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Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders
Health Policy 97 (2010) 32–37
Contents lists available at ScienceDirect
Health Policy journal homepage: www.elsevier.com/locate/healthpol
Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders Jumana Y. Al-Aama ∗ Princess Al Jawhara Center of Excellence in Research of Hereditary Disorders and Faculty of Medicine, King Abdulaziz University, P.O. Box 11166, Jeddah 21453, Saudi Arabia
a r t i c l e
i n f o
a b s t r a c t
Keywords: Premarital Screening Attitudes Hemoglobinopathies
Background: A compulsory national premarital screening (PMS) program for hereditary hemoglobinopathies was established in the Kingdom of Saudi Arabia (KSA) in February 2004. Termination of pregnancy of affected fetuses is not widely acceptable. Many couples decide to get married regardless of the result. A trend towards coercive interference with this decision is emerging. Objectives: To examine the attitude of young educated individuals regarding the national PMS program and its implementation. Methods: Eight hundred university students (aged 18–29) filled in a self-administered structured questionnaire. Data were analyzed using the EPI Info Statistical Package version 6. A P-value <0.05 was considered significant. Results: Most students favor the PMS program but there were concerns regarding mandating the testing and interference with individual decision making. Significantly more women favored testing and coercive interference with the decision to marry. Conclusions: Further public education and wide spread genetic counseling prior to testing is essential for the success of the program. Screening singles on admission to university prior to any commitment may be preferable than screening immediately before the marriage certificate is issued. © 2010 Elsevier Ireland Ltd. All rights reserved.
1. Introduction
study was conducted in The Makkah Province, in the City of Jeddah, on the Western Coast of Saudi Arabia. Jeddah is a modern urban cosmopolitan city with a population of over 3.4 million people. It is the second largest city in the Kingdom and its commercial capital [10]. King Abdulaziz University is the major university in the city with approximately 40,000 students, many who come from neighboring cities and villages. Countries like Bahrain, Iran and Cyprus have introduced premarital screening for hemoglobinopathies and proved the effectiveness of such a program in decreasing the incidence of the diseases tested for [11–13]. A compulsory national premarital screening (PMS) program for SCD and thalasemia was established in KSA in February 2004. The result is reported as either compatible (when neither or only one partner is a carrier for SCD or beta-thalasemia) or incompatible when both members
The hereditary hemoglobinopathies, sickle cell disease (SCD) and thalassemia are the most common genetic disorders in the Kingdom of Saudi Arabia (KSA) and Gulf region [1]. The carrier rate for SCD exceeds 25% of the population in some Saudi cities [2–5]. The population of the region is characterized by large family size, advanced maternal and paternal ages and a high level of inbreeding with consanguinity rates in the range of 25–60% [2,1,6–8]. KSA is a large country with a population of 25 million people. It is divided into 5 main provinces [9]. This
∗ Tel.: +966 2 640 2000x11249/50 777 3834; fax: +966 2 640 2000x11249. E-mail address: [email protected]. 0168-8510/$ – see front matter © 2010 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.healthpol.2010.02.009
J.Y. Al-Aama / Health Policy 97 (2010) 32–37
are carriers for either or both disorders. The decision to marry is left to the couple [14,15]. Prenatal diagnosis and termination of pregnancy are not offered routinely to carrier couples even though a 1990 ruling allows termination of pregnancy in the first 120 days after conception if the fetus is shown beyond doubt to be affected with a severe disorder that is not amenable to treatment [15,1,16]. Termination of pregnancy of affected fetuses is not very popular in the region [17], although it may be starting to gain acceptability [19]. Many couples decide to go ahead with the marriage despite the result being incompatible [2]. This may be due to lack of understanding or ineffective genetic counseling. We noted a recent trend favoring coercive interference with marriage for the so-called “genetically incompatible” couples in the media with some influential figures advocating this. Evidence for this trend has also been supported by some recent studies [19]. The effectiveness of carrier screening programs depends largely on the knowledge and attitudes of the target population. In a previous study we looked at the degree of knowledge regarding genetic disorders and the national PMS program in an important subgroup of the population (young university undergraduate men and women in the city of Jeddah). We showed that despite a reasonable level of knowledge regarding genetic disorders in general, there was a lack of appropriate knowledge regarding the national PMS program [20]. In this current study, we aim to explore another important determinant of success which is the attitude of this target group toward implementation of testing and identify the reasons for ignoring the test results. Previous studies from KSA revealed an overall favorable attitude towards the National PMS program [21,22,15,16,19], but with variable reports regarding the level of knowledge. KSA is a vast country (population > 22 million of which Saudis make up approximately 17 million). It is divided into 5 major regions. These regions differ considerably in ethnic background in addition to some cultural and social differences that are expected to affect attitudes. The Western Region of the Kingdom is considered to harbor the most heterogeneous population among Saudis and has several ethnic and cultural characteristics. To our knowledge, this is the first study to be conducted in the Western Region of the Kingdom, and to look at specific factors (gender, area of upbringing and type of education) affecting the attitudes. Identifying these factors is very important for putting forth recommendations to increase the success rate of the program. 2. Methods A stratified random sampling was conducted among the students of King Abdulaziz University (KAU) in Jeddah, western Saudi Arabia (KSA), during January 2006. A representative sample for each college in the university was interviewed. The minimum acceptable sample size was selected according to the actual number of students in each college and was calculated using the EPI Info statistical package, version 6. Attitudes of the students’ sample were explored using a structured questionnaire designed by the authors. The questionnaires were distributed among the
