Birth-defect tests bewilder both doctors, parents-to-be

From: Orlando Sentinel, FL - Aug 3, 2004

Preventable problems still plague the convoluted, ethically complicated prenatal-screening system.

By Amy Harmon The New York Times

August 3, 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 had a normal pregnancy.

It was not until her son, Benjamin, was born that she discovered he was deaf. And it was not until a few weeks later that she learned a simple blood test could have alerted her to that possibility even 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 a year old, for the world. But she is one of many people demanding to know why screening tests for certain genetic 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, making a value judgment about abortion, disabilities or 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 they say are reluctant to endorse scientifically valid tests for fear of exposing their members to lawsuits.

Medical professionals say they need to assess which of the hundreds of tests that have become available are most useful for any given patient. They also say they don't want to alarm people by suggesting they be tested for conditions that are rare.

Even though someone might want to assess the risk of every known condition, these experts say, such an approach would not justify the public health expense.

"We're seeing the growing pains in the field of genetics," said Alan E. 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."

In the meantime, patients say the lack of basic information about DNA tests is altering lives in the three areas where the tests are available: prenatal screening, newborn screening and screening for some cancers and other adult diseases.

Coveler, who was completing her doctorate in genetics during her pregnancy, said she was incensed when she realized the chance of two hearing parents having a child with her son's form of deafness was higher than that of 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 screening test for the gene might be appropriate -- particularly for Ashkenazi Jews, because 80 percent to 90 percent of inherited deafness in their children is caused by mutations in the gene.

But Ostrer said almost no one offered it, including the genetic counselors he supervises, because of opposition from advocates for the deaf who argued that deafness was not a disease.

Even for conditions that are not so culturally sensitive, there seem to be few clear guidelines about which tests genetics laboratories and health-care practitioners should 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 does not recommend routine screening for Fragile X, the most common inherited form of mental retardation. Yet the number of couples at risk of having a child with Fragile X is almost double the number of those at risk of having one with cystic fibrosis.

The Fragile X test typically is offered only to women who know of a relative with mental retardation. But many families have had a second affected child by the time they learn they're at risk of passing on the genes for the condition, said Brenda Finucane, director of genetics services at Elwyn, a nonprofit organization in Pennsylvania that serves people with developmental disabilities.

Finucane and other critics suggest the obstetricians' society fears an endorsement of the Fragile X test would give patients a better malpractice claim against its members.

Several 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.

Genetic tests can range from $100 to several thousand dollars and might not be covered by insurance, medical professionals point out. And it's unclear how best to evaluate the emotional costs to patients.

Dr. Miriam Kupperman, an expert on medical decision-making at the University of California, San Francisco, says most evaluations of prenatal screening tests focus only on the costs per the number of cases identified, rather than quality-of-life considerations.

Such calculations, Kupperman suggests, ignore the emotional cost of having an abortion or of taking care of an ill or disabled child.

The lack of consensus on genetic testing may be even more apparent with newborn screening, which, unlike prenatal testing, is regulated by state governments. It is possible to perform DNA tests for more than 30 diseases within a few days of birth, and pediatricians say early intervention can significantly improve an affected child's quality of life.

But some health officials say the cost of the tests is not justified by the small number of cases they identify.

Parents can pay to have additional tests performed, but they are often unaware that this is an option.

And with breast cancer, where genetic testing has been widely accepted as a useful tool in making decisions about prophylactic surgery, patient advocates say doctors too often don't know about such testing or discount its value.

One basic problem, health-care experts say, is that doctors who didn't learn genetics in school must make time to educate themselves.

And even if they have the knowledge, many doctors who feel squeezed by a managed health-care system say they don't have the time to learn every detail of their patients' history. Patients, they say, may need to research their family backgrounds and learn which tests might best apply to them.

"We have a technology that can radically change outcomes, and the system to deliver it has broken down," said Elliot Vichinsky, director of the Northern California Thalassemia Center at Children's Hospital in Oakland.

© 2004 Orlando Sentinel Communications