Ashkenazi Jewish genetic testing: utilisation of services, genetic knowledge and perceptions of stigma

Stoler, Kara
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Genetic carrier testing programmes originated in different ethnic groups to establish whether an individual or his/her partner carries an inherited recessive genetic mutation that could cause a serious genetic condition in a couple’s offspring if both are carriers. Molecular genetic analysis has shown that despite migration and physical separation, Jewish individuals have retained their religious, social and genetic identity over many years through a common religion, dialect, customs and marriage within the community. Therefore, a number of conditions have a higher incidence in the Jewish population due to the founder effect. There are a number of serious life-threatening conditions prevalent in the Ashkenazi Jewish population that display an autosomal recessive inheritance pattern. These conditions are deemed worthy of genetic carrier testing to identify couples who are at risk and assist them in making appropriate reproductive choices. This research study focused on the Ashkenazi Jewish genetic testing programmes available to the Jewish community in Johannesburg, South Africa (SA) and it explored the uptake of genetic carrier testing. It also aimed to assess genetic knowledge related to carrier risks and the autosomal recessive inheritance pattern, and to evaluate the personal or social perception of stigma associated with being a carrier of an Ashkenazi Jewish condition. The study sample included Ashkenazi Jewish men and women in Johannesburg, SA between the ages of 18 and 40 years. The study was advertised through several Jewish community resources. Data was collected through an online structured questionnaire over a one month period. All information was cleaned and coded in an Excel spreadsheet and then analysed. There were 298 individuals who participated in this study with 32.6% (97/298) male and 67.4% (201/298) female. From the total number of participants in the study, 44% (130/298) had genetic carrier testing. The participants who had testing chose to be tested when they were either single, dating or engaged. The timing would therefore have implications for participants as individuals would be aware of different reproductive options available at different stages. This study found that knowledge with regard to understanding genetics of the autosomal recessive pattern of inheritance for the common Ashkenazi Jewish genetic conditions was poor. Participants did not fully understand the implications of being a carrier of a genetic condition and underestimated the frequency of the genetic condition. Finally, no stigma for being a carrier of a genetic condition was found in the sample overall or when assessed for personal or social stigma. This finding indicated that there may be less stigma in the community in Johannesburg, South Africa. This study highlights the need for genetic services to be promoted further in the Ashkenazi Jewish community through educational programmes so that individuals are encouraged by their community and health care professionals to test for the 9 common Ashkenazi Jewish conditions. An increase in genetic carrier testing would allow more individuals to make informed reproductive decisions.