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Tay-Sachs disease is a genetic disease that has been at the forefront of scientific research on inheritance patterns and exploring the possibility of the prevention. In particular, some Jewish communities have been largely involved in many of these studies with the introduction of screening programs to help with mate selection in the prevention of the disease.
Stemming from this targeted research, preventative measures have been introduced in these areas with the use of mate selection programs to avoid the inheritance of genetic diseases. However, there has been some concern about the effect of limiting the research to particular ethnicities and stigmatization of these groups with a susceptibility to the conditions.
The introduction of genetic tests that were sensitive to the genetic mutations of carriers for Tay-Sachs in 1971 was met with enthusiasm from particular ethnic groups, especially in Israel. Ashkenazi Jews got involved with the genetic screening tests from the initial stages to enable safer mate selection and reduce the risk of having a child with Tay-Sachs disease.
The initial success of this program led to the country of Israel offering free genetic screening for the entire Israeli population that are planning to start a family and counseling for couples that require advice based on test results. Millions of people from this ethnic group have been screened for the disease from 1971 until the present, and Jews living in other countries also tend to opt for the screening test more than other populations. The country is now considering the prospect of expanding screening tests to also include other genetic disorders.
As a result of the increased number of screening tests conducted in Israel, much of the scientific research used this population as a sample. The Ashkenazi Jews are a specific ethnicity group that embraced genetic screening for Tay-Sachs disease from the early stages of the carrier testing becoming available.
However, there is some concern about the appropriateness of limiting the genetic testing to certain ethnicities. Some of the studies appeared to suggest that the disease was more common among Ashkenazi Jews, which has since been shown to be false, leading to the stigmatization of these populations. Additionally, there is uncertain relevance of the results for other populations, when only a specific sample population is used.
As an enzyme assay test was developed for Tay-Sachs disease before other autosomal recessive genetic disorders, it was hence used as a model for other similar diseases.
There is some controversy about the carriers of the disease, known as heterozygotes, and whether they have a selective advantage in comparison to other individuals. The extensive studies among Jewish population helped to establish the prevalence of four distinct lysosomal storage disorders in individuals of Ashkenazi Jewish origin. This has been put forward as a suggestion that selective advantage for carriers exists.