Pre-marital genetic counselling to consanguineous couples: Attitudes, beliefs and decisions among counselled, noncounselled and unrelated couples in Israel

Soc. Sci. Med. Vol. 41, No. 9, pp. 1301-1310, 1995

Pergamon

0277-9536(94)00433-1

Copyright '~ 1995 ElsevierScience Ltd Printed in Great Britain. All rights reserved 0277-9536/95 $9.50 + 0.00

PRE-MARITAL GENETIC COUNSELLING TO CONSANGUINEOUS COUPLES: ATTITUDES, BELIEFS AND DECISIONS AMONG COUNSELLED, NONCOUNSELLED AND UNRELATED COUPLES IN ISRAEL S H O S H A N A S H I L O H , I H A I K E R E Z N I K , -~M A R I A S S A B A T - M I R I A M - K A T Z N E L S O N 2"3 and B O L E S L A V G O L D M A N 2"3 ~Department of Psychology, Tel Aviv University, Tel Aviv, Israel, :Genetic Institute, Sheba Medical Center, Tel Hashomer, Israel and ~School of Medicine, Tel Aviv University, Tel Aviv, Israel Abstract--Semi-structured interviews were conducted with 65 Israeli subjects who received genetic counselling while considering marriage to a close relative, 40 subjects married to a close relative who did not receive pre-marital genetic counselling, and 125 controls married to a nonrelative and never having considered marrying a relative. It was found that 72% of the consanguineous couples who received pre-marital genetic counselling proceeded with their plans and married their relative: 86% of them reported that the counselling influenced their final decision to some degree. Counsellees' appraisals of genetic counselling revealed unfulfilled expectations to obtain more definitive answers, and mixed reactions to the nondirective approach applied by the counsellors. Comparisons between consanguineous and control couples revealed different views about consanguinity in general, and genetic risks in particular. Consanguineous couples, unlike controls, perceived consanguinity as an ordinary form of marriage, and had more favorable attitudes towards it. Compared to the noncounselled consanguineous group, consanguineous couples who received pre-marital genetic counselling had fewer children, estimated their genetic risk as lower but its subjective significance as higher, and perceived genetic disorders as more severe. The implications of these results are discussed from both theoretical and practical standpoints. Key words'--consanguinity, genetic counselling, birth defects, risk perceptions

INTRODUCTION Consanguinity--marriage between close relatives-once commonplace in many communities [1-5], has greatly declined in recent generations [6], although they still account for some 20-50% of marriages in many parts of Asia, Africa and the Middle East [7-11]. Despite the effects of industrialization, greater population movement, decline in family size and higher literacy rates on lowering the frequency of certain types of consanguineous marriage, a global increase in the number of such marriages is forecasted for the immediate future as Islamic doctrines urge a return to traditional practices [6]. This forecast is not restricted to the less developed nations, but applies as well to Western Europe and North America which have experienced sizable migrations from Asia and Africa in recent decades. Studies conducted among these immigrant populations indicate their continuing and even increasing practice of marriage to a close relative [12, 13]. Minority ethnic groups, like Jews living in countries where consanguinity is common, frequently marry close kin as well, presumably reflecting their acceptance of prevailing marriage norms [14-16]. In the Jewish population in Israel, the prevalence of consanguinity varies from 1-2% among Ashkenazi

Jews to 18% in communities that migrated to Israel from Iran and Iraq [14, 17-19]. Personal communication with genetic counsellors suggests a decline in this marital pattern in recent years, due perhaps to a change observed in the reasons for consanguineous marriage in these communities: once serving to preserve the Jewish community in the diaspora, the main reasons given in Israel today are family and cultural customs and tradition [14]. Attitudes of Western cultures and medical professionals towards consanguinity are often negative, ostensibly on health grounds [20-32]. Consanguineous marriage is regarded as a risk factor for birth defects and genetic diseases due to the expression of rare deleterious recessive genes inherited from a c o m m o n ancestor or ancestors. Despite the growing evidence that the deleterious effects of consanguinity are grossly exaggerated [33-36], health workers in Western countries often pressure these populations against the custom [29]. Notions about genetic risks associated with consanguinity seem to have penetrated even in societies where this kind of marriage is common, and have been integrated into more general attitudes and beliefs about consanguinity. Findings vary according to the population studied, ranging from a lack of

