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May 13, 2005/Iyar 4 5765, Volume 57, No. 37
132 adults tested at genetic screening
VICKI CABOT
Contributing Editor
"Pretty amazing."
That's how organizers described the recent genetic testing program sponsored by the Greater Phoenix Jewish Genetic Diseases Project.
More than 200 Valley residents attended the project's educational program at the Ina Levine Jewish Community Campus, and 132 of them took advantage of the opportunity to be tested for a panel of Jewish genetic diseases.
Still, say Sherman and Andi Minkoff, who spearheaded the effort, there's lots more work to do.
"We only got 132," said Andi Minkoff. "There are an awful lot of others out there who have not been tested and one day may want to have children."
Sherman Minkoff estimates that based on the 2002 Jewish Population Study, there may be some 30,000-35,000 Jews living in the Valley of the Sun between the ages of 18-45, the cohort the project targeted.
The April 3 screening tested for four of the diseases that occur more frequently in families of Eastern European descent: Tay-Sachs, Canavan's disease, familial dysautonomia and cystic fibrosis. Testing for the other five Jewish genetic diseases was available at additional cost.
Results indicated that 16 percent of those screened tested positive for one of the diseases. Dr. Kirk Aleck, head of clinical genetics at St. Joseph's Hospital and a member of the genetics disease project, reports that 21 individuals tested positive for one of the diseases. Seven out of 132 tested positive for cystic fibrosis, six out of 132 tested positive for Canavan's disease, four out of 132 tested positive for Tay-Sachs and four out of 132 tested positive for familial dysautonomia. One person tested positive for Gaucher's disease, out of 42 individuals tested for that illness.
Those who received negative results - they are not carriers for the genetic diseases tested - were notified by letter from the project and received the actual laboratory report. Those who tested positive for any of the diseases were contacted personally.
"We called on the phone and told them they had received a positive result and talked to them about the implications for reproduction," Aleck explains. "And if they had a spouse or were planning reproduction, we asked that their spouse be carrier tested."
If both partners are carriers, there is a one in four chance in each pregnancy that a child will be born with the disease.
Aleck also suggested that individuals pursue additional genetic counseling should they feel the need to discuss reproductive options. These include choosing not to have children, choosing to fertilize eggs in vitro and then selecting those embryos that are not affected, becoming pregnant and then testing the embryo in either the first or second trimester and considering terminating a pregnancy if the disease is detected, or choosing to do nothing.
One 30-year-old woman, married with no children, sought the screening because of her family history of genetic disease. She is a physical therapist who works with children with disabilities.
"I wanted to do as much as I could to prevent (having a child with a genetic disease) and to be able to make informed decisions," she said.
Cost for the four-disease panel was $36, a fraction of the fee for private testing, which, may run $1,000 or more. Funding for the project was secured from a variety of communal resources including the Jewish Community Foundation, St. Joseph's Hospital and individual donors. Phlebotomists, who drew the blood for screening, were provided by St. Joseph's at no charge.
Organizers lauded the outpouring of communal support.
"We are so fortunate to be able to bring this type of program to the Valley," said Cathy Rood of Jewish Family & Children's Service. "We were thrilled with how the day went and pleased with the public response."
Becca Hornstein, executive director of the Council for Jews with Special Needs, added, "It was tremendously rewarding to see so many people in the community respond so positively to our effort to both educate about genetic diseases and offer the screening."
The last such effort here was in the mid-1970s, led by Ron and Phyllis Anatole, who lost a daughter to Tay-Sachs in 1960.
Organizers agree that additional screenings are needed.
"We'll go over everything we've done and strategize as to where to do the next screening," said Aleck.
Possible sites include area synagogues and the Arizona State University campus.
Congregational venues would allow the congregations to take ownership of the program and might result in increased turnout, said Aleck. ASU is a likely location because of the preponderance of students of childbearing age.
Funding remains a priority.
"We are hopeful to secure an endowment," said Andi Minkoff. "It is the only effective way to do it."
Rabbi Lester Frazin and his wife, Sherine, contacted Jewish News after reading about the testing project. In 1960, the Frazins lost a son to Tay-Sachs at the age of 4, and opted to terminate a later pregnancy when doctors determined that the child would also have the devastating disease. They have a living natural son and two adopted children.
"It's a simple blood test," said Frazin, who initiated efforts for community screenings in Sacramento, where he served as a rabbi for 25 years. "They can determine right away (if you are a carrier)."
Frazin officiates at weddings and does premarital counseling for young couples in the Valley.
He said he tells them his story and insists they seek screening if they are from an Ashkenazic background.
"You've got to be tested if you want to have children," he said.
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