Views on disability and prenatal testing among families with Down syndrome and disability activists: A comparative analysis of interviews from Germany and Israel.

The prenatal genetic testing arena has witnessed great changes over the past decades and has been the focus of extensive discussion of its ethical, legal, and social implications. Germany and Israel were previously known for strongly contrasting regulations and attitudes of both professionals and laypeople towards genetic testing. Based on qualitative analysis of 37 semi-structured interviews, this study compares German and Israeli family members of individuals with Down syndrome and disability activists, thereby examining the interplay between lived experience and cultural scripts and their impact on the formation of personal views toward disability and prenatal testing. We have found that the differences between Germany and Israel remain, despite the emergence of new technologies, and that family members and disability activists reflect the norms of their socio-cultural environments, thereby emphasising the role society plays in shaping the views of those with direct experience of disability.

The mask of autism: Social camouflaging and impression management as coping/normalization from the perspectives of autistic adults.

Autism entails impression management, including social camouflaging, under conditions of conflict and stigma, with reduced ability to perform such social interaction as well as an increased toll that accompanies it. To examine the meanings of impression management and social camouflaging from the point-of-view of autistic people, we conducted a participatory study that included semi-structured interviews with 24 Israeli autistic adults in 2017-2018. We present views on the difference between camouflaging and impression management; impression management as a social asset; the ambivalence of camouflaging; the limits of impression management; and autistic forms of social communication that provide an alternative to impression management and camouflaging. These perspectives are discussed as leading from prioritizing social integration to prioritizing autistic empowerment. We further explore how the stigma of autism is turned, through camouflaging, into the mask of autism, offering to deconstruct the neurotypical premises of academically-approved concepts of socialization and impression management. Emancipatory participative research thus provides a unique opportunity not only to sociologically explore the deeper contours of "social disability" but also the "disabilities of sociology", offering directions for the neuro-diversification of sociology, in parallel with the recent thrust of building a "sociology of autism".

Attitudes of Israeli parents of children with Down syndrome toward non-invasive prenatal screening and the scope of prenatal testing.

Due to its early utilization and increasing ability to provide genetic information, non-invasive prenatal screening (NIPS) has reinforced social and bioethical quandaries concerning prenatal genetics. This paper presents exploratory findings based on 20 semi-structured interviews conducted in 2017-2019 with Israeli parents of children with Down syndrome (DS), four of whom also serving as representatives of DS organizations. Their views are presented regarding the pros and cons of NIPS; the social context of decision-making about NIPS; and views on life with DS and termination of pregnancies on that ground. While illustrating the large heterogeneity of views concerning NIPS and prenatal diagnosis (PND) amongst parents of children with DS, our respondents commonly criticized the imbalanced information provided by professionals regarding DS, seen as sending a discriminating message in line with the public ignorance surrounding DS. These views are further discussed in the multi-cultural, ableist and pro-natal context of Israeli society. We conclude by offering practical implications concerning NIPS, parental autonomy, and informed choice.

Coming to terms with the imperfectly normal child: attitudes of Israeli parents of screen-positive infants regarding subsequent prenatal diagnosis.

This study examines the interface between newborn screening and prenatal diagnosis from the point-of-view of parents of screen-positive children. Many conditions covered by newborn screening represent classic (autosomal recessive) Mendelian disorders. Parents of screen-positive infants therefore often come to learn that they are carriers of the disease, and face a decision whether to test for it in future pregnancies. Semi-structured interviews were conducted in 2015-2017 with 34 Israeli parents whose child was screen positive. Three major themes emanated from the parents' attitudes toward prenatal testing for the disease in prospective hypothetical pregnancies: rejection of prenatal testing for the disease associated with the screen positive, and relying instead on newborn screening to reveal if a future baby is also sick (18/34, 53%); support of prenatal testing to get more information (7/34, 21%) and support of prenatal testing in order to abort in case of a test positive (9/34, 26%). We discuss the importance of newborn screening for reproductive decision-making, highlighting the arguments associated with positive and negative parental views of the possibility of having another child with the same condition associated with the screen-positive of the child that had already been born. The conclusions challenge the common assertion that parents pursue the dream of the "perfect child" through prenatal diagnosis that "naturally" leads to selective abortion. The diversity of views expressed by Israeli parents of screen-positive children highlights the diversity of normative scripts of "genetic responsibility" in the context of parenthood.