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understanding about the genetic risks involved in Saudi Arabia [37], to a continuation of the practice despite awareness of the possible consequences in a study in Lebanon [38]. Reports on pre-marital genetic counselling to prospective consanguineous couples are rare [29], and convey the impression that most couples find the discussion reassuring and proceed to have a family. In Israel, despite their relatively small numbers in the population, consanguineous couples who seek genetic counselling before marriage constitute about 4% of referrals to genetic clinics, thereby providing an opportunity to examine the process and its impact. In counselling relatives who wish to marry, when there is evidence of genetic disease in a family, the couple's risk of having similarly affected children is calculated, and they are offered carrier testing and prenatal diagnosis when available. In the majority of cases there is no evidence of a serious familial disorder, and couples are informed that while the general risk of any serious birth defect in unrelated couples is about 2-3 %, a first cousin couple has about twice this risk 4-6%. The practice of genetic counselling in Israel tends to be nondirective [39], counsellors provide information about risks, answer questions about genetic facts, but, refrain from recommending what decision the couple should make. The present study was carried out to examine the impact of genetic counselling on consanguineous couples" decision to marry and have children. It investigates the knowledge, beliefs, attitudes, decisions and behavior regarding genetic risks, consanguinity and birth defects among consanguineous couples who either did or did not receive genetic counselling before marriage, and a group of unrelated couples. The study takes into account that cognitive, attitudinal and motivational factors underlie the complex processes of risk perception and decision making following genetic counselling [40-50], and therefore addresses the questions: What do couples learn and remember from premarital genetic counselling? What do they decide, and how do they make their decision? How does the information learned in genetic counselling affect their beliefs, attitudes and behavior? METHODS

Sample

Three groups of Israeli Jews participated in the study: counselled cousins, noncounselled cousins and unrelated controls. *Comparisons between female and male interviewees on almost all variables showed no differences, therefore, results are presented on combined gender groups. The only exception was females' reports of higher genetic risks and higher subjective interpretations of genetic risks in the general population (not their personal risk). This can be a spurious finding resulting from the large number of comparisons, or an expression of women's higher concerns about genetic risks.

Counselled cousins. 65 interviewees: 29 married couples and 7 individuals (4 men and 3 women) who decided not to marry following counselling, gleaned from the 1984-1990 records of a genetics clinic in a large general hospital near Tel Aviv. In 50% of all the counselling cases of that period at least one of the partners agreed to be interviewed. Reasons for refusal were lack of time and/or interest. No differences were found between those who refused to be interviewed and the interviewed group in any of the variables that could be drawn from their medical records, like age, background or clinical factors. They agreed, however, to report their marital status, which was later analyzed in comparison to the other groups. Noncounselled cousins. 20 consanguineous couples contacted by public health nurses in communities near the hospital, that haven't received genetic counselling and agreed to participate in the study. Of the 49 consanguineous couples (29 counselled and 20 noncounselled) 73% were first cousins, 23% second cousins and 4% third cousins. Unrelated controls. One hundred and twenty five subjects, 76 women and 49 men, matched with 'cousins' for age and area of residence. 30% were relatives of the consanguineous subjects, but had never considered marrying a relative, and 70% were recruited randomly in the hospital maternity ward. There were significant differences in ethnic background between the consanguineous and unrelated groups 0C'= 53.26, P < 0.001): 48% of the control group and 9% of the consanguineous group were Ashkenazi; 50% of the consanguineous group and 18% of the control group were of Iranian/Iraqi origin. Control subjects were more educated than the consanguineous subjects (mean --- 13.56 + 2.64 years of education vs mean = 11.97_+ 1.74, t = 5.46, P < 0.001). There were no significant differences in education between the counselled and noncounselled consanguineous groups. Data collection and analysis

Counsellees eligible for the study were contacted by letter, followed by a telephone call. Participants were interviewed at home or in the hospital by one of the authors (H.R.). When both spouses participated in the study, they were interviewed separately. All interviews included questions about beliefs and opinions on consanguinity and genetic risks. Female subjects were also asked about their obstetric history and health in the family (assuming they are a more reliable source of such information than men, especially with regard to children's health)*. Consanguineous couples were asked about their personal experience with marrying a relative, and counselled couples were asked about their reasons for seeking counselling, the counselling process itself, and its perceived impact on their life. Interviews lasted 15 min in the control group to 1 hr in the counselled group. Additional background and

Genetic counselling to consanguineous couples medical data were collected from the medical records of counselled subjects. The interviews were semi-structured. They included questions requiring a yes/no answer ('Did the counsellor tell you whether you should marry your cousin?'); questions with 5-point evaluation scales ('How did your family accept your decision to marry a cousin?" 5 = v e r y favorably...3 = neutral... 1 = very opposed): and open-ended queries like: ~How did the genetic counselling affect you?' These data allowed for quantitative as well as qualitative analyses. Open-ended questions were content-analyzed, reaching 90% agreement between two researchers on categorization of answers. Disagreements were resolved by discussion. Comparisons among the research groups on quantitative data were performed by statistical analyses (~, ANOVA).

