MONTREAL – Screening for Ashkenazi Jewish hereditary diseases is not at the level public health officials and concerned community members believe it should be in Montreal.
They are warning that these genetic disorders, though rare, have not disappeared, are still incurable, and when they occur, are devastating to families.
That was the message at a public event June 8, sponsored by Federation CJA’s Young Adult Division with the Montreal Jewish Genetic Disorders Fund (MJGDF), a volunteer organization that advocates for screening and offers information on testing options in Montreal and the choices for couples who are carriers.
The good news is that testing can be done more quickly and reliably than ever before, and in the case of three of the most frequent diseases, Tay-Sachs, Canavan and familial dysautonomia (FD), the tests are covered by medicare.
There is also a lot more counselling and support available, notably through the McGill University Health Centre (MUHC) and MJGDF.
Since its founding 10 years ago, the MJGDF has gradually raised awareness of the importance of Ashkenazi Jews being tested before they marry and start a family, said chair Julie Kristof.
She knows what having an affected child means. Her now nine-year-old daughter has FD, a chronic, life-threatening neurological disease. Neither she nor her husband, a medical student at the time she was born, knew they were carriers. They already had a healthy son.
While they cherish their daughter, the disease’s multiple symptoms are unpleasant and limiting. Miriam cannot attend regular school, and her care has permanently altered family life. “I apologize to Miriam every single day for not getting tested. If only I had known,” her mother said.
Dr. John Mitchell, director of pediatric endocrinology at the Montreal Children’s Hospital, who has been involved with screening programs in at-risk communities for more than 20 years, noted that the number of people being tested dropped after a long-running screening program for Tay-Sachs in Montreal high schools ended.
Started in the early 1970s, that voluntary program ended in the early 2000s, mainly for budgetary reasons, but also because testing for other disorders had become more effective and there was debate over what diseases should be included and whether multiple tests would confuse the public.
In 2011, Mitchell conducted a study that found only about 100 Ashkenazim in Montreal were being tested annually in the public system out of a total population of 68,500. Using that census figure, the number should have been about 600 (the estimated number of 18-year-olds).
Today, it is estimated that 250 are being screened each year – an improvement but well below the target.
By contrast, in the same period in Toronto, among 143,085 Ashkenazim, about 1,600 people were being tested annually – close to the target of 1,800, Mitchell said.
Moreover, the Ontario public health care system covers screening for nine – not three – disorders. Mitchell attributes the high participation to greater community advocacy, by such groups as Jacob’s Ladder and others, and more “buy-in” among obstetricians to counsel patients on the issue.
But the difference in Montreal is also likely due to long waits for appointments in the public system – up to a year.
That time is being cut through a new online tool offered by the MUHC, in cooperation with MJGDF. It assesses a person’s risk before they seek testing. Those found to be at risk will be sent a requisition form for a test, usually a simple blood or saliva sample. As those who do not need to be seen are screened out, wait times are being reduced.
Full details can be found here.
It will take longer to get an appointment for genetic counselling, perhaps three months, at the MUHC.
According to information distributed at the event, one in five people of Ashkenazi descent (minimally, one grandparent) is a carrier of a recessive genetic mutation.
If both parents are carriers of a mutation of the same disorder, in each pregnancy there is a 25 per cent chance of having a child who is affected by a genetic mutation, a 50 per cent of having a child who is a carrier, and a 25 per cent chance of having a child who is neither affected nor a carrier.
Even those married to a Sephardi Jew or non-Jew are urged to get tested.
Genetic testing is increasingly offered by private firms, but the cost is high, usually at least $800, and the panellists had doubts about the wisdom of testing for 100 disorders or more, as some firms offer.
Among haredi communities in Montreal, New York-based Dor Yeshorim routinely tests teens here for nine diseases at a cost of about $200 (US), Kristof noted. The results are not made known to those tested, she said. Instead, each is assigned a number and if a proposed couple are incompatible, they are notified.