The Cedars-Sinai Medical Center’s Medical Genetics Institute and Department of Pathology and Laboratory Medicine will be the first to offer genetic screenings for four common inherited disorders within the Persian Jewish population.
Screening tests resulting from advances in human genetics can detect the presence of genetic mutations connected to the four diseases through a simple saliva sample. The first 1,000 tests will be administered free of charge as part of a pilot program.
“Everyone of Persian Jewish descent should consider being tested,” said David L. Rimoin, MD, PhD, director of the Cedars-Sinai Medical Genetics Institute. “There is nothing to be fearful of in testing positive for being a carrier. The only negative is in not knowing.”
With genetic screening and diagnosis through the confidential tests, the four conditions are treatable, avoidable or preventable in most cases. The screening tests, which will be offered first in synagogues and other community centers, will determine if an individual is a carrier for anesthesia sensitivity, a salt-losing disorder, a multiple hormone deficiency or hereditary muscle disorder.
Every ethnic group has its own set of genetic diseases. Rimoin says this program serving the tens of thousands of Persian Jews in the Southern California region could serve as a model for similar programs to serve other ethnic groups.
The four conditions being examined are:
§ Pseudocholinesterase deficiency (anesthesia sensitivity): One in 10 Persian Jews are carriers for anesthesia sensitivity. In one in 100 couples, both partners will be carriers, which means their children would have a 25 percent chance of having the disorder. When the condition is known to be present, complications can be avoided by selecting appropriate anesthetic agents.
§ Congenital hypoaldosteronism (salt-losing disorder): One in 30 Persian Jews are carriers, and one in 900 Persian Jewish couples are at risk of having a child with this condition, a salt-losing disorder. The more severe forms can result in critical dehydration and shock in newborns. In less severe cases, children with the condition have poor weight gain, short stature, blood pressure irregularity, weakness, dizziness and salt cravings. If the risk is identified before birth, the fetus or newborn can be tested and treated early. Normal life span, growth, and development are expected for affected individuals treated early with a simple, inexpensive on-going therapy.
§ Polyglandular deficiency (multiple hormone deficiency): One in 50 Persian Jews are carriers for this multiple hormone deficiency. The condition can be characterized by many symptoms, depending upon which glands are affected. While the symptoms may include skin infections, fatigue, muscle weakness, loss of appetite, hair loss and infertility, the disorder is easily treated with hormone replacement therapy.
§ Hereditary inclusion body myopathy (hereditary muscle disorder/HIBM): This hereditary muscle disorder, also known as HIBM, is characterized by progressive muscle weakness of the arms and legs. One in 20 Persian Jews are carriers, and one in 400 couples are at-risk of having a child with this condition. The symptoms usually appear in the 20s and 30s with difficulty walking. Most individuals with HIBM become severely debilitated and lose their ability to walk about a decade after onset. Genetic counseling and prenatal diagnosis in early pregnancy are available to at-risk couples.
The program is a joint effort of the Cedars-Sinai’s Department of Pathology and Medical Genetics Institute. The program is supported in part through a three-year grant from the Jewish Community Foundation of Los Angeles.
“The Genetics Screening Panel for the Persian Jewish Community is part of the Department of Pathology and Laboratory Medicine’s strategic focus to develop innovative molecular tests in the era of personalized medicine which utilize advances in molecular medicine for the benefit of the community,” said Mahul B. Amin, MD, chairman of the Department of Pathology and Laboratory Medicine.
The program includes measures to ensure the confidentiality of participants. Each participant will be assigned a bar code number, which will be the only identification information available to the laboratory professionals processing the tests. The program’s study coordinator will match the bar code numbers with participant identities when results are available. The study coordinator will mail the results directly to the participant, or in the case of a minor, directly to a parent or guardian. Participants will be offered the opportunity to discuss the test results with a genetic counselor.
Rimoin said the program grew in part out of efforts to fight Tay-Sachs disease. The Cedars-Sinai Medical Genetics Institute has enlisted the expertise of Michael Kaback, MD, who more than 30 years ago pioneered the mass screening of Ashkenazi Jews for Tay-Sachs disease. Kaback is a professor of Pediatrics and Reproductive Medicine at the UC-San Diego School of Medicine and former president of the American Society of Human Genetics. Kenneth Bernstein MD, director of Experimental Pathology and Jean Lopategui, MD, director of Molecular Pathology at Cedars-Sinai, have also been instrumental in the program’s development.
Rimoin said he hopes the Persian Jewish genetic testing program will next be brought to New York and Israel. In the future, similar programs may be developed to serve other ethnic groups.
"We were able to take the concept of the genetic screening program developed for Tay-Sachs disease and apply it to screening for these four disorders, which are common in the Persian Jewish population," Rimoin said. "Every ethnic group has its own set of genetic diseases. We’re starting with the Persian Jewish community in Los Angeles, but this is just the beginning."
To arrange for a screening to be done at your location, please contact Catherine Quindipan at (310) 423-9547.
Source: Cedars-Sinai Medical Center