RESULTS

Counsellees" marital decision Fifty-two (72%) of the 72 couples who received premarital genetic counselling subsequently proceeded with their marital plans and married their relative: 29 of 35 (83%) couples in which at least one partner was interviewed, and 23 of 37 (62%) couples who refused to be interviewed. The 65 interviewed counsellees' confidence in the decision to marry their relative prior to genetic counselling varied: 62% reported being completely confident about their decision, and 3% (who eventually did not marry) were totally uncertain; the rest reported intermediate degrees of confidence. Despite the high percentage of reported certainty, 77% of the counsellees made their final decision only after counselling. 80% did not start practical preparations for their marriage, like renting an apartment or choosing a wedding hall, before genetic counselling. Only 19% publicly announced their intention to marry, and just 12% were officially engaged before genetic counselling. Since most counsellees (77%) regarded engagement as a commitment to marry, and its break as having negative consequences for the couple, they seemed to prefer to delay committing themselves until after genetic counselling. While most interviewed counsellees (89%) said they did not change their decision after genetic counselling, 26% reported feeling more confident about their decision, and 9% were less confident. Most counsellees stated that genetic counselling influenced their final decision to some degree (86%). Those who eventually married their cousin expressed feeling relieved and reassured after counselling, while the 7 subjects who decided not to marry reported doing so after learning that the risk was too high. Review of their medical records showed that the risks communicated to them in genetic counselling were indeed somewhat higher

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because of disease in family (mean 6% risk) compared to the other couples (mean 4% risk). Most interviewees (65%) claimed that the romantic relationship with their cousin started incidently, and only 35% reported an arrangement in the family. 17% said their families were strongly opposed to their marriage. A question about pro and con considerations before deciding to marry revealed some of the underlying factors affecting consanguineous marriages. The main positive factors (42%) mentioned in favor of marrying their cousin were not specific to consanguineous marriage, but were related to aspects of the relationship like love, understanding and getting along together, and to virtues of the spouse (22%), like personality traits. Only 5 subjects (8%) mentioned considerations specific to consanguinity: feeling secure by staying in the same family, better knowledge of the spouses' family and tradition. The main consideration against marrying a relative (39%) was the genetic risk for children, although many added that unrelated couples also have a risk. Additional specific concerns mentioned were lack of privacy, too much involvement of the family in the couples' life, and a negative social stigma CPeople will say they could not find a spouse, so the family put them together', "They'll have defective children', "They're primitive'). 22% expressed concerns that are not specific to consanguinity, like the spouse's characteristics and their relationship.

Counsellees" appraisals o['genetic counselling Most counsellees (77%) reported having been eager to receive genetic counselling before deciding to marry: 42% initiated referral to the genetic clinic themselves, 34% followed the advice of a family member to seek counselling, and 25% were referred to genetic counselling by a health professional. Most (60%) reported being apprehensive before counselling about what they might hear, fearing being told they should not marry, or that their risk for having defective children is too high, Most counsellees remembered having specific expectations before genetic counselling: 51% expected to have blood tests to determine if they were "genetically fit' (which is utterly impossible); and 45% expected to get information about risks, genetic tests and a professional opinion about consanguinity. Part of the interview focused on counsellees' appraisals of the counselling process, especially its nondirective approach. 11% reported that the counsellor directly advised them what they should decide, 66% said that although the counsellor did not give explicit advice, they could guess his/her opinion about the right decision, and 23% said that they had no idea what the counsellor thought. Of those who reported getting or guessing the counsellors' advice, 82% perceived that the counsellor had a positive opinion about their marriage, and that the genetic risks were too low to justify changing their plans. Interviewees were divided in their preferences for