33
Table 1 Demographic and social characteristics of University Students. Demographics Gender Men Women Age (years) 18–29
Percentage 50.0 50.0 100
Social status Single-never married Married Divorced
88.4 11.1 00.4
Origin Jeddah Southern region Makkah Taif Madinah
64.6 07.4 07.0 05.8 04.3
Personal history of hereditary disease College Arts and humanities Administration/economics Science Medicine/health sciences Dentistry
06.2 24.5 21.6 18.5 06.4 02.2
various colleges according to the percentage of students in each college (Table 1). A pretest pilot study was conducted on a sample of 54 students. Questions that seemed ambiguous were then modified. The students who answered the questionnaire in the pilot study were excluded from the final study. All regular undergraduate male and female students in the various colleges of KAU selected by random sampling and willing to participate – apart from those in the pilot group – were included in the study. A self-administered questionnaire was distributed to a sample of 800 students (of which 400 were men) who answered it under the direct supervision of the investigators. The questionnaires were distributed equally among males and females since each of them represents 50% of the university population. The questionnaires were distributed among the various colleges according to the percentage of students in each college. The questionnaire was divided into two main parts. Part one recorded the sociodemographic data and personal history of hereditary diseases and premarital screening among the students. The questions concerning attitudes were graded using the Likert scale which consists of 5 points. The 1st point is strongly agree and the 5th point is strongly disagree. Finally a space was left for further comments. Ethical approval was obtained from the local Research Ethics Committee. Participating students were guaranteed full confidentiality and privacy. The team members did not check the questionnaire in front of the students. After completing the questionnaire and returning it, the students were given educational pamphlets containing appropriate information regarding the national PMS program. After collection, the data was entered into the computer and analyzed using the SPSS PC software package. Chi-squared test was used to test significance on compar-
34
J.Y. Al-Aama / Health Policy 97 (2010) 32–37
Table 2 Respondents attitudes towards the National PMS program. Variables
The PMS is an essential service (%)
Total group Gender Women Men
98.7 97.9
Origin Jeddah Other than Jeddah
97.8 98.1
Family history Positive Negative
98.2 98.4
Medical background Medical Students Non-Medical Students
P-Value
95.9
100 98.1
The PMS is effective in reducing genetic disease (%)
P-Value
95 0.135 (NS)
0.135 (NS) 0.867 (NS)
0.140 (NS)
Marriage should be forbidden for those with incompatible results (%)
P-Value
63.2
98.5 97.5
0.563 (NS)
98.2 98.2
0.986 (NS)
82.4 72.3
0.002
77.0 76.0
0.730 (NS)
97.8 98.4
0.590 (NS)
76.0 78.0
99.1 98
0.449 (NS)
76.0 78.0
0.718 (NS) 0.748 (NS)
NS: not significant.
ing subgroups. A P-value was considered significant if it was less than 0.05. 3. Results All of the 800 participating students were Saudi. The age range was 18–29, and the mean was 21.4 years. The demographics of the study group are summarized in Table 1. Of the married students, 60.7% had personally carried out the PMS. While 6.2% of all the students reported personally having hereditary disease, 34.9% reported having hereditary disease in one or more of their family members. Among these, the reported disorders were SCD (1.1%), thalassemia (0.4%), glucose-6-phosphate dehydrogenase deficiency (0.4%) and hemophilia (0.2%). The remainder considered diabetes mellitus (18.8%), or allergy (4.6%) as hereditary disorders. Regarding the area of origin, 64.6% of those who received the questionnaire and responded were raised in Jeddah, 7.4% in the southern region of the Kingdom, 7% in Makkah, 5.8% in Taif and 4.3% in Madinah, the latter three being neighboring cities. Regarding attitudes towards PMS, 95.9% of the students believe that the PMS is essential (74.2% strongly agree and 21.7% agree), 1.7% that it is not essential and 2.5% do not know. On being asked whether they believed that the PMS limits the spread of hereditary disease, 95% of the students believe it does (63.2% strongly agree and 31.8% agree), 3.3% do not know and 1.8% does not believe it does. There was no significant difference on comparing gender, colleges, area of origin, or presence of a family history of genetic disease (Table 2). 84.8% of the study group believes that the PMS should be mandatory (i.e. as a legal requirement prior to issue of a marriage license), while 12.8% believed that it should be optional and 2.4% do not know. Gender was the only factor that was significantly different among those who believed that the PMS should be mandatory versus those who do not, with more women in favor than men (Table 3). This sex difference was persistent even among the medical students (Table 3). On being asked whether they believed that marriage should not be allowed among couples with a positive result, 37.1% of the
Table 3 Respondents believe PMS should be mandatory. Variables
Percent agree (%)
P-Value
Total group Gender Women Men
84.8 90.9 82.8
Origin Jeddah Other than Jeddah
87.3 86.1
0.619 (NS)
Family history Positive Negative
90.0 85.0
0.144 (NS)
Medical background Medical students Non-medical students
92.0 86.0
0.073 (NS)
Gender and medical background Women medical students Women non-medical students Men medical students Men non-medical students
98.3 89.6 85.1 82.4
0.001
0.035
0.649 (NS)
NS: not significant.
