Research Article, J Genet Disor Genet Rep Vol: 7 Issue: 2
Patterns of Utilization of Genetic Services Following the Initiation of Community based Primary Care Carrier Screening in a Traditional Muslim Community
*Corresponding Author : Abu-Rabia R
The Department Public Health, Faculty of Health Sciences, Ben-Gurion University of the Negev, Israel
Tel: +(97) 2506263911
E-mail: [email protected]
Received: July 02, 2018 Accepted: July 16, 2018 Published: July 23, 2018
Citation: Abu-Rabia R, Rabia AA, Birk O, Shoham-Vardi E (2018) Patterns of Utilization of Genetic Services Following the Initiation of Community based Primary Care Carrier Screening in a Traditional Muslim Community. J Genet Disor Genet Rep 7:2. doi: 10.4172/2327-5790.1000175
Consanguineous marriages could result in high incidence of autosomal recessive diseases, leading to high rates of infant mortality, morbidity and severe permanent handicap. In the current study we aim to assess the effectiveness of a community based genetic advisory service (CGAS) that was initiated in 2005 to improve the utilization rate of genetic counseling and carrier testing among Muslim Bedouin population in Israel. Data were collected from the CGAS intake records of couples or individuals who attended the CGAS through 2005-2006.
Of the 1433 referrals to the CGAS during the year 2006, 719 (50.1%) were referred by primary health providers as they belonged to families associated with autosomal recessive genetic diseases. Most (N=1043, 73.0%) of the referrals were pregnant women, 583 (81.0%) were in consanguineous marriages, 340 (58.3%) of which were married to first cousins. Of all those in consanguineous marriages, 456 (78.2% out of 583) were referred for carrier status genetic tests, 17.7% had been tested in the past, and 4.1% refused testing. Results indicate that a culturally compliant community-based genetic advisory service, along with full coverage of costs was found to be effective in achieving high rate of informed carrier testing. Informing couples of their risk lead to early referrals and relatively high acceptance of fetal testing by CVS in conformation with religious rules.
Keywords: Genetic services; Prenatal detection; Bedouin Arabs; Community-based genetic advisory service
Consanguineous marriages are mostly prevalent among traditional societies. The prevalence of consanguinity and rates of this type of marriage can vary widely within and between populations and communities, depending on ethnicity, religion, culture, and geography [1,2]. One of the most predominant populations which consanguineous marriages are prevalent in, is Muslim population. Thus, consanguineous marriages, are a worldwide tradition among Muslim societies and in specific populations comprise up to 50% of the marriages . The resulting inbreeding is associated with increased genetic risks to the offspring, child mortality and morbidity . Previous studies assessed the health effects of consanguinity, found about 2.5 fold higher rates of genetic anomalies, in consanguineous couples as compared to not-related controls [4,5]. For example, in Pakistan, the risk for prenatal mortality was shown to be 2 times higher with consanguinity . In Saudi Arabia, where the rate of consanguineous marriages is 56%, a high frequency of autosomal recessive disorders and increased frequencies of homozygosity for autosomal dominant traits was found , with significantly increased incidence of congenital malformations and congenital heart diseases . These findings emphasize the crucial genetic risk associated with consanguineous marriages, and hence, facilitate the need for appropriate interventions for consanguineous couples to utilize genetic services in order to decrease risk for child mortality and morbidity.
The necessity for premarital screening programs among Muslim populations as a major public health prevention initiative has recently regained public interest . The rate of reported congenital malformations in Iran is 2.0% among neonates born to nonconsanguineous marriages as compared to 7% in consanguineous marriages [7,8]. In Iran, genetic diseases–most notably betathalassemia- are common and receive specific attention. Most noteworthy is Iranian large screening program for beta-thalassemia, which utilizes also mass media publicity . The Iranian betathalassemia screening program is designed to decrease the prevalence of beta thalassaemia and includes mandatory premarital blood tests in primary care clinics [10,11]. Premarital testing prevented the serious dilemmas associated with couples learning of their risk for the first time during pregnancy without having termination as an option . In addition, the incidence of thalassemiain in Iran decreased.
