When the test that's needed isn't offered

From: Chicago Tribune, IL - Jul 26, 2004

Families often don't know--and aren't told-- about important genetic screens before birth

By Amy Harmon
New York Times News Service
Published July 26, 2004

When Karen Coveler and her husband began trying to have a child, she told her obstetrician that she wanted to take all the DNA tests she could to determine whether she was at risk of passing on a genetic disease to her child.

Based on her Ashkenazi Jewish background, Coveler was offered 10 tests, all of which were negative, and she went on to have a normal pregnancy.

But when her son, Benjamin, was born she discovered he was deaf. And a few weeks later she learned a simple blood test could have alerted her to that possibility before conception.

"They told me the test is not offered because the condition is not considered to be 'severe' or 'life-altering,' which I find very difficult to swallow," said Coveler, 30, of Houston. "It certainly has been life-altering for myself and my son."

Coveler says she would not trade Benjamin, now 1, for the world. But she is one of many people demanding to know why screening tests for certain conditions, including deafness, mental retardation and breast cancer, are not being offered to them--even, in some cases, when they ask.

Too many health care providers, critics say, have not educated themselves about the genetic tests that could benefit their patients. Others, pressed for time, simply don't communicate what can be complex information. And some choose not to inform their patients of certain tests they have deemed inappropriate--in effect making a value judgment about abortion, disabilities and risk that patients say they have a right to make for themselves.

Some critics also blame the professional societies that set policy for specialists, which critics say are reluctant to endorse scientifically valid tests for fear of exposing their members to lawsuits. As a result, advocates for patients say, the medical profession is failing to deliver the benefits of the genomic revolution.

Medical professionals say they need to assess which of the hundreds of genetic tests that have become available in the last decade are most useful for any given patient. They also say they don't want to alarm people unduly by suggesting they be tested for conditions that are rare. They say such an approach would not justify the public health expense.

'Growing pains'

"We're seeing the growing pains in the field of genetics," said Alan Guttmacher, deputy director of the National Human Genome Research Institute at the National Institutes of Health. "As with any new technology, it takes time both to figure out what is the right thing to do with it and to get it done."

Coveler said she does not hold her doctor responsible for not offering the test. Rather, she says, the medical community in general should be more open about genetic testing.

Had she known that her child had a 25 percent chance of being born deaf, Coveler said, she would have had a test during her pregnancy. The knowledge would have allowed her to line up early therapies and avoid the two weeks of wondering, before Benjamin's diagnosis, why her son didn't react when the dog barked and why he could sleep so soundly in a roomful of noisy relatives.

Coveler, who was completing her doctorate in genetics during her pregnancy, said she was particularly incensed when she realized that the chance of two hearing parents having a child with her son's form of deafness was higher than that of many other genetic conditions for which patients are routinely offered DNA tests.

Dr. Harry Ostrer, director of the human genetics program at New York University Medical Center, suggested in a scientific journal article six years ago that a routine test for the gene affected in Coveler's son case might be appropriate--particularly for Ashkenazi Jews, because 80 percent to 90 percent of inherited deafness in their children is caused by mutations in that gene. But Ostrer said that almost no one offered it because of opposition from advocates for the deaf who argue that deafness is not a disease.

"If people ask us, 'What about that deaf test I heard about?' we will tell them about it," Ostrer said, "But we aren't more proactive about it because of the sensitivities of the deaf community."

Even for conditions that are not so culturally sensitive, there seem to be few clear guidelines about which tests to offer to which patients. Three years ago, the American College of Obstetricians and Gynecologists recommended that the test for cystic fibrosis be mentioned to all people seeking preconception or prenatal care.

But the group, to which most obstetricians look for guidance on genetics, does not recommend routine screening for Fragile X, the most common inherited form of mental retardation, even though the number of couples at risk of having a child with Fragile X is put at almost double the number of those at risk of having one with cystic fibrosis. The Fragile X test is typically offered only to women who know they have a relative with mental retardation.

Because Angela Ross did not, she was never told about the test. The condition was recently diagnosed in her 17-month-old son, Brett.

'Why aren't you telling me?'

"I'm amazed that it's not even mentioned when they're discussing genetics at your initial appointment," said Ross, a lawyer in Boothwyn, Pa. "Why aren't you telling me I have a choice to get tested for other things besides Down syndrome and cystic fibrosis?"

Brett's condition was diagnosed early. But many families have had a second affected child by the time they find out that they are at risk of passing on the genes for the condition, said Brenda Finucane, director of genetics services at Elwyn, a non-profit organization in Pennsylvania that serves people with developmental disabilities.

Finucane and others suggest that the obstetricians' group fears that an endorsement of the Fragile X test would give patients a better malpractice claim against its members. A handful of "wrongful birth" lawsuits against doctors who fail to diagnose a fetus with a genetic disease have hinged on whether a test is viewed as a widely accepted practice by other clinicians.

Dr. James Goldberg, chairman of the society's committee on genetics, said the question of whether to recommend Fragile X testing for all couples was under consideration but there was no deadline for a decision.

"A lot depends on the severity of the disorder and what the cost of that disorder ends up being, in a dollar sense and emotionally," said Goldberg, an obstetrician and geneticist at the University of California, San Francisco. "Obviously for someone who has a fetus with a rare disorder, their question is, 'Why wasn't I tested?' and I understand that. It just may not make sense on a population basis."

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