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nondirective counselling: 46% would have liked to get direct advice from the counsellor, 36% said the counsellor should only provide information and not advise the couple about the right decision, and the remainder expressed mixed feelings. Many counsellees (65%) had suggestions about how to improve pre-marital genetic counselling. The most frequent suggestion (40%) was to provide tests of couple's genetic compatibility. Other suggestions conveyed disappointment that the counselling was too general and standard, and discussed cousin-marriage in general rather than their specific case. Some interviewees expressed a desire for more personalized information, more information on genetic diseases, prenatal diagnosis or examples of families coping with genetic defects (17%). Some recommended the counsellor give direct advice on the right decision (15%), and others (14%) had procedural suggestions, like involving fewer professionals in the counselling to ensure confidentiality. Despite suggestions for improvements, which can be viewed as indirect criticisms, the majority (91%) highly recommended that consanguineous couples get genetic counselling before deciding to marry. The main reasons mentioned were: being informed about the risks involved, getting a thorough check of the family pedigree and possible genetic diseases in the family, and knowing in advance what they face. 23% said consanguineous couples should seek genetic counselling for reassurance, to reduce their fears and to increase their confidence. 7% said genetic counselling will help the couple reach an informed decision, and only 9% said counselling is unnecessary because it doesn't provide tests and definitive answers, and may confuse the couple rather than reassure them.

Beliefs and attitudes about consanguiniO' Before discussing specific questions on consanguinity, subjects were asked 'What do you think of consanguineous marriage?' Answers were categorized into 5 groups: 'ordinary'--not different from any marriage; 'frightening'--because of risks to the children; 'stigmatic'--primitive; 'evaluative'--good/ bad marriage; 'factual'--description of the marriage without an evaluative sense. The findings presented in Fig. 1 show significant differences between the first impressions expressed in the different groups. Subjects in both the counselled and noncounselled consanguineous groups tended to describe consanguineous marriage as more ordinary, mentioned fewer genetic risks, and used less evaluative terms than the control subjects. While the majority (93%) in the control group said they would not recommend consanguineous marriage, the consanguineous groups were divided: 42% would recommend such a marriage and 41% would not (the remaining were undecided). This difference between the groups was significant (Z2 = 74.59, P < 0.001). Group differences were revealed again when asked about their reaction to their own child's wish to marry

80

[]

Counselled

70

[]

Noncounselled

60

[]

Controls

~/

50 40 30

¢

20

/ /

10 0

Ordinary FrighteningStigmatic Evaluative Factual

)~2 28.84 P <0.001

11.85 <0.01

4.36 NS

12.86 <0.01

0.25 NS

Fig. 1. Beliefs on consanguineous marriages among 'counselled cousins" (n = 65), "noncounselled cousins' (n = 40) and control subjects (n = 125). Percentages do not sum to 100 because some subjects gave more than one answer.

a cousin. 75% of the control group stated they would oppose such a marriage, and 48% of the noncounselled group and only 28% of the counselled group would be opposed (Z'-= 32.40, P < 0.001). The reasons interviewees gave for their attitudes were divided into genetic fears versus marital quality concerns (like relationships with the spouse and his/her family). Again, the distributions of answers indicated group differences. Most of the control group (55%) based their recommendations on genetic risk considerations, while only 33% of the noncounselled and 25% of the counselled consanguineous subjects based their recommendations on this concern. The opposite trend was found with regard to ~quality of marriage' considerations: 49% of the counselled group, 36% of the noncounselled group, and only 14% of the control group mentioned these considerations as reasons for their recommendations (Z2= 27.26, P < 0.001). Finally, subjects were asked "Why do people (for the 'cousins' subjects: ~not yourselff) marry their relative?' Answers were categorized into 4 clusters: " c h a n c e ' they incidentally fell in love with their cousin; 'tradition'--traditional family customs; 'accessibility'--they have more chances to meet and become attached to each other; 'interests'--financial and other family interests. As presented in Fig. 2, the only category where group differences were observed was "chance', which was mentioned less in the control group than in either of the consanguineous groups

BelieJs and attitudes about genetic risks Responses to a general question: 'What does genetic defect/disease mean to you?' yielded 4 categories of answers: "emotions'--reactions like fear, shame, compassion; 'syndromes'--names of genetic disorders like 'Down's syndrome'; 'evaluation'--of its severity, consequences for the family, loss of control;

Genetic counselling to consanguineous couples 90 80 70 60 50 40 30 20

10 0 Chance X2 P

17.76 <0.001

Tradition Accessibility Interests 4.02 NS

1.19 NS

1.52 NS

Fig. 2. General reasons for consanguineous marriages among "counselledcousins' (,7 = 65), "noncounselledcousins" (n = 40) and control subjects (n = 125). Percentages do not sum to 100 because some subjectsgave more than one answer.