The Bedouins of southern Israel comprise a traditional Muslim community in which consanguineous marriages are deeply rooted culturally and expressed by 58.3% of marriages with first cousin, leading to high prevalence of autosomal recessive diseases [3,5,13]. The Bedouins live in large isolated tribes where marriage of women outside the tribe is forbidden, leading to specific genetic diseases in each tribe. Regardless of decades of educational efforts through the hospital-based genetics institute, prevalence of premarital and prenatal diagnostic tests is still low among Bedouins due to their traditional faith.
In this study we examined the effect of initiating readily-available community-based culturally-adjusted genetic services given by Arabic nurses on the compliance to genetic premarital and prenatal testing.
Materials and Methods
The study was conducted among the Bedouin community in southern Israel. A new, nurse-led, counseling service was initiated in 2005 by the Clalit Health Maintenance Organization (HMO), addressing the low utilization of genetic screening services among the Negev Bedouins. The goals of the service were mainly to provide education of Bedouins about the genetic diseases and the availability of screening test. Promotion of prevention program was conducted in several channels. First, the medical staff in the clinics informed the local community regarding the prevention program in major educational public gatherings. Second, advertising of the service was conducted also through the local media and applying an introductory leaflet in the identified clinics. Finally, the nursing staff conducted educational tutorials in schools, as well as meetings with youth, parents and religious leaders.
Study population included all visits provided in seven Bedouins towns and villages that were scheduled at the CGAS during the year 2006. There were 1433 couples or individuals referred to the educational community genetic advisory service (CGAS) during 2006. Of these, 719 (50.1%) were referred by primary health providers because they belonged to families in which there are known autosomal recessive genetic diseases for which government-funded screening carrier tests were available. Following an intake interview in the CGAS, conducted by an Arabic speaker specially trained nurse obtained detailed medical and family history, only 583 (81.0%) were found to be in consanguineous unions, meeting the criteria for free carrier status testing. Of those 583 individuals, 103 (17.7%) were found to have been tested before and 24 (4.1%) refused to be tested.
Data collection and description of variables
Data were collected retrospectively from the registry of CGAS. The analysis was done based on data collection over the course of the 12 months of the service implementation, included 719 individuals. After couples got information about genetic diseases and ways to prevent it, they were offered the screening test. Following signing consent forms, venous blood was drawn. If the woman came alone, stepwise test was performed. Analysis of the DNA performed in Soroka medical center on the genetic unit. In the case that one spouse was known as a carrier, the other was invited to be tested and was offered genetic counseling. Carriers were informed about the nature of the disease, the risk of being carrier, and the implication of her/his carrier status for their relatives. In cases of negative results, a letter summarizing the findings and the genetic counseling was sent by e-mail. Variables collected regarding the service attendees included demographic and obstetric variables: age, gender, marital status (premarital, pre-conception or prenatal).
The degree of consanguinity status between husband and wife was recorded in 4 categories: 1-first cousins: marriage between offspring of two siblings, 2-second cousins: first cousins once removed, 3-remote: from the same tribe, 4-not related. Marriages between first, second and remotely related individuals were regarded as consanguineous. Nonconsanguineous marriages were excluded from the analysis. Other data collected were: order of marriage (first wife vs. second wife), pregnancy status, week of gestation, number of children, obstetric history, family history of congenital anomalies or genetic diseases, as well as any relevant additional information elicited from the women.
The following recommendations were given in the counseling session: screening test advised, referral to genetic counseling, to chorionic villi sampling or amniocentesis. Additional data sources were obtained from the Genetics Institute and the Department of Obstetrics and Gynecology of the Soroka University Medical Center. Data were collected for each referral to the genetic screening test whether couple tested or stepwise, pursuit of genetic carrier tests and prenatal tests, and results of these tests.
Data were entered and analyzed using SPSS version 17. First, descriptive statistics of demographic data were produced using frequencies for nominal variables and means and standard deviations for numerical variables. In addition, 95% confidence intervals were calculated for rates of preforming various recommendations given by CGAS (blood tests, premarital, premarital, pre-conception or prenatal counseling). Univariate analyses include t-tests for comparison of means (or Mann-Whitney tests as appropriate) for numerical variables and chi-square tests for nominal variables. Significance level was 5%.