students strongly agreed, 26.1% agreed, 12.7% disagreed, 5.8% strongly disagreed and 18.3% answered “don’t know”. More women (82.4%) believed the marriage should not be allowed than men (72.3%) (P value = 0.002). No other factors including family history, medical background, or place of origin differed in a statistically significant manner (Table 2). Among those who disagree with preventing marriage between carries, the reasons given are shown in Table 4. Finally, Table 5 represents the expected action towards an incompatible test result. Table 4 Reasons to disapprove intervention with marriage. Reason
Percentage (%)
Fate Freedom of choice Love Others
33 21 19 27
J.Y. Al-Aama / Health Policy 97 (2010) 32–37 Table 5 What would you do if the PMS result was incompatible. Action
Percentage (%)
Would not marry any blood relative Would not get married at all Would marry the partner regardless No opinion
35.0 18.3 13.2 14.1
4. Discussion Genetic disorders cause a significant burden in Saudi Arabia, and hemoglobinopathies make up a substantial proportion of these genetic disorders [1,3]. Screening for the carrier status for SCD and B-thalassemia may help in decreasing the occurrence. The local attitudes towards the screening program are an important determinant of its success rate. In a previous study we asked participants about the specifics of the PMS including the interpretation of the tests results. When breaking the group down, medical students consistently had more knowledge than non-medical students and women more knowledge than men [20]. In this study we found that women also had stronger attitudes toward the implementation of testing with a significantly higher number of female respondents believing that the PMS should be mandatory and that marriage should not be allowed between two carriers of the same disorder. We speculate that this may reflect the belief that women in many parts of this society may bear more of the burden of a handicapped or chronically ill child. In addition, they have less opportunity to a “second chance” than men. It may be argued that this study was limited to university students rather than the general population. This was intended by the author to look at gender, knowledge and ethnic differences among a young and educated group. Another limitation may be that the study was conducted in one university of the Makkah region. However this is currently the largest university in the region and is made up of a heterogeneous population from various cities and districts. There was no significant difference in knowledge or attitude among those raised in Jeddah compared to those raised in the surrounding less industrialized cities, towns and villages. The role of education at university level may therefore override any cultural or familial differences. On exploring attitudes towards implementation, in general, attitudes were positive and favored the PMS. Almost all the students (95.9%) believed the PMS was essential and (95%) that it can limit the spread of disease. However, when being asked whether the PMS should be mandatory, although still the majority, a fewer number agreed (84.8%) raising concerns about individual autonomy. Other studies done in the Kingdom have shown even less acceptance rate of having the PMS as a mandatory requirement for marriage licensing [15,21]. Even less individuals in our study (63.2%) agreed to legal interference with issuing of a marriage license in case of positive results. There has been some controversy among local authorities and professionals in the field on whether or not there should be legal intervention to prevent marriage among
35
carriers. In this study, just above 60% of the sample agreed that marriage should be prevented. Although this represents the majority there is a significant proportion that does not agree including a subgroup that strongly disagrees. This group must be kept in the mind of policy makers. In a study conducted among male health science students in the South of the Kingdom, less than one fifth of the sample agreed to regulations against continuation of marriage in the case of the PMS results [21]. Rather than preventing the marriage forcefully which may cause significant social and individual harm, we would be better off looking at the reasons why couples often decide to marry despite both members being carriers of the same disorder. One very important factor we believe is the timing of the test. The PMS is usually done as a formality and as a final step in the preparation for marriage. An unexpected result may therefore need to be ignored by the couple or their families for various cultural, social, emotional and financial reasons. This however can be prevented. A well established premarital genetic testing program, The Dor Yeshorim initiative founded in the 1980s had proven its success [23]. In this program, individuals are offered testing in their teenage years for certain genetic disorders. Mass tests are usually carried out in educational institutes following public discussion and education. This program carries the additional advantage that it does not review individual results. Instead, young individuals are tested early in adulthood, the results are not released but the individuals