'explanations'--medical and other causes. As presented in Fig. 3, there were significant differences among the groups in 2 categories. Control subjects had more syndrome and less evaluative associations than either consanguineous groups. In most categories, counselled subjects were more similar to the control group than noncounselled subjects. When asked to evaluate the severity of an unspecified genetic defect on a 5-point scale, the counselled group gave the most severe evaluations (mean = 3.94 + 1.31), compared to the control group (mean 3.59 + 1.15), and the noncounselled group (mean 3.25 ___ 1.43, F = 3.86, P < 0.005). Subjects' estimations and evaluations of genetic risks (occurrence chances) were examined by separate questions about the risk of having a defective child for couples of cousins, for unrelated couples, and for themselves. Their answers were given first in percentages (objective scale), and then on a 5-point subjective scale. The results (Table 1) show an interaction between study groups and the different scales. 'Objective' estimations of genetic risks for consanguineous and unrelated couples made by

I

Counselled

60 ~- [ ]

Noncounselled

5(I ~

Controls ~ .

[]

2o3° t i ¢/

0

Emotions Syndromes Evaluation Explanation X2 P

1.05 NS

12.99 >0.01

6.34 >0.01

0.06 NS

Fig. 3. Associations with genetic defects among 'counselled cousins' (n = 65), 'noncounselled cousins" (n = 40) and control subjects (n = 125). Percentages do not sum to 100 because some subjects gave more than one answer.

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counselled subjects were 3-5 times lower than estimations made by the other groups, but still about double the correct risk figures. Counsellees' subjective evaluations, however, were between the two other groups: they evaluated the risks for consanguineous couples as lower than the control group but higher than the noncounselled consanguineous group, and their evaluations of risks for unrelated couples were higher than the controls, but lower than the noncounselled group. Evaluations of own risk revealed interesting patterns. The variance of objective estimations (percentages) in the noncounselled consanguineous group was especially notable, which may have impeded finding significant inter-group differences in that variable, despite the marked mean differences. However, counselled cousins" subjective evaluations of this risk were higher than those of the noncounselled consanguineous subjects, while their objective evaluations tended to be lower. Also, in all three groups, subjective own-risk evaluations were lower than evaluations of risks in the relevant (related or unrelated) reference group. However, with regard to objective estimates, this optimistic bias was observed only in the control and the noncounselled groups, while the counselled group perceived their own risk as similar (even a little higher) than the risk for consanguineous couples in general. When asked about causes for birth defects, subjects in all groups provided similar explanations. They mentioned most frequently hereditary and genetic causes: 45, 63 and 49% in the counselled, noncounselled and control groups, respectively. Other, less frequent explanations were pregnancy and birth complications, blood problems, maternal age, parental health, environmental causes and bad luck.

Reproductive behavior When the number of children in the studied families was considered (Table 2), consanguineous couples who received genetic counselling prior to marriage had fewer pregnancies and fewer children than their noncounselled counterparts and than the unrelated control group. This difference was significant even after statistically controlling for age, time since marriage and extent of religious practice. No differences were found between cousins and controls with regard to fertility problems or the mortality and general morbidity rates of their offspring: one consanguineous family lost a child due to a genetic disease and one control family lost a child in an auto accident; 8 children of cousin couples (10% of the 84 children) and 10 of the control couples (6% of the 173 children) had some kind of a chronic condition (a nonsignificant difference). Significant differences between the groups were found only with regard to birth defects caused by recessively inherited genetic conditions: 6% in the cousins groups and none in the control group.

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Shoshana Shiloh et al. Table 1. Evaluations of genetic risks for related and unrelated couples in general and for oneselves among "counselled cousins" (n = 65), 'noncounselled cousins' (n = 40) and control subjects (n = 125) Counselled Noncounselled cousins cousins Controls Signif.F/P Related couples:

Percentages: M SD Subjective scale* (I-5): M SD

9.24 14.43

38.86 27.93

42.70 29.58

19.23 <0.001

2.84 1.30

2.74 0.99

3.33 0.95

6.80 < 0.001

4.27 9.68

11.50 23.76

12.79 13.50

4.22 < 0.005

t.79 0.97

2.09 1.07

1.60 0.72

4.32 < 0.005

Unrelated couples

Percentages: M SD Subjective scale (1-5): M SD Ourselves

Percentages: M 10.28 25.33 8.13 1.17 SD 18.70 38.68 10.41 NS Subjective scale (1-5): M 2.41 2.31 1.44 13.25 SD 1.04 1.20 0.71 <0.001 *The subjective scale ranged from 'very low risk' = I to "very high risk" = 5.