"The Most Important Test You'll Ever Take"?: attitudes toward confidential carrier matching and open individual testing among modern-religious Jews in Israel.

This article reports on attitudes of modern-religious Ashkenazi Jewish adults in Israel toward anonymous carrier matching for severe monogenic diseases by Dor Yesharim (the ultra-orthodox organization) and open individual carrier testing (through a medical center), examining how this important choice is being informed, communicated, made, and reflected on. Qualitative analysis of semi-structured interviews conducted with 23 modern-religious Ashkenazi Jews in 2009-2011 revealed social pressure to utilize Dor Yesharim; however, respondents considered its policy of advising against a marriage between partners who are carriers of the same genetic condition inappropriate for 'love marriages' where a couple's commitment may already be made. Confidential carrier testing was a stepping stone to open carrier testing for those advised not to marry. Respondents varied in their views on when open carrier tests should be conducted. Pre-implantation genetic diagnosis was considered religiously preferable to abortion; however most carrier couples opted for pre-natal testing and selective abortion, challenging stereotypes about the attitudes of religious Jews. It is discussed how carrier screening is contextualized and interpreted not just in terms of religious teachings, but in interaction with lay agency, personal experiences and knowledge of reproductive choices. We conclude by discussing the implications for the social analysis of the ethics of carrier screening in religious communities at risk.

When does a fetus become a person? An Israeli viewpoint.

BACKGROUND AND METHODOLOGY: 'Biological' and 'human' life or 'personhood' are not necessarily identical. While the Catholic Church does not separate the two, concluding that human life commences at conception, Judaism endows the fetus with personhood gradually throughout the pregnancy. Gradualism is also reflected in many Western abortion laws that prohibit 'late abortion'. Importantly, the Israeli law does not prohibit abortion at any stage of pregnancy. To examine attitudes regarding the status of the fetus vis-a-vis its stages of development, a questionnaire presenting ten successive stages was distributed to Israeli respondents (n = 281). For each stage participants were asked to grade the fetus as having 'personhood' or as a 'living organism' on a five-point scale. Data were analysed to show frequency distribution. RESULTS: The fetus gains its ascribed personhood gradually. Most of the participants perceived the fetus as a person at the stage in which the woman feels its movements. Additionally, many (especially secular respondents) evaluated the fetus as a living organism at earlier stages, thus making a distinction between the fetus as a living organism and as a person. An international comparison with English-speaking countries revealed a local 'Israeli' tendency to attribute personhood status to the fetus only at a relatively late stage. DISCUSSION AND CONCLUSIONS: The 'Israeli' fetus acquires its status gradually. This finding challenges the dichotomous conceptualisation of the fetus as 'a person' or 'non-person'. The authors conclude by presenting the perceived transformation of the fetus to 'personhood' as being influenced by national and religious factors.

Commentary: a sociologist's view on community genetics.

This commentary illustrates and discusses potential research directions for sociologists and anthropologists interested in the field of community genetics and its emerging networks of individuals genetically at risk. Community genetics-the application of medical genetics in community settings for the benefit of individuals-also involves social issues of lay-professional misunderstandings (and more recently also the different perspectives of various expert communities), stigmatization, discrimination, and medicalization. Focusing on a socio-anthropological perspective regarding the views and disagreements surrounding the definition and scope of community genetics, I overview several epistemological, methodological, and practical contributions that such perspective can offer to the study of community genetics.

Diversity and uniformity in genetic responsibility: moral attitudes of patients, relatives and lay people in Germany and Israel.

