A scientist who has devoted his life to Tay Sachs prevention after losing two daughters to the genetic disease has expressed anger at NHS plans to scrap free tests for the Jewish community.
The UK National Screening Committee (NSC) plans to charge up to GBP250 for a test for the fatal illness, which leaves babies unable to breathe independently and effectively living in a vegetative state.
A baby with Tay Sachs appears normal at birth, but development starts to slow down at about six months. Gradually the child becomes blind, deaf and paralysed, usually dying by the age of four.
Dr Philip Koch, who lost two daughters to Tay Sachs in the 1960s, has attacked the proposal. He said: “What makes me angry is that we have nearly rooted the disease out, but diseases aren’t interested in ‘nearly’. Over time we have screened so many people that today, youngsters often know they are clear of being a carrier of the gene that causes Tay Sachs as their parents aren’t carriers. As far as I know, there has only been one Tay Sachs baby in the Jewish community in London in the last five years, but that won’t be the case if funding for the test is scrapped.”
However, in a consultation, which closes in a few weeks time, the NSC states: “It is estimated that only one child per year is likely to be born with Tay Sachs disease out of the estimated 2,772 babies born of Ashkenazi Jewish origin in England. The UK Jewish population is relatively small compared to the total UK population. This means that although the carrier rate in this group is 10 times that of the non-Jewish population, there will still always be more non-Jewish children than Jewish children identified with the disease annually in the United Kingdom. A total of two or three babies are expected to be born each year from the non-Jewish population who would not have access to screening.”
Dr Koch also claims that the costing of the test by the NHS is “completely wrong”. He said: “They originally quoted GBP450 and now they have come up with GBP250. If they do several a day, I don’t see how it would be more than about GBP35 per test. Their reasons for wanting to scrap it are because they don’t want to appear to be favouring a particular population group. If you see a child with Tay Sachs, and witness firsthand the anguish it causes parents, you would know why eliminating this disease is so important.”
When both parents have the defective gene, there is a 25 percent chance their child will develop the illness. While the disease is most prevalent in the Ashkenazi community at a rate of one in 27 it can also be carried by other groups, but at one in every 250.
Dr Koch developed the enzyme test to detect unaffected carriers of the condition in 1967. He offered it initially as a private clinician until 20 years ago he joined forces with Jewish Care to campaign for wider testing among Ashkenazi Jews.
While the cost of taking 200 samples of blood every year and providing information on the disease lies with the Jewish community, Guy’s Hospital is currently running tests through NHS funding.
Katrina Sarig, executive director of Jewish Genetic Disorders UK, said Jewish organisations had responded to the consultation on the proposals by arguing the programme should not only be maintained but expanded.
She said: “There are other genetic disorders that disproportionately affect Jews and we can now test for multiple disorders at the same time. But instead of seizing the opportunity there appears to be cutbacks on the way.”
A final decision is due in March.Learn more »