Since its initiation in 2005 until the end of the second year of its operation, 1433 couples or individuals were referred to the CGAS. Of these, 719 (50.1%) were referred by primary health providers according to a referral list of family names. Included in the referral list were extended families in which there were autosomal recessive genetic diseases for which we had available genetic carrier screening tests. The cost of these tests was covered by the "basket of health services" under the Israeli national health insurance law. Following an intake interview in the CGAS, where an Arabic speaking specially trained nurse had obtained detailed medical and family history, only 583 (81.0%) were found to meet the criteria for carrier status testing, i.e. being in consanguineous unions. Table 1 presents the socio demographic and obstetric characteristics of the tested population by consanguinity status.
|Characteristic||Consanguineous marriage||Non-consanguineous marriage||P-value|
|Age (years)||26,26.9 ± 6.4||26,26.9 ± 6.4||0.535|
|Single||14 (2.4)||6 (4.4)|
|Married||563 (97.6)||133 (95.6)|
|Number of children||2.9,2.6 ± 2.9||2,2.7 ± 2.8||0.54|
|Number of pregnancies||3,3.6 ± 3.3||3,3.8 ± 3.3||0.55|
|Abortions||0,0.3 ± 0.9||0,0.3 ± 1.1||0.67|
|Gestational age at visit (weeks)||15,12.5 ± 9.4||16,14.3 ± 10.7||0.02|
|Genetic problems in family||134 (23.0)||18 (13.2)||0.005|
|Problems in current pregnancy||97 (16.6)||11 (8.0)||0.006|
|Child death in (immediate)family||26 (4.6)||4 (2.9)||0.29|
|Polygamy||124 (21.3)||9 (6.5)||<.001|
Table 1: Differences between subjects in demographic variables by type of marriage (n=719).
Most of the study population were found to be in consanguineous marriages, the most prevalent form of which was first cousin marriages (58.3%). Subjects who are in consanguineous marriages were not differ from subjects who are in non-consanguineous marriages in most demographic characteristicss. However, subjects who are in consanguineous marriages had lower gestational age at visit in comparison with subjects who are in non-consanguineous marriages (12.5 ± 9.4 vs. 14.3 ± 10.7, p=.02). In addition, subjects who are in consanguineous marriages had higher rates of genetic problem in family (23.0% vs. 13.2%, p=.005), and problems in current pregnancy (16.6% vs. 8.0%, p=.006). Polygamy was more prevalent among the consanguineous couples than among the non related couples, estimated by the proportions of women who had described themselves as second wives (21.3% vs. 6.5%, p<.001) .
Of the 583 eligible individuals interviewed, 103 (17.7%) had their carrier status tested previously. Refusal rate was low (4.1%). Most tests were performed on women before marriage (60.0%), during family planning (65.1%), during Prenatal First (50.8%), second (60.2%) and third (55.4%) trimester. In about one third of the cases, both the husband and wife were tested (37.5%) (Table 2).
|Time of testing||N||Screening test advised and completed||Carrier status result|
|Total||480||456 (95.0)||79 (17.3)|
|Before marriage||10||Men tested||3 (30.0)||1 (10.0)|
|Women tested||6 (60.0)||1 (10.0)|
|Family planning||89||Men tested||1 (1.1)||1 (1.1)|
|Women tested||58 (65.1)||15 (16.8)|
|Couple tested||30 (33.7)||1 (1.1)|
|First trimester||112||Men tested||1 (0.9)||5 (4.5)|
|Women tested||57 (50.8)||10 (8.9)|
|Couple tested||49 (43.7)||5 (4.5)|
|Second trimester||186||Men tested||1 (0.5)||6 (3.2)|
|Women tested||112 (60.2)||13 (7.0)|
|Couple tested||64 (34.4)||0 (0.0)|
|Third trimester||83||Men tested||1 (1.2)||3 (3.6)|
|Women tested||46 (55.4)||8 (8.4)|
|Couple tested||28 (33.7)||2 (2.4)|
Table 2: Frequencies of visits in Genetic Advisory Service of persons eligible for screening, by timing of visit (pre-marriage, family planning and prenatal) (n=480).
Seventy-nine mutations have been detected, including 8 couples in which both husband and wife were found to be carriers and elected to have prenatal diagnostic tests. Following our genetic screening we found 20 genetic diseases that were highly prevalent in the Bedouin population (see Appendix 1). The most common were congenital insensitivity to pain and anhydrosis (CIPA), Hypoparathyroidism Retardation Dysmorphism syndrome Bartter syndrome, and Osteopetrosis. About 17.3% of the study population was detected to be carriers for the different genetic diseases prevalent in their families.