DISCUSSION lmpact o f premarital genetic counselling on marital and reproductive decisions If all related couples seeking genetic counselling intended prior to counselling to m a r r y their relative, the estimated 2 8 % w h o eventually changed their plans would reflect a considerable impact of genetic counselling. But, the role o f genetic counselling in decisions is n o t primarily in change: its m o s t noticeable effect is o n decisional confidence. C o n s a n g u i n e o u s couples seeking premarital genetic counselling withheld their final decision until after counselling, a n d most reported the counselling reassured them a n d affected their final decision. This c o r r e s p o n d s to findings in studies on the effects of genetic counselling on counsellees' reproductive decisions, in which influences are n o t a n a l o g o u s to changes, a n d counsellees are sometimes not even conscious of counselling impacts o n them [51]. One decision t h a t is usually not directly addressed in premarital genetic counselling, a n d t h a t according to o u r results may be affected by it, is the decision a b o u t the n u m b e r o f children a couple will have. W e f o u n d that counselled couples h a d significantly fewer

children t h a n noncounselled a n d unrelated couples. O t h e r researchers who f o u n d fewer children a m o n g c o n s a n g u i n e o u s couples [52] attributed it to a higher probability o f homozygosis of deleterious genes, which may impede fertility. In o u r study, fewer children could not be attributed to biological causes since it was f o u n d only a m o n g counselled (vs noncounselled) cousins, and was u n a c c o u n t e d for by gynecological/obstetrical problems like infertility, recurrent miscarriage, etc. In a n o t h e r study [53] where patrilateral parallel cousin marriages were found to produce significantly fewer children t h a n n o n p a t e r n a l cousin unions, it was hypothesized that intimate c h i l d h o o d association breeds sexual disinterest a n d dissatisfaction when these couples marry, leading a m o n g other consequences to fewer children. In c o n t r a s t to these findings, large-scale surveys conducted in m a n y countries indicated greater n u m b e r s o f infants b o r n to closely related couples [6]. It was suggested that b o t h biological a n d social considerations must be taken into account to explain these findings. U n i o n with a close relative enables earlier marriage and younger m a t e r n a l age at first livebirth, factors which can increase b o t h the pace o f fertility a n d completed family size [6]. Also, the greater

Table 2. Means and standard deviations of pregnancies and children among ~counselled cousins' (n = 65), 'noncounselled cousins' (n = 40) and control subjects (n = 125) Counselled Noncounselled cousins cousins Controls Significance*F/P Pregnancies: M 1.30 3.43 3.08 3.63 SD 1.31 2.18 1.89 < 0.005 Children: M 0.87 2.72 2.30 16.13 SD 1.02 1.55 1.08 < 0.001 *Controlled for age, time since marriage and religiousity.

Genetic counselling to consanguineous couples number of births in consanguineous marriages is in part a reproductive compensation response to increased early postnatal mortality [54]. In our study, age, time since marriage, children's mortality, and religious considerations were examined and ruled out as possible causes of different family sizes. In contrast to other studies where consanguineous couples were regarded as a homogeneous group, our differentiation between counselled and noncounselled couples allowed a glimpse into the process of reproductive decision making in consanguineous couples. It seems that counselled consanguineous couples, who were more worried about health consequences as indicated by their higher subjective evaluations of their own risk (despite their lower and more correct estimates of the "objective' risk), and their more severe evaluations of genetic disorders, decided to have smaller families. The rationale might be that, after having one (or two) healthy children, one should not push one's luck, and that being 'at-risk' they should be satisfied with what they have. The possibility that genetic counselling caused these worries can not be ruled out, but is unlikely. Most counselled subjects reported that the counselling reassured them, they learned that the risk was actually lower that they thought (and the other subjects still thought), and they eventually decided to marry based on these understandings. It is more likely that counselled subjects represent a self-selected group of more worried~ vigilant people who sought genetic counselling in the first place because of these characteristics, and despite their evaluation that the risk was acceptable for their marital decision, they still perceived it as threatening enough to restrict their family size. These speculations should be examined in studies that address reproductive decisions more directly. We suggest that the inconsistent findings regarding the number of children in consanguineous vs nonconsanguineous families can be explained by awareness of genetic risks. In societies where western medical knowledge, including about genetics and heredity, is more common, the chances are that consanguineous couples will have fewer child ren, while in other societies the trend may reverse. And even within one society, we hypothesize that the family size of consanguineous couples correlates with their awareness, subjective perceptions and worries about genetic risks.

