Tay-Sachs disease is a genetic disease that has been at the forefront of scientific research on inheritance patterns, as well as for those exploring the possibility of disease prevention.
In particular, some Jewish communities have been largely involved in supporting the development of screening programs to help with mate selection and ultimately prevent disease occurrence. Stemming from this targeted research, several similar mate selection programs have been introduced to avoid the inheritance of genetic diseases. However, there has been some concern about the effect of limiting research efforts to specific ethnicities, as well as avoid the stigmatization of these groups with a susceptibility to the conditions.
Carrier testing for Tay-Sachs in Jewish population
The introduction of genetic tests that were sensitive to the mutations of carriers for Tay-Sachs in 1971 was met with enthusiasm, especially from certain ethnic groups, such as those living in Israel. Ashkenazi Jews, for example, got involved with the genetic screening tests early on 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 both free genetic screening for the entire Israeli population that are planning to start a family, as well as 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 now. The success of these programs have even led Jews living in other countries to also tend to opt for the screening test as compared to other ethnic groups. Israel is now considering the prospect of expanding screening tests to also include other genetic disorders.
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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. Since some of the early studies appeared to suggest that the disease was more common among Ashkenazi Jews, which has since been shown to be false, there has often been a stigmatization of these populations. Additionally, there is uncertain relevance of the results for other populations, since only a specific sample population was often used.
Association with other genetic diseases
As an enzyme assay test was developed for Tay-Sachs disease before other autosomal recessive genetic disorders, it was used as a model for developing the testing assays used to detect other genetic diseases.
There is some controversy about the carriers of Tay-Sach's 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.