes anemia and pain and raises the risk of stroke, has not dropped. It mostly afflicts blacks; gene carriers are said to have sickle cell "trait," which sounds harmless.
"Now we're actually learning that it's not as benign as we thought it was," and that carriers have higher risks for certain medical problems, said Dr. Lanetta Jordan, a Florida physician and chief medical officer of the Sickle Cell Disease Association of America.
Newborn screening is finding more sickle cell carriers and cases, but this doesn't seem to affect parents' future family plans, Jordan said.
Gene testing also has had little impact on Huntington's disease, a progressive, fatal neurological disorder. Unlike many other inherited diseases, only one bad copy of a gene is needed to cause Huntington's, and symptoms don't usually appear until middle age, after many have already had children.
Fewer than 15 percent of people in families with a history of it agree to be tested, said Kimberly Quaid, an Indiana University genetics researcher.
"They just prefer to live their life and hope for the best," she said.
Jeff Carroll, the Canadian who, with his wife, screened embryos because he carries the Huntington's gene, said it is "unconscionable" to procreate without taking steps to prevent passing on the disease. "Having my test result has immensely improved my life. I was able to make reproduction decisions that ended HD in my family," and to launch a career as a biologist researching the disease, he said.
The number of fertility treatments that include embryo screening has been on the rise in recent years, with nearly 5,200 screenings in 2006, according to the Society for Assisted Reproductive Technology. Carrier testing also is rising. A California company, Counsyl, sells a $349 saliva test for genes for more than 100 inherited disorders. Several thousand people used it over the last year, the company reports.
Eliminating disease is a noble goal but also "should give us pause," Lerner, the Columbia historian, wrote recently in the New England Journal of Medicine.
"If a society is so willing to screen aggressively to find these genes and then to potentially to have to abort the fetuses, what does that say about the value of the lives of those people living with the diseases?" he asked.
It's a touchy issue. The Cystic Fibrosis Foundation points out that the disease varies greatly in severity, and life expectancy with it is now 37 years.
Diseases like familial dysautonomia and Tay-Sachs, which kill before school age, are easier cases. If one of those vanishes, "thank God," said Rabbi Ekstein of the Jewish testing group. "It gives me a very good feeling that we are a part of such lifesaving efforts."
On the Net:
March of Dimes:
National Human Genome Research Institute: http://www.genome.gov/19516567
American College of Medical Genetics: http://www.acmg.net/
Copyright 2010 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.
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