Beliejs and attitudes about consanguinity and genetic risks In order to examine whether consanguineous status or genetic counselling affected beliefs and attitudes about consanguinity and genetic risks, we compared consanguineous couples with unrelated controls, and counselled with noncounselled consanguineous couples. Consanguineous couples compared to unrelated couples perceived consanguinity as a much more ordinary marriage, had more favorable attitudes towards it, and described more unspecific consider-

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ations leading to it (love, spouse's characteristics). They did not ignore or deny the specific attributes and considerations involved in consanguineous marriage, especially the genetic risks and familial complications. But, unlike unrelated couples, they viewed these factors as a small part of a wider picture, while the control subjects had a more restricted, stereotypic, simplistic and negative conception. The views expressed by the unrelated couples were more focused on the unique characteristics of consanguinity, while consanguineous couples were more focussed on the common and conventional attributes. These data accord with social psychological findings on differences of views between in-group and out-group members [55, 56]. Contrary to expectations, genetic counselling did not appear to raise awareness of genetic risks--on the contrary, it reduced their estimates. We found that genetic risks associated with consanguinity were dramatically exaggerated in the general public, by unrelated and noncounselled consanguineous couples alike. It seems that the less people know about the subject, the more threatening it appears. The impact of genetic counselling on risk estimates was marked. Counsellees seemed to have learned the facts delivered in genetic counselling, and estimated the risk as 3-5 times lower than the other groups. Recent research [57] showing that perceptions of genetic risks conform to general cognitive heuristics and biases in judgement of uncertain events [58] and risk appraisals [59] can explain some of the results obtained in the present study. For example, control subjects highly overestimating (about 8 times) the risk for birth defects in consanguineous families can be attributed to a cognitive heuristic called 'representativeness' [58]: judging the likelihood that an instance belongs to a specific category by virtue of its match or resemblance to that category. The highly representative concurrence of consanguinity and birth defects in the minds of these subjects made this bias so appealing. The "optimistic b i a s ' - - " i t won't happen to me" [60] was expressed in the lower estimates subjects in all groups had of their own risk compared to that in the general population of their marital status. The importance of social comparisons in evaluating the significance of personal risks [61] emerged when counselled consanguineous couples learned their risk was slightly higher than that of other related couples (their reference group), evaluated it as unacceptable and decided not to marry, while most of those who learned their risk was the same as their reference group went through with their marital plans. This indicates that beyond factual risk information, being more, the same, or less "at-risk" than others is particularly important for further evaluations and decisions.

The genetic counselling process: expectations and realio' One of the most prominent findings concerning counsellees' appraisals of genetic counselling was the

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unfulfilled expectation and wish to undergo genetic tests that would determine the genetic fit between the spouses. This wish signifies a general desire to reduce uncertainty [62, 63], especially when making major personal decisions, and the fact that genetic counselling can only enumerate levels of uncertainty by providing specific risk figures is disappointing to most counsellees. The distress of continuing uncertainty and the status of being 'at-risk', despite having more accurate knowledge of the likelihood of genetic disorders, has been recognized as a major outcome in other studies of genetic counselling [44]. These findings have practical implications with regard to improvements in genetic services in two areas: public education, and decision-making counselling. Potential clients' expectations of genetic counselling can be made more realistic by educating the public (as well as primary health care providers) about both its merits and limits. Attempts were made recently in this direction with various populations and educational methods [64-66]. For those who eventually receive genetic counselling, the process would be much improved if, in addition to explaining the genetic facts, counselling would offer help in dealing with the confusion and distress caused by uncertainty. Different models of genetic counselling that incorporate psychological and decision-making support [67-69] may be the answer to concerns raised by our subjects about getting a more personalized genetic service. Another important issue raised by the counsellees was the nondirective method of counselling. Genetic counselling is one of the first medical areas to adopt a nondirective, patient participation approach as its norm--an approach that conflicts with clients' prior experience with a directive, paternalistic medical environment. Counsellees were equally divided between those who approved and disapproved of this counselling strategy. Not being prepared for it, clients reacted in different ways, like trying to guess the counsellor's opinion. Counsellees in another study [50] were found to use counsellors' neutrality as a cue for interpreting the severity of the information provided. A discussion of the meaning, ideology, uses and misuses of neutrality in genetic counselling has been initiated in the literature [70], and may become significant to other medical areas, such as patient participation in treatment decisions. Future studies on genetic counselling for consanguineous couples should extend the present study by posing more questions about issues like the actual communication process during counselling, and counsellors' perceptions about what they thought they had communicated and their responses to the perceptions of the clients. Cultural considerations