The professional and institutional responsibility for handling genetic knowledge is well discussed; less attention has been paid to how lay people and particularly people who are affected by genetic diseases perceive and frame such responsibilities. In this exploratory study we qualitatively examine the attitudes of lay people, patients and relatives of patients in Germany and Israel towards genetic testing. These attitudes are further examined in the national context of Germany and Israel, which represent opposite regulatory approaches and bioethical debates concerning genetic testing. Three major themes of responsibility emerged from the inter-group and cross-cultural comparison: self-responsibility, responsibility for kin, and responsibility of society towards its members. National contrast was apparent in the moral reasoning of lay respondents concerning, for example, the right not to know versus the duty to know (self-responsibility) and the moral conflict concerning informing kin versus the moral duty to inform (responsibility for kin). Attitudes of respondents affected by genetic diseases were, however, rather similar in both countries. We conclude by discussing how moral discourses of responsibility are embedded within cultural (national, religious) as well as phenomenological (being affected) narratives, and the role of public engagement in bioethical discourse.

Eugenic utopias/dystopias, reprogenetics, and community genetics.

The impetus for this review is the intriguing realisation that eugenics, viewed as dystopian and authoritarian in most of the 20th century, is in the process of being reinterpreted today--in the context of reproductive genetics--as utopian and liberal. This review offers an analytical framework for mapping the growing literature on this subject in order to provide a summary for both teaching and research in medical sociology. Recent works are subsumed and explored in three areas: historical criticism of the 'old eugenics'; the continuation of this stream in the form of criticism of reprogenetics as a new, 'backdoor' eugenic regime of bio-governmentality--an area which also includes the application of Foucauldian and feminist perspectives; and the recent enthusiasm regarding 'liberal eugenics,' claiming that reprogenetic decisions should be left to individual consumers thus enhancing their options in the health market. The review concludes by discussing and illustrating potential research directions in this field, with a focus on the social and ethical aspects of 'community genetics' and its emerging networks of individuals genetically at risk.

Can population-based carrier screening be left to the community?

As more genes and mutations are identified in diseases for which particular populations are at increased risk, it is becoming more important to address the social interface between communities and carrier screening. While disproportionately targeted in genetic research, the Orthodox Jewish community often shies away, due to social and religious constraints, from genetic testing and counseling offered by the public health system. The solution is provided by Dor Yeshorim--a program which has become for many a prototype for the successful merging of modern reprogenetic screening and traditional communities. My commentary focuses on the gaps between the rationale and practice of Dor Yeshorim, and the implications of these gaps regarding the trade-off involved in leaving carrier screening to the community. I conclude with a set of questions raised by the implications of the unintended consequences of community genetics.

Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma.

Dor Yeshorim, the premarital carrier testing program designed and implemented by the ultra-orthodox Jewish community, has succeeded in generating high uptake thus considerably reducing the number of children born with genetic diseases. Those critical of the program stress its directive and coercive features which are said to compromise personal autonomy, while those in favor emphasize its efficiency, cultural fit, and the reduction of stigma. This debate has so far, however, been addressed only from a top-down view representing the theories of community leaders and bioethicists, while the actual meaning and practice of carrier matching as experienced by community members have remained unexplored. Based on interviews with 24 ultra-orthodox women and 5 matchmakers in Israel, as well as on observations of instructions in the community, this exploratory study shows how Dor Yeshorim has been selectively incorporated into the traditional matchmaking process. We examine the unintended consequences of this selective assimilation, namely how messages that propagate ignorance and fear, as well as misunderstandings regarding the genetic basis of carrier matching, reinforce the continuing stigmatization of presumed carriers. The paper concludes by discussing the findings in the broader context of the social analysis of the ethics of community genetics.

"We came to talk with the people behind the disease:" communication and control in medical education.

To explore the ways in which biomedical culture responds to the new curricular addition of communication skills training, we observed activities related to the communication skills training of a class of 70 first-year medical students in an Israeli medical school during 2002-3. In addition, focus groups were conducted with medical students (n = 210) during 1998-2001. A gap was found between the rhetoric of "patient-centered communication" and "empathy" and the traditional concerns of medical authority, efficiency, and scientism. Communication skills and empathy training were appropriated into medical socialization by being reconstructed as clinical competence. Findings are further discussed in the context of medical professionalism, Israeli culture, service acting and service roles, and organizational learning.

