Ashkenazi Jewish genetic testing: utilisation of services, genetic knowledge and perceptions of stigma
Date
2014-03-28
Authors
Stoler, Kara
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Abstract
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.