Genetic Testing in Israel Necessitates Ethical and Cultural Considerations

In the summer of 2016, four classmates and I participated in Georgetown University’s Genetic Health Internship located in Tel Aviv, Israel. Along with taking Genetics and Epidemiology courses and participating in different areas of preclinical research (I investigated AML), we also got a firsthand look into the ethical and cultural approaches to genetic testing within Jewish and Muslim communities. On week four, we journeyed to Be’er Sheva where we had the opportunity to see and learn about the Al-Sayyid Bedouins, one of Israel’s most marginalized minority groups. Prof. Aviad Raz— a medical sociologist at Ben-Gurion University who has conducted extensive research about this community— gave us a tour of the village and introduced us to the many challenges the country faces in genomic medicine as well as their numerous medical breakthroughs.

 

For nearly 200 years, congenital hearing loss has been appearing at elevated rates within the Al-Sayyid community. A 2011 estimate found that out of approximately 4,500 individuals, about 130 are deaf. The recessive “deaf gene,” or mutation in the DFNB1 locus, has spread very rapidly among the Al-Sayyid as a consequence of the founder effect as well as the custom of arranged consanguineous marriages— particularly first cousin marriages— which is a common practice among the Bedouins due to their social isolation. In fact, hereditary deafness is so prevalent that every family has one or two deaf children, and even those individuals who can hear are able to communicate in sign language. Two different forms of sign have emerged in the Al-Sayyid community through the generations, Al-Sayyid Bedouin Sign Language (ABSL) and Israeli Sign Language (ISL). Unfortunately, this has made communication almost impossible between the elderly and young ones.

 

As the Al-Sayyid community has been experiencing high rates of deafness for hundreds of years, they generally do not view deafness as a disability— rather, another way of life. Yet, with the implementation of state services such as deaf education and genetic counseling, deaf people are now more stigmatized. Consequently, more couples are willing to undergo screening to reproduce healthy children who will have access to superior education and career opportunities as compared to their deaf counterparts.

 

Following years of research, Prof. Raz and his team developed a unique genetic counseling program for the Al-Sayyid to limit the perpetuation of the identified deaf mutation. Prof. Raz modeled this program on Dor Yeshorim, a premarital genetic screening company that matches Orthodox Jews based on their carrier status for common recessive genetic diseases among the Ashkenazi population. Prof. Raz emphasized the confidentiality and privacy of Dor Yeshorim as well as of his own premarital matching program, since carrier status comes with the burden of stigma within the Orthodox and Al-Sayyid communities.

 

With this program, Prof. Raz’s goal was to accomplish something he called “healthy consanguinity.” In other words, by conducting premarital carrier testing between couples, no drastic transformations were made to Bedouin culture, only adaptations to Bedouin customs and beliefs. Put more simply, if Prof. Raz’s program called for the elimination of consanguineous marriages, a tradition that has influenced Bedouin society for hundreds of years, it would have failed miserably. However, the research of Prof. Raz and his team has been so successful that they have saved a whole generation from deafness.

 

The trip to Be’er Sheva was incredibly enlightening for us all. It gave us a lot to think about regarding the controversial interweaving of culture, ethics, and medicine–specifically, the unique challenges Israeli genetic counselors often face when working with Bedouin and Jewish populations.

 

Genetic Counseling Israel

Our visit to Al-Sayyid with Prof. Aviad Raz (back center)

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Elizabeth Arruda

Is a contributor to The Almost Doctor’s Channel.