Disability rights, prenatal diagnosis and eugenics: a cross-cultural view.

This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged from interviews with Israeli representatives of organizations "of'' and "for'' people with genetic diseases and congenital disabilities can be described as a two-fold view of disability: support of genetic testing during pregnancy, and support of the disabled person after birth. This two-fold view is explained as a secular construction situated in legal, economic and cultural contexts. The paper concludes by considering the implications of the "two-fold view'' of disability for the profession of genetic counseling. It is argued that awareness of the existence of conflicting views among clients--such as the view of the 'disability critique' as well as of the "two-fold view of disability''--should strengthen the significance of nondirectiveness.

Cousin marriage and premarital carrier matching in a Bedouin community in Israel: attitudes, service development and educational intervention.

CONTEXT: Premarital carrier matching is a form of genetic counselling in which two individuals are told, if both are carriers, that they have a 25% risk at each pregnancy of having a child affected by the disease for which they were tested. If only one individual is a carrier this information is not disclosed. This scheme is offered to a consanguineous Bedouin community characterised by high prevalence of genetic diseases and a religious ban on abortion. OBJECTIVE: To elicit attitudes of community members concerning cousin marriage and genetic counselling. METHOD: Semi-structured interviews were conducted with Bedouin respondents (n = 49). RESULTS AND CONCLUSIONS: Interviews revealed that a majority of Bedouin respondents confirmed the traditional and social role of cousin marriage. The main reasons given in this context were clan solidarity, interpersonal compatibility, preservation of family property, parental authority and social protection for women. A majority of the respondents also associated cousin marriage with genetic diseases. Regarding genetic testing, the majority of respondents preferred the option of premarital carrier matching, which was supposed to reduce stigmatisation, especially of women. Prenatal genetic testing was rejected on religious grounds. The result of this community-based and culture-sensitive process was a focus on premarital carrier matching.

Nondirectiveness and its lay interpretations: the effect of counseling style, ethnicity and culture on attitudes towards genetic counseling among Jewish and Bedouin respondents in Israel.

To evaluate the effects of ethnicity, culture, and counseling style on the interpretation of nondirectiveness in genetic counseling, a questionnaire containing premarital and prenatal case vignettes in two versions (pessimistic/optimistic) was administered to 281 Jewish and 133 Bedouin respondents. The first study population was comprised of Jewish students enrolled in a university and a community college in the Negev (southern part of Israel). The second study population was comprised of Muslim-Bedouin college students from the same area. The majority of Jewish respondents interpreted the nondirective message as intended by counselors, while the majority of Bedouin respondents did not. Counseling style was found to have a statistically significant effect on the interpretation of the general role of counseling. Gender and susceptibility were not found to have a significant effect on interpretation. Group differences are analyzed through a cultural lens in which different interpretive norms can generate expectations for either nondirectiveness or directiveness.

Between acculturation and ambivalence: knowledge of genetics and attitudes towards genetic testing in a consanguineous bedouin community.

UNLABELLED: The Bedouins of the Negev (Southern part of Israel) are a community at increased risk for genetic diseases and congenital anomalies as a result of frequent consanguinity (particularly patrilateral parallel-cousin marriage) and underutilization of prenatal genetic tests due to a Muslim ban on abortion. OBJECTIVE: To assess the knowledge and attitudes of Bedouin schoolchildren and their teachers towards a community-based, premarital carrier-matching program aimed at reducing the prevalence at birth of genetic diseases. METHODS: A questionnaire was presented to 61 teachers and 40 schoolchildren as part of guided interaction in small groups, conducted in Bedouin schools between 1999 and 2001. RESULTS: Susceptibility as well as knowledge of genetics were found to correlate with a positive attitude towards the genetics program among both teachers and pupils. However, pupils had a lower knowledge index as compared to teachers, and their attitudes were slightly less positive. CONCLUSION: The difference between teachers and pupils is discussed in the context of the latter's acculturation, which contradicts tradition and parental authority and can generate ambivalence. Attitudes are further discussed in the context of the Health Belief Model and the complex interplay of tradition, Islam, cousin marriage and biomedicine.