are given confidential identification numbers. Later when they decide to marry, potential spouses are matched for genetic compatibility but still no specific information regarding individual carrier status is given. Thus the compatibility can be known prior to engagement yet avoiding the burden of genotype knowledge in the absence of practical implications. Such a model is ideal for societies where arranged marriage is a common practice and termination of pregnancy is highly undesirable. In the absence of such a system, we suggest that genetic counseling followed by testing be done in group sessions in the early college years or on leaving school with parental consent for those under 18 years of age. It would be essential however to have counseling appropriate to each individual’s age and understanding so as to prevent unwanted complications of genetic testing such as anxiety, social stigmatization and discrimination. Genetic counseling can be followed by testing if the individual decides to do so. PMS would remain mandatory prior to marriage for those who haven’t done it at the early stage. One limitation is the scarcity of trained counselors. This could be partially overcome by training courses specific to this issue, including issuing certificates on completion of training and simulated examination. Only individuals certified in counseling for PMS would then be able to do so. Prior to interference with marriage decisions, we need to look back and reflect on our practice so far with continuous audit and review. Also, improving the population knowledge will improve their understanding and cooperation and can decrease the number of marriages among carriers without resorting to legal restrictions. Coercive marriage programs trigger
36
J.Y. Al-Aama / Health Policy 97 (2010) 32–37
many ethical concerns on the grounds of human rights, control, oppression and eugenics [24]. They may lead to public rebellion or seeking marriage licensing abroad [25]. On the contrary, voluntary programs have led to a significant decline in the number of children born with certain disorders. One example is the drop of incidence of TaySachs disease in the Jewish communities of the USA [26]. Public Education regarding these genetic disorders and the implication of testing is essential for the success of the premarital program [10,21]. In addition to formal counseling at the time of testing, mass education especially at high school and university levels can play a major role in increasing the level of knowledge regarding PMS. It has also been suggested that education about PMS be included in the university curriculum [22]. Opportunistic counseling done by health professionals during general check-ups or other physician office visits may help in addition to educational pamphlets, targeted TV programs and advertisement. Perhaps education must start with those in the medical profession especially those in certain specialties such as family medicine or obstetrics and gynecology so they can play their role in the education process and be equipped to answer related questions.
5. Conclusions The majority of young adults favor the implementation of the National PMS program. This positive attitude is a strength for the success of the program. Recommendations to increase the success of this attempt are:
1. Changing the timing of the test to the early college/late school years rather than immediately prior to marriage. 2. Mandating genetic counseling by trained professionals prior to each test. 3. Make up for scarcity of genetic counseling professionals by: A. Group counseling sessions. B. Certified training courses in genetic counseling specific for PMS. 4. Widespread public education. In addition to the existing campaign stress must be put on: A. Education in high schools and universities. B. Opportunistic counseling by various health professionals who encounter prospective spouses. C. Education of related professionals such as family physicians and obstetricians regarding the National PMS program.
The success of PMS for hereditary hematologic disorders may lead to the inclusion of further prevalent disorders. Finally, the role of repeated audit with quality assurance guidelines cannot be overestimated. Studies similar to this one can help understand the deficiencies and take opportunity of the available strengths such as many students’ positive attitude and commitment towards the PMS.
Acknowledgements The author would like to thank the students who participated in this study and Ms. Khadija Bakur, Alaa Idrees and Ma. Krisette Lopez for their essential clerical assistance.
