Panel says gene testing not ready for prime time

The Associated Press
Wednesday June 27, 2001

SAN DIEGO — Starting in August, expecting couples can walk into an obstetrician’s office and ask to be tested for any of 24 variations of the gene that causes cystic fibrosis. 

Until now, such tests have generally been used only for populations known to have a prevalence for certain diseases, such as sickle-cell anemia among blacks and Tay-Sachs disease among Ashkenazi jews.  

The new CF test will break that barrier, targeting all expecting couples. 

But instead of being excited, doctors said Tuesday that their feelings on genetic testing range from overwhelming confusion to frustration to depression. 

“I have a more pessimistic outlook,” said Stan Eisele, a Carlsbad doctor, after listening to a panel on the issue during this week’s BIO 2001 conference of biotechnology professionals in San Diego.  

“The industry wants it to go away. They don’t want to face it.” 

There are already hundreds of genetic tests that can do everything from diagnose CF to determine a higher risk for breast cancer.  

But the barriers keeping genetic testing from the mainstream are many and serious, the panelists said. Also: 

• Many insurers are balking at covering such screenings, which can cost as little as $100 or more than $1,500. 

• Most states – California being a notable exception – have no licensing programs for counselors in genetic testing. 

• Doctors, already pressured by health maintenance organizations to keep patient visits short and costs low, say they have no time to administer genetic tests or conduct counseling on them. 

• The doctors also remain woefully undereducated on what these tests can offer or how they work. 

“The education system is not providing much in the way of sophistication of the notion of genetic testing today,” said Reed Pyeritz, a professor at the University of Pittsburgh School of Medicine.  

“It is totally inadequate for what is coming.” 

Already, about 400 tests can screen for single genes that cause specific diseases. Many such tests, such as the one for CF, are the only way to tell if a patient really has a certain condition, panelists said. 

Other tests merely indicate a higher risk for a disease.  

For example, one test can recalculate a woman’s odds of getting breast cancer from the typical 11 percent to a more frightening 60 to 80 percent. And still others are more specific, predicting Huntington’s Disease with near certainty, for example. 

Such tests aren’t as new as many might think. More primitive genetic tests for cystic fibrosis have been used since the mid-1980s, panelists said. The CF gene itself – not including its roughly 1,000 mutations – was isolated in 1989. 

Still, it will take until at least 2010 before genetic testing is widely accepted or even discussed, Pyeritz said. The main hurdle: acceptance by insurers. 

The Food and Drug Administration, which regulates such tests, typically takes 90 to 180 days to approve a new screen. But it can take an additional three to five years to convince insurers that such tests are necessary, said Michele Schoonmaker, director of medical reimbursement at Vysis Inc., which makes genetic testing products for cancer, prenatal disorders, and other diseases. 

The reason for the information gap is simple, said panelist Michael Watson, executive director of the College of Medical Genetics in Bethesda, Md. Before the race to map the human genome heated up, the public had little interest in genetics, and researchers kept themselves isolated. 

“It has been a very small group of people delivering genetic services and who have been involved in genetics research,” Watson said.  

“And that is one of the reasons why the regulatory agencies, the reimbursement agencies and most of the bodies that we have to deal with have very little knowledge of what we do.” 

But doctors and their patients will soon be barraged with more and more genetic testing options, panelists said. Researchers have already linked 11,000 diseases to specific genes. 

“This has caught the practitioners totally unaware,” Pyeritz said after the panel. “There needs to be more education for physicians, and more for patients and their partners.”