NGF News

December 6, 2006
Post-Gazette.com
Pittsburgh, Pa.

College students flock to screening for Jewish genetic diseases
By By Joe Fahy, Pittsburgh Post-Gazette

Dr. Adele Schneider, left, of the Albert Einstein Medical Center in Philadelphia, draws blood from University of Pittsburgh junior Rebecca Wassell during a screening held Monday at the Hillel Jewish University Center in Oakland to test for such diseases. Ms. Wassell was among 187 students who had the tests. Every week, Jeanne Rogal spends two hours treating herself for Gaucher disease, an inherited disorder that can cause harmful buildup of a fatty substance in the bone marrow, spleen or other organs.

She attaches one syringe, then another to a pump that infuses medication through a device implanted in her chest.

The routine is inconvenient and the medication expensive, costing more than $150,000 a year. Ms. Rogal, 43, of Harrisburg, has twice reached the $1 million lifetime limit on health insurance provided by her employers.

But the treatments prevent health problems that once led to removal of her enlarged spleen and hip replacement surgery.

When her parents, Jay and Barbara Rogal, of Oakland, were married in 1959, there were no screening tests to determine whether they were carriers of the disease or others found among Jews of Eastern European descent, known as Ashkenazi Jews.

But tests have since become available, and 187 local Jewish college students lined up Monday to have them.

"I'm ecstatic," said Shoshana Rosen, 22, a University of Pittsburgh student who helped organize the screening. She said she would have been pleased if about 100 students had turned out.

The voluntary testing was offered at no cost to students 18 and older at the Hillel Jewish University Center in Oakland. They will receive test results in four to six weeks.

Katie Bosk, 18, a Pitt freshman, said she was "really, really scared" about having her blood drawn. But she added, "I think it's really important to make sure you get tested."

Jonathan Finger, 23, another Pitt student, said all Jewish people should consider getting the tests before they get married.

The screening focused on nine diseases that are often carried by Ashkenazi Jews. Children of parents who carry the same disease are at risk of having the condition or of being carriers themselves.

Several of the disorders, including Tay-Sachs disease, Niemann-Pick disease type A, and Canavan disease, can be fatal within the early years of life. The screening also focused on Bloom syndrome, cystic fibrosis, familial dysautonomia, Fanconi anemia type C, Gaucher disease type 1, and mucolipidosis IV.

The diseases can cause a variety of serious health problems, including susceptibility to infection or cancer, muscle weakness and mental retardation. In many cases, only limited treatment is available.

While inherited diseases can occur in all populations, some are more common among Jews or members of other communities, such as Amish, that tend to marry among themselves.

Monday's event was sponsored by the Victor Center for Jewish Genetic Diseases at Albert Einstein Medical Center in Philadelphia. The Victor Center has held similar events at the University of Pennsylvania and Tufts University and is working to hold screenings at other colleges, said Dr. Adele Schneider, director of clinical genetics at the medical center.

Many Jewish people are unaware the tests are available, Dr. Schneider said. And insurance plans will not always cover them prior to pregnancy.

Barbara and Jay Rogal, at Monday's genetic screening, have a daughter, Jeanne, who has Gaucher disease, one of the diseases being screened for. But earlier testing is advisable, she said, noting that parents have more and better options if they know ahead of time that they are carriers. Though they minimize risk, the tests are no guarantee that parents will not pass on a genetic trait that leads to a disease in their children. And "there are a lot of concerns that individuals' genetic information could be used against them," said Susannah Baruch, director of reproductive genetics for the Genetics and Public Policy Center at Johns Hopkins University.

Group insurance plans cannot require people to take the tests or reveal genetic information before getting health insurance, she said, but similar protections do not exist for people seeking coverage through individual policies.

Screening for sickle cell disease in the 1970s resulted in many reports of discrimination, primarily through the mistaken belief that carriers themselves had the disease, Ms. Baruch said. She emphasized that carriers of genetic diseases are often healthy and that screening tests can provide them with valuable information.

The college years are a particularly good time for young Jewish people to find out if they are carriers, Dr. Schneider said, noting that most people in that age group are neither engaged nor married.

Dr. David Finegold, a genetics researcher at Children's Hospital and a professor at the University of Pittsburgh School of Medicine, called Monday's event "a fabulous opportunity for young people." But he noted that the issues posed by genetic testing are complex and that genetic counseling is often essential.

At Monday's screening, students met with counselors prior to having their blood drawn.

Ms. Rosen said previous testing indicated that she is a carrier for cystic fibrosis. She said that information would not affect her choice of a mate. But if her spouse is a carrier of the disease, she said she would consider adoption or other alternatives for having children.

Among Ashkenazi Jews, the carrier rate varies for the nine conditions. The rate for the type 1 form of Gaucher disease is about 1 in 14.

With each pregnancy, partners who carry the same genetic disease have a 25 percent chance of having a child with the health problem and a 50 percent chance that a child will be a carrier.

Among orthodox Jews, testing has been used by matchmakers to keep carriers of the same disease from marrying, Dr. Schneider said.

But couples who carry the same disease have other options. Besides adoption, women can utilize a type of in vitro fertilization that allows the screening out of unhealthy embryos, Dr. Schneider said. They also could turn to egg or sperm donors who are not carriers.

Women who are already pregnant can be tested to determine if their child will have an inherited disease. Terminating the pregnancy could be considered if the test is positive, she said.

For Jeanne Rogal, growing up with Gaucher disease meant dealing with problems other children didn't have.

She bruised easily and had nosebleeds that went on and on. Her enlarged spleen caused her abdomen to swell, and getting through the school day left her exhausted.

She had her spleen removed when she was about 15, and she also had hip problems.

"I never had much of a social life," she recalled. "I never had the energy to do any of the extras."

But replacement of her left hip a few years later gave her more mobility. And drug therapy became available to treat an enzyme deficiency that is a hallmark of the disease.

The treatment gave her the confidence and physical ability to become a mother through artificial insemination.

But she chose a donor who was not Jewish or from Eastern Europe "just to lower the percentages."

While private insurance has paid much of the cost of her treatment, Ms. Rogal has also has turned in the past to Medicaid and to a fund that raised thousands of dollars in donations for her care.

Her parents now are working to make genetic testing more easily available in the Pittsburgh area, an effort she wholeheartedly supports.

"Any time you're considering starting a family, the more you know, the better off you are."

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