References [1] Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. British Medical Journal 2006;333:831–4. [2] Alhamdan NA, Almazrou YY, Alswaidi FM, Choudhry AJ. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genetic Medicine 2007;9(June (6)):372–7. [3] Nasserullah Z, Al Jame A, Abu Srair H, Al Qatari G, Al Naim S, Al Aqib A, et al. Neonatal Screening for sickle cell disease, glucose-6phospate dehydrogenase deficiency and Thalassemia in Qatif and Al Hasa. Annals of Saudi Medicine 1998;18:289–92. [4] El-Tayeb EN, Yaqoob M, Abdur-Rahim K, Gustavson KH. Prevalence of beta-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia. Genet Counselling 2008;19(2): 211–8. [5] Al-Suliman A. Prevalence of beta-thalassemia trait in premarital screening in Al-Hassa, Saudi Arabia. Annals of Saudi Medicine 2006;26(January–February (1)):14–6. [6] Deeb ME, Sayegh LG. Population dimensions in the Arab world. In: Teebi A, Farag T, editors. Genetic disorders among Arab populations. Oxford monographs on medical genetics No. 30. New York: Oxford University Press; 1997. p. 29–44. [7] Jurdi R, Saxena PC. The prevalence and correlates of consanguineous marriages in Yemen: similarities and contrasts with other Arab countries. Journal of Biosocial Science 2003;35:1–13. [8] El-Mouzan MI, Al-Solloum AA, Al-Herbish AS, Qurachi MM, AL-Omar AA. Regional variations in the prevalence of consanguinity in Saudi Arabia. Saudi Medical Journal 2007;28:1881–4. [9] UNFPA. State of World Population 2006. Available at: http://www.unfpa.org/swp/2006/english/introduction.html. Last accessed: 24 October; 2008. [10] Central Intelligence Agency. Saudi Arabia. Saudi Arabia (KSA): the 2008 world fact book. Central Intelligence Agency; 2008. [11] Al-Arrayed S. Campaign to control genetic blood diseases in Bahrain. Community Genetics 2005;8:52–5. [12] Samavat A, Modell B. Iranian national thalasemia screening programme. British Medical Journal 2004;329:1134–7. [13] Bozkurt G. Results from the north Cyprus thalassemia prevention program. Hemoglobin 2007;31:257–64. [14] Alswaidi FM, O’Brien SJ. Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success. Journal of Medical Screening 2009;16(1):22–8. [15] El-Hazmi M. Pre-marital examination as a method of prevention from blood genetic disorders Community Views. Saudi Medical Journal 2006;27(9):1291–5. [16] El-Hazmi M. The natural history and the national pre-marital screening program in Saudi Arabia. Saudi Medical Journal 2004;25:1549–54. [17] Babay ZA. Attitudes of a high-risk group of pregnant Saudi Arabian women to prenatal screening for chromosomal anomalies. East Mediterranean Health Journal 2004;10(4/5):522–7. [19] Al-Sulaiman A, Suliman A, Al-Mishari M, Al-Sawadi A, Owaidah T. Knowledge and attitude toward the hemoglobinopathies premarital screening program in Saudi Arabia: population-based survey. Hemoglobin 2008;6:531–8. [20] Al-Aama J, Al-Nabulsi B, Alyousef M, Asiri N, Al-Blewi S. Knowledge regarding the national premarital screening program among university stucents in western Saudi Arabia. Saudi Medical Journal 2008;11:1649–53. [21] Al-Khaldi Y, Al-Sharif A, Sadiq A, Ziady H. Attitudes to premarital counseling among students of Abha Health Sciences College. Saudi Medical Journal 2002;23(8):986–90. [22] Alam A. Perception of female students of King Saud University towards premarital screening. Journal of Family and Community Medicine 2006;13:83–8. [23] Prainsack B, Siegal G. The rise of genetic couplehood? A comparative view of premarital genetic testing. Biosocieties 2006;1: 17–36.
J.Y. Al-Aama / Health Policy 97 (2010) 32–37 [24] Hesketh T. Getting married in China: pass the medical first. British Medical Journal 2003;326:1. [25] Turnock BJ, Kelly CJ. Mandatory premarital testing for human immunodeficiency virus. The Illinois experience. JAMA 1989;16(23):3415–8, 261.
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[26] Mitchell JJ, Capua A, Clow C, Scriver CR. Twenty-year outcome analysis of genetic screening programs for Tay- Sachs and beta-thalassemia disease carriers in high schools. American Journal of Human Genetics 1996;59(October (4)): 793–8.
Contents lists available at ScienceDirect
Health Policy journal homepage: www.elsevier.com/locate/healthpol
Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders Jumana Y. Al-Aama ∗ Princess Al Jawhara Center of Excellence in Research of Hereditary Disorders and Faculty of Medicine, King Abdulaziz University, P.O. Box 11166, Jeddah 21453, Saudi Arabia
a r t i c l e
i n f o
a b s t r a c t
Keywords: Premarital Screening Attitudes Hemoglobinopathies
Background: A compulsory national premarital screening (PMS) program for hereditary hemoglobinopathies was established in the Kingdom of Saudi Arabia (KSA) in February 2004. Termination of pregnancy of affected fetuses is not widely acceptable. Many couples decide to get married regardless of the result. A trend towards coercive interference with this decision is emerging. Objectives: To examine the attitude of young educated individuals regarding the national PMS program and its implementation. Methods: Eight hundred university students (aged 18–29) filled in a self-administered structured questionnaire. Data were analyzed using the EPI Info Statistical Package version 6. A P-value <0.05 was considered significant. Results: Most students favor the PMS program but there were concerns regarding mandating the testing and interference with individual decision making. Significantly more women favored testing and coercive interference with the decision to marry. Conclusions: Further public education and wide spread genetic counseling prior to testing is essential for the success of the program. Screening singles on admission to university prior to any commitment may be preferable than screening immediately before the marriage certificate is issued. © 2010 Elsevier Ireland Ltd. All rights reserved.
