Gaucher’s Disease: Why We Test for What We Test for
For 35 years, the international Jewish community has relied on Dor Yeshorim for healthy generations, and for good reason. As the leader in pre-marital testing, Dor Yeshorim has the genetic expertise and statistical data that enable us to make highly informed decisions. Our expertise has led to globally recognized groundbreaking achievements, including the eradication of Tay-sachs in Jewish communities.
We are ever cognizant of our responsibility to utilize the most recent data and research available in formulating our testing panels. When you test with Dor Yeshorim, you know that the results you receive are definitive and reliable. You can either move forward or move on with absolute certainty.
Though other organizations may like you to believe differently, testing for every possible disease is not in your best interest and may do more harm than good. Many recessive genetic mutations do not have reliable testing methods, and it is often unclear whether those mutations actually even cause those diseases. Contrary to other organizations’ policies, every disease Dor Yeshorim tests for is subjected to meticulous, high-tech research to ensure it warrants placement on our testing panels.
Dor Yeshorim shares in the anguish of parents whose children suffer from rare genetic diseases, such as a severe form of Gaucher’s. We provide guidance, support, and genetic testing upon request to these families.
Dor Yeshorim’s testing policies for GAUCHER’S DISEASE (GD) are based on numerous clinical studies conducted by top genomic experts. These studies find that Gaucher is rarely found in its severe form; rather, it is typically expressed in a mild or symptomless way and is almost always treatable.
The following are just two of those findings:
“The clinical utility of offering GD carrier screening is also debatable as the most common mutation in the Ashkenazi Jewish population, N370S, usually leads to a mild or symptomless phenotype and those who are affected can be effectively treated with enzyme replacement therapy.”
— National Institute of Health’s Genet Med. Author manuscript; available in PMC 2012 December 26.
“Although type 1GD is common and test sensitivity is high, carrier screening is controversial because the disease is usually not severe or untreatable, and the test performed does not fully predict disease severity. The World Health Organization criteria for carrier screening include elements such as that the disease be a significant health problem and the natural history of the disease be adequately understood.”
— JAMA, September 19, 2007 Vol 298, No. 11.