The compliance to prenatal diagnostic test, chorionic villi sampling (cvs) or amniocentesis was offered to the carrier's couples. Of the 6 couples who chose to undergo CVS, 4 fetuses were found to be affected and selective termination of pregnancy was done before 16 weeks of gestational age. One fetus was found to be normal and one fetus underwent spontaneous abortion following maternal infection. Twenty-three women have done amniocentesis. Of them, 4 fetuses were found to be affected. However, none of these 4 pregnancies was aborted (Table 3).
|Prenatal test||Referred||Performed||Results||Termination of Pregnancy|
|Chorionic villi sampling:||14||6 (42.9)|
|Affected||4 (66.6)||4 (100)|
|Maternal infection||1 (16.7)||Spontaneous abortion|
Table 3: Compliance with referrals to chorionic villi sampling and amniocentesis and decisions following positive test results.
The current study evaluated the utilization of premarital and prenatal genetic services in primary care clinics that performed screening tests for several autosomal recessive disorders frequent among Bedouin population in Israel. Our findings show that the majority of the Bedouin population demonstrates high acceptance of genetic screening tests and are highly compliant to termination of pregnancy after undergoing prenatal diagnostic CVS. The study confirmed that, similar to other Arab Muslim communities, the Bedouin population has a high proportion of first cousins consanguineous marriages (58.3%) compared to 58.7% in Karachi, Pakistan , 52% in Saudi Arabia , 50.5% in the capital city Sanaa in Yemen , 42.1% in Kuwait .
Results of current study have several important findings. First, this study confirmed findings from previous studies which showed higher compliance rates to genetic screening tests offered in public health clinics rather than in a hospital-based genetic counseling institute [16-18]. This is attributed to the implementation of multicultural and community-based genetic services which considers community norms such as the value of cousin marriage. Second, our study demonstrated high compliance to termination of affected pregnancies in women who underwent prenatal diagnosis by chorionic villi sampling, as such early testing enabled termination of pregnancy before the 16th week of gestation, an act permissible according to Muslim religious law (Fatywa) by the Ayattolahs. This finding has also been observed in other studies [13,19,20], displaying greater compliance in CVS than with amniocentesis. This result is particularly interesting due to Muslim law which states that elective abortion is forbidden beyond 120 days after the last menstrual period, even if the fetus is severely affected [20,21]. As opposed to this pattern, other studies demonstrated that the utilization of invasive prenatal examination, either amniocentesis or chorionic villus sampling, is lower for women who will not undergo abortion of an affected fetus because of religious restrictions . It is important to note that premarital screening in this study was low despite high consanguinity rate in this population. These results could be explained by that parents were not willing to encourage their daughters to be tested before marriage as they were afraid the result of positive carrier status would give cause for her fiancé to abandon her.
Results of current study draw a strong recommendation of intensive community education to increase public awareness and understanding of genetic carrier screening [23,24]. Sufficient pre- and post-test education and counselling have an important role in limiting the possible negative psychological effects of carrier screening .
Our study has several limitations. First, lower compliance rates of husbands lead to significant missing data regarding carrier status. Despite inviting the husband to be tested several times, low compliance makes it difficult to fully address genetic issues for couples. A possible reasons for husbands’ non-compliance is involvement of women in polygamous marriages simultaneously, so these additional wives are unable to collect information on their husbands. Additionally, men mostly work during clinic hours and are unavailable for testing. Another limitation is for the refusal people we don't have information regarding the refusal cause. The major strengths of our study included the close communication between the nurse, family physicians and population. The service was given in the village clinic so women do not have to travel for distance especially when there is traditional barrier in women travelling alone. Use of large population-based data, the tests provided free, simply and easily performed. all couples pre-marital and prenatal as well as couples who had already married. We did not exclude them even though other studies concentrated only on the premarital groups .
To the best of our knowledge, this is the first example of nursing implementation of a new screening strategy for prevention of autosomal recessive diseases in a primary public health service. We believe that integration of genetic services in public clinics will increase the compliance rate to premarital, prenatal genetic diagnosis. It remains to be seen whether the Bedouin setting would allow for changes in practices based on the premarital carrier matching results.
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