1. Introduction
study was conducted in The Makkah Province, in the City of Jeddah, on the Western Coast of Saudi Arabia. Jeddah is a modern urban cosmopolitan city with a population of over 3.4 million people. It is the second largest city in the Kingdom and its commercial capital [10]. King Abdulaziz University is the major university in the city with approximately 40,000 students, many who come from neighboring cities and villages. Countries like Bahrain, Iran and Cyprus have introduced premarital screening for hemoglobinopathies and proved the effectiveness of such a program in decreasing the incidence of the diseases tested for [11–13]. A compulsory national premarital screening (PMS) program for SCD and thalasemia was established in KSA in February 2004. The result is reported as either compatible (when neither or only one partner is a carrier for SCD or beta-thalasemia) or incompatible when both members
The hereditary hemoglobinopathies, sickle cell disease (SCD) and thalassemia are the most common genetic disorders in the Kingdom of Saudi Arabia (KSA) and Gulf region [1]. The carrier rate for SCD exceeds 25% of the population in some Saudi cities [2–5]. The population of the region is characterized by large family size, advanced maternal and paternal ages and a high level of inbreeding with consanguinity rates in the range of 25–60% [2,1,6–8]. KSA is a large country with a population of 25 million people. It is divided into 5 main provinces [9]. This
∗ Tel.: +966 2 640 2000x11249/50 777 3834; fax: +966 2 640 2000x11249. E-mail address: [email protected]. 0168-8510/$ – see front matter © 2010 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.healthpol.2010.02.009
J.Y. Al-Aama / Health Policy 97 (2010) 32–37
are carriers for either or both disorders. The decision to marry is left to the couple [14,15]. Prenatal diagnosis and termination of pregnancy are not offered routinely to carrier couples even though a 1990 ruling allows termination of pregnancy in the first 120 days after conception if the fetus is shown beyond doubt to be affected with a severe disorder that is not amenable to treatment [15,1,16]. Termination of pregnancy of affected fetuses is not very popular in the region [17], although it may be starting to gain acceptability [19]. Many couples decide to go ahead with the marriage despite the result being incompatible [2]. This may be due to lack of understanding or ineffective genetic counseling. We noted a recent trend favoring coercive interference with marriage for the so-called “genetically incompatible” couples in the media with some influential figures advocating this. Evidence for this trend has also been supported by some recent studies [19]. The effectiveness of carrier screening programs depends largely on the knowledge and attitudes of the target population. In a previous study we looked at the degree of knowledge regarding genetic disorders and the national PMS program in an important subgroup of the population (young university undergraduate men and women in the city of Jeddah). We showed that despite a reasonable level of knowledge regarding genetic disorders in general, there was a lack of appropriate knowledge regarding the national PMS program [20]. In this current study, we aim to explore another important determinant of success which is the attitude of this target group toward implementation of testing and identify the reasons for ignoring the test results. Previous studies from KSA revealed an overall favorable attitude towards the National PMS program [21,22,15,16,19], but with variable reports regarding the level of knowledge. KSA is a vast country (population > 22 million of which Saudis make up approximately 17 million). It is divided into 5 major regions. These regions differ considerably in ethnic background in addition to some cultural and social differences that are expected to affect attitudes. The Western Region of the Kingdom is considered to harbor the most heterogeneous population among Saudis and has several ethnic and cultural characteristics. To our knowledge, this is the first study to be conducted in the Western Region of the Kingdom, and to look at specific factors (gender, area of upbringing and type of education) affecting the attitudes. Identifying these factors is very important for putting forth recommendations to increase the success rate of the program. 2. Methods A stratified random sampling was conducted among the students of King Abdulaziz University (KAU) in Jeddah, western Saudi Arabia (KSA), during January 2006. A representative sample for each college in the university was interviewed. The minimum acceptable sample size was selected according to the actual number of students in each college and was calculated using the EPI Info statistical package, version 6. Attitudes of the students’ sample were explored using a structured questionnaire designed by the authors. The questionnaires were distributed among the
33
Table 1 Demographic and social characteristics of University Students. Demographics Gender Men Women Age (years) 18–29
Percentage 50.0 50.0 100
Social status Single-never married Married Divorced
88.4 11.1 00.4
Origin Jeddah Southern region Makkah Taif Madinah
64.6 07.4 07.0 05.8 04.3
Personal history of hereditary disease College Arts and humanities Administration/economics Science Medicine/health sciences Dentistry
06.2 24.5 21.6 18.5 06.4 02.2
various colleges according to the percentage of students in each college (Table 1). A pretest pilot study was conducted on a sample of 54 students. Questions that seemed ambiguous were then modified. The students who answered the questionnaire in the pilot study were excluded from the final study. All regular undergraduate male and female students in the various colleges of KAU selected by random sampling and willing to participate – apart from those in the pilot group – were included in the study. A self-administered questionnaire was distributed to a sample of 800 students (of which 400 were men) who answered it under the direct supervision of the investigators. The questionnaires were distributed equally among males and females since each of them represents 50% of the university population. The questionnaires were distributed among the various colleges according to the percentage of students in each college. The questionnaire was divided into two main parts. Part one recorded the sociodemographic data and personal history of hereditary diseases and premarital screening among the students. The questions concerning attitudes were graded using the Likert scale which consists of 5 points. The 1st point is strongly agree and the 5th point is strongly disagree. Finally a space was left for further comments. Ethical approval was obtained from the local Research Ethics Committee. Participating students were guaranteed full confidentiality and privacy. The team members did not check the questionnaire in front of the students. After completing the questionnaire and returning it, the students were given educational pamphlets containing appropriate information regarding the national PMS program. After collection, the data was entered into the computer and analyzed using the SPSS PC software package. Chi-squared test was used to test significance on compar-
34
J.Y. Al-Aama / Health Policy 97 (2010) 32–37
Table 2 Respondents attitudes towards the National PMS program. Variables
The PMS is an essential service (%)
Total group Gender Women Men
98.7 97.9
Origin Jeddah Other than Jeddah
97.8 98.1
Family history Positive Negative
98.2 98.4
Medical background Medical Students Non-Medical Students
P-Value
95.9
100 98.1
The PMS is effective in reducing genetic disease (%)
P-Value
95 0.135 (NS)
0.135 (NS) 0.867 (NS)
0.140 (NS)
Marriage should be forbidden for those with incompatible results (%)
P-Value
63.2
98.5 97.5
0.563 (NS)
98.2 98.2
0.986 (NS)
82.4 72.3
0.002
77.0 76.0
0.730 (NS)
97.8 98.4
0.590 (NS)
76.0 78.0
99.1 98
0.449 (NS)
76.0 78.0
0.718 (NS) 0.748 (NS)
NS: not significant.
