New MUHC study to cut wait times in genetic testing for Ashkenazi Jews in Montreal

Patient analysis through online pre-test genetic learning tool means faster response times for genetic testing at Montreal General Hospital

With nine per cent of individuals of Ashkenazi Jewish descent at risk of being carriers of some genetic disorders, the McGill University Health Centre (MUHC) is sponsoring a study to test a new website’s effectiveness in offering free genetic education to Ashkenazi Jews about their increased risk of having children with fatal and life-threatening conditions.

“The best time to be screened is prior to starting a family, but provincial wait times to see a genetic counsellor can be significant," explains Guillaume Sillon, genetic counsellor at the MUHC. "This new educative website will allow us to test the effectiveness of online pre-test genetic learning within the Jewish community, helping individuals properly identify their risk and ultimately reduce the wait for genetic testing.” After completing the online assessment, those at risk will be sent an electronic requisition to undergo a blood test for genetic testing at the Montreal General Hospital. 
Individuals of Ashkenazi Jewish descent can be screened for three genetic conditions: Tay-Sachs disease, Canavan disease, and familial dysautonomia. Most children with these genetic conditions are born to parents who did not know that they were carriers and had no family history. If both parents are carriers of a mutation in the same gene, there is a 25% chance of having an affected child, and a 75% chance of having an unaffected child who can also be a carrier of the gene. 
By screening at an early stage, prospective parents will have all of the knowledge necessary to discuss their options. “It is vital to know your risk factor when you are considering pregnancy so that you can weigh the possibilities,” says Julie Kristof, Chair of The Montreal Jewish Hereditary Disorder Fund (TestJGD.com) and a mother of two, whose daughter Miriam was diagnosed with familial dysautonomia. “All people of Ashkenazi descent should be tested, even if your partner is not Ashkenazi. Otherwise, it is our children who may suffer. This condition has fundamentally altered every aspect of our lives, both professionally and personally. I hope that this project can help save other families some of that grief.”
There are many reproductive alternatives for carrier couples depending on the beliefs and values of the people involved. For more information or to sign up for the study and carrier testing please contact Guillaume Sillon, MSc, genetic counsellor at the McGill University Health Centre. (514-934-1934 ext. 43707 or guillaume [dot] sillon [at] muhc [dot] mcgill [dot] ca).

With nine per cent of individuals of Ashkenazi Jewish descent at risk of being carriers of some genetic disorders, the McGill University Health Centre (MUHC) is sponsoring a study to test a new website’s effectiveness in offering free genetic education to Ashkenazi Jews about their increased risk of having children with fatal and life-threatening conditions.

“The best time to be screened is prior to starting a family, but provincial wait times to see a genetic counsellor can be significant," explains Guillaume Sillon, genetic counsellor at the MUHC. "This new educative website will allow us to test the effectiveness of online pre-test genetic learning within the Jewish community, helping individuals properly identify their risk and ultimately reduce the wait for genetic testing.” After completing the online assessment, those at risk will be sent an electronic requisition to undergo a blood test for genetic testing at the Montreal General Hospital. 

Individuals of Ashkenazi Jewish descent can be screened for three genetic conditions: Tay-Sachs disease, Canavan disease, and familial dysautonomia. Most children with these genetic conditions are born to parents who did not know that they were carriers and had no family history. If both parents are carriers of a mutation in the same gene, there is a 25% chance of having an affected child, and a 75% chance of having an unaffected child who can also be a carrier of the gene. 

By screening at an early stage, prospective parents will have all of the knowledge necessary to discuss their options. “It is vital to know your risk factor when you are considering pregnancy so that you can weigh the possibilities,” says Julie Kristof, Chair of The Montreal Jewish Hereditary Disorder Fund (TestJGD.com) and a mother of two, whose daughter Miriam was diagnosed with familial dysautonomia. “All people of Ashkenazi descent should be tested, even if your partner is not Ashkenazi. Otherwise, it is our children who may suffer. This condition has fundamentally altered every aspect of our lives, both professionally and personally. I hope that this project can help save other families some of that grief.”

There are many reproductive alternatives for carrier couples depending on the beliefs and values of the people involved. For more information or to sign up for the study and carrier testing please contact Guillaume Sillon, MSc, genetic counsellor at the McGill University Health Centre. (514-934-1934 ext. 43707 or guillaume [dot] sillon [at] muhc [dot] mcgill [dot] ca).

To find out more about testJGD.com, contact 

The Montreal Jewish Hereditary Disorder Fund
Julie Kristof  at 514-260-4998 or 514-483-5500
e: info [at] TestJGD [dot] com 
w: www.testjgd.com