Concerns about possible negative consequences of well-meant genetic programs that collide with cultural backgrounds have recently been raised with regard to genetic screening in Asian refugees in California [71],

and educational programs addressing the genetic consequences of consanguinity among Bedouin tribes in Israel [72]. In Britain as well, medical contacts involving the implications of consanguineous marriage have been found traumatic for the Pakistani population, with a destructive impact reverberating through the family [29]. Unfortunately, in the Middle East and Asia, media campaigns against cousin marriage are still being set up on eugenic grounds, without any consideration of the social role of customary consanguinity [29]. A common conclusion by all who addressed the issue was that the genetic implications of consanguineous marriages need to be seen in context, and that criticisms and efforts to disrupt traditional marriage patterns should be avoided. The advantages of lowering rates of consanguineous marriage should be weighed against the costs, and the service should be adapted to cultural needs rather than the opposite [6, 38, 29, 72]. There is an agreement among authors that rather than advising against consanguineous marriages, avoidance of the birth of children with serious congenital disorders can be achieved by family counselling, screening before and during pregnancy, prenatal diagnosis, and selective abortion of affected fetuses, which is acceptable in most populations encountered. This way, public health and preventive medicine goals can be achieved without disrupting deep-rooted social structures. An optimal genetics service and counselling should be sensitive to social and cultural background. It is especially important that this attitude be adapted by general practitioners, obstetricians and other primary health care personnel who have the most contacts with, and exercise the most influence on these populations [73]. Methodological considerations

The retrospective design of the present study reduced its power as an evaluative study of genetic counselling. We could not rule out the possibility that differences between the experimental (counselled) and control (noncounselled) groups were caused by a selection bias of the counsellees rather than by direct impacts of the counselling. And, indeed, we had some indications that subjects in the counsellees' group might be more worried and vigilant than the noncounselled group. Furthermore, we found that more of those who refused to participate in the study had changed their marital plans following genetic counselling than did participants, indicating that the real influence of counselling may have been stronger than we could evaluate. In the health field it is often ethically impossible to conform to scientific requirements by randomly assigning subjects to experimental and control groups, and deny a service to those who need it. However, it is recommended that a prospective study be conducted to follow-up counsellees from before to a few years after counselling, enabling detection of changes that can more reliably be attributed to counselling.

Genetic counselling to consanguineous couples A m a j o r question raised in a study like the present one concerns the generalizability o f results to other populations. O u r findings confirmed, but differed somewhat, from those of other studies o n the subjects of a r g u m e n t s for a n d against c o n s a n g u i n e o u s marriages, advice to children, awareness of health p r o b l e m s caused by consanguinity, a n d the necessity a n d impact of genetic counselling [37, 38]. These differences stem partly from the different cultures a n d samples studied, but one must also consider the possible influence of the different study designs; for example, the extensive use of yes/no questions in the interviews c o n d u c t e d by K h l a t a n d colleagues [38], vs the open questions a n d rating scales used by us. In our study we found a few instances of different results o b t a i n e d by different measures of presumably the same variable. Risk perceptions m e a s u r e d o n a subjective scale yielded different findings t h a n did percentage scales, and estimates a b o u t own risk differed from those o f one's own group as a whole. Similarly, subjects' appraisals of the influences of genetic counselling on their decision to m a r r y their relative differed according to h o w the question was phrased ( ' H o w m u c h influence did genetic counselling have on your decision to marry?'; ' H a s counselling affected your decision to marry?' ' W h e n did you m a k e your final decision?" "How confident were you a b o u t your decision before a n d after counselling?'). The different results o b t a i n e d by the different measures were a valuable source o f i n f o r m a t i o n a b o u t the complex underlying processes, a n d gave additional insight into the studied questions. It is therefore r e c o m m e n d e d that studies in this field employ multi-indices for measuring research variables. A t t e m p t should also be m a d e to standardize measures across cultural groups to allow better clarification o f cross-cultural differences, free of differences caused by methodological artifacts.

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