ing subgroups. A P-value was considered significant if it was less than 0.05. 3. Results All of the 800 participating students were Saudi. The age range was 18–29, and the mean was 21.4 years. The demographics of the study group are summarized in Table 1. Of the married students, 60.7% had personally carried out the PMS. While 6.2% of all the students reported personally having hereditary disease, 34.9% reported having hereditary disease in one or more of their family members. Among these, the reported disorders were SCD (1.1%), thalassemia (0.4%), glucose-6-phosphate dehydrogenase deficiency (0.4%) and hemophilia (0.2%). The remainder considered diabetes mellitus (18.8%), or allergy (4.6%) as hereditary disorders. Regarding the area of origin, 64.6% of those who received the questionnaire and responded were raised in Jeddah, 7.4% in the southern region of the Kingdom, 7% in Makkah, 5.8% in Taif and 4.3% in Madinah, the latter three being neighboring cities. Regarding attitudes towards PMS, 95.9% of the students believe that the PMS is essential (74.2% strongly agree and 21.7% agree), 1.7% that it is not essential and 2.5% do not know. On being asked whether they believed that the PMS limits the spread of hereditary disease, 95% of the students believe it does (63.2% strongly agree and 31.8% agree), 3.3% do not know and 1.8% does not believe it does. There was no significant difference on comparing gender, colleges, area of origin, or presence of a family history of genetic disease (Table 2). 84.8% of the study group believes that the PMS should be mandatory (i.e. as a legal requirement prior to issue of a marriage license), while 12.8% believed that it should be optional and 2.4% do not know. Gender was the only factor that was significantly different among those who believed that the PMS should be mandatory versus those who do not, with more women in favor than men (Table 3). This sex difference was persistent even among the medical students (Table 3). On being asked whether they believed that marriage should not be allowed among couples with a positive result, 37.1% of the
Table 3 Respondents believe PMS should be mandatory. Variables
Percent agree (%)
P-Value
Total group Gender Women Men
84.8 90.9 82.8
Origin Jeddah Other than Jeddah
87.3 86.1
0.619 (NS)
Family history Positive Negative
90.0 85.0
0.144 (NS)
Medical background Medical students Non-medical students
92.0 86.0
0.073 (NS)
Gender and medical background Women medical students Women non-medical students Men medical students Men non-medical students
98.3 89.6 85.1 82.4
0.001
0.035
0.649 (NS)
NS: not significant.
