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To consider the pilot effort, we needed first to be certain whether we could identify the five mutations associated with these disorders, in as simple, inexpensive, and totally accurate a fashion as possible.

Also, the methods had to be capable of high throughput application as sizeable numbers of samples would be expected, with rapid turnover needed to report results in a reasonable time frame.

These were selected primarily because of their reported relatively high frequencies in the Persian Jews migrating to Israel, the fact that three of the four disorders were associated with a single point mutation (and the fourth, with two mutant alleles), and lastly, and most critically, because these conditions were individually either entirely avoidable, treatable or, like TSD, preventable through reproductive counseling options.

The four conditions selected were Table 1 Persian Jewish genetic screening panel Each of these conditions is of sufficient morbidity and frequency to warrant efforts either to identify affected individuals before symptoms are evident (where effective treatment is available), or, where no treatment is at hand, to be able to identify individuals or couples at high risk for disease in their offspring and to provide them with counseling and assistance with their reproductive decisions.

Three sessions were held at the two synagogues where the majority of Persian Jews in Los Angeles worship.One was held at a community center in the San Fernando Valley, a part of Los Angeles County, and two were held as evening sessions at Cedars-Sinai Medical Center. For each session, to control numbers and to be able to appropriately staff the testing, individuals made phone reservations and were assigned appointments at 1-hour shifts through the 3-hour testing session.Genetic counselors volunteered at each testing and provided information, answered questions, and assured required IRB completion of all informed consent and HIPAA documents.Since inception in 1970, TSD “prevention” programs have been developed worldwide (North and South America, Israel, South Africa, Europe, and Australia).More than 1.5 million individuals have been tested voluntarily and more than 50,000 heterozygotes identified.

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Over 1500 couples have been found to be at risk, and 700 pregnancies in which the fetus was affected with TSD electively terminated (Kaback, unpublished data).

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