students strongly agreed, 26.1% agreed, 12.7% disagreed, 5.8% strongly disagreed and 18.3% answered “don’t know”. More women (82.4%) believed the marriage should not be allowed than men (72.3%) (P value = 0.002). No other factors including family history, medical background, or place of origin differed in a statistically significant manner (Table 2). Among those who disagree with preventing marriage between carries, the reasons given are shown in Table 4. Finally, Table 5 represents the expected action towards an incompatible test result. Table 4 Reasons to disapprove intervention with marriage. Reason
Percentage (%)
Fate Freedom of choice Love Others
33 21 19 27
J.Y. Al-Aama / Health Policy 97 (2010) 32–37 Table 5 What would you do if the PMS result was incompatible. Action
Percentage (%)
Would not marry any blood relative Would not get married at all Would marry the partner regardless No opinion
35.0 18.3 13.2 14.1
4. Discussion Genetic disorders cause a significant burden in Saudi Arabia, and hemoglobinopathies make up a substantial proportion of these genetic disorders [1,3]. Screening for the carrier status for SCD and B-thalassemia may help in decreasing the occurrence. The local attitudes towards the screening program are an important determinant of its success rate. In a previous study we asked participants about the specifics of the PMS including the interpretation of the tests results. When breaking the group down, medical students consistently had more knowledge than non-medical students and women more knowledge than men [20]. In this study we found that women also had stronger attitudes toward the implementation of testing with a significantly higher number of female respondents believing that the PMS should be mandatory and that marriage should not be allowed between two carriers of the same disorder. We speculate that this may reflect the belief that women in many parts of this society may bear more of the burden of a handicapped or chronically ill child. In addition, they have less opportunity to a “second chance” than men. It may be argued that this study was limited to university students rather than the general population. This was intended by the author to look at gender, knowledge and ethnic differences among a young and educated group. Another limitation may be that the study was conducted in one university of the Makkah region. However this is currently the largest university in the region and is made up of a heterogeneous population from various cities and districts. There was no significant difference in knowledge or attitude among those raised in Jeddah compared to those raised in the surrounding less industrialized cities, towns and villages. The role of education at university level may therefore override any cultural or familial differences. On exploring attitudes towards implementation, in general, attitudes were positive and favored the PMS. Almost all the students (95.9%) believed the PMS was essential and (95%) that it can limit the spread of disease. However, when being asked whether the PMS should be mandatory, although still the majority, a fewer number agreed (84.8%) raising concerns about individual autonomy. Other studies done in the Kingdom have shown even less acceptance rate of having the PMS as a mandatory requirement for marriage licensing [15,21]. Even less individuals in our study (63.2%) agreed to legal interference with issuing of a marriage license in case of positive results. There has been some controversy among local authorities and professionals in the field on whether or not there should be legal intervention to prevent marriage among
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carriers. In this study, just above 60% of the sample agreed that marriage should be prevented. Although this represents the majority there is a significant proportion that does not agree including a subgroup that strongly disagrees. This group must be kept in the mind of policy makers. In a study conducted among male health science students in the South of the Kingdom, less than one fifth of the sample agreed to regulations against continuation of marriage in the case of the PMS results [21]. Rather than preventing the marriage forcefully which may cause significant social and individual harm, we would be better off looking at the reasons why couples often decide to marry despite both members being carriers of the same disorder. One very important factor we believe is the timing of the test. The PMS is usually done as a formality and as a final step in the preparation for marriage. An unexpected result may therefore need to be ignored by the couple or their families for various cultural, social, emotional and financial reasons. This however can be prevented. A well established premarital genetic testing program, The Dor Yeshorim initiative founded in the 1980s had proven its success [23]. In this program, individuals are offered testing in their teenage years for certain genetic disorders. Mass tests are usually carried out in educational institutes following public discussion and education. This program carries the additional advantage that it does not review individual results. Instead, young individuals are tested early in adulthood, the results are not released but the individuals are given confidential identification numbers. Later when they decide to marry, potential spouses are matched for genetic compatibility but still no specific information regarding individual carrier status is given. Thus the compatibility can be known prior to engagement yet avoiding the burden of genotype knowledge in the absence of practical implications. Such a model is ideal for societies where arranged marriage is a common practice and termination of pregnancy is highly undesirable. In the absence of such a system, we suggest that genetic counseling followed by testing be done in group sessions in the early college years or on leaving school with parental consent for those under 18 years of age. It would be essential however to have counseling appropriate to each individual’s age and understanding so as to prevent unwanted complications of genetic testing such as anxiety, social stigmatization and discrimination. Genetic counseling can be followed by testing if the individual decides to do so. PMS would remain mandatory prior to marriage for those who haven’t done it at the early stage. One limitation is the scarcity of trained counselors. This could be partially overcome by training courses specific to this issue, including issuing certificates on completion of training and simulated examination. Only individuals certified in counseling for PMS would then be able to do so. Prior to interference with marriage decisions, we need to look back and reflect on our practice so far with continuous audit and review. Also, improving the population knowledge will improve their understanding and cooperation and can decrease the number of marriages among carriers without resorting to legal restrictions. Coercive marriage programs trigger
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J.Y. Al-Aama / Health Policy 97 (2010) 32–37
many ethical concerns on the grounds of human rights, control, oppression and eugenics [24]. They may lead to public rebellion or seeking marriage licensing abroad [25]. On the contrary, voluntary programs have led to a significant decline in the number of children born with certain disorders. One example is the drop of incidence of TaySachs disease in the Jewish communities of the USA [26]. Public Education regarding these genetic disorders and the implication of testing is essential for the success of the premarital program [10,21]. In addition to formal counseling at the time of testing, mass education especially at high school and university levels can play a major role in increasing the level of knowledge regarding PMS. It has also been suggested that education about PMS be included in the university curriculum [22]. Opportunistic counseling done by health professionals during general check-ups or other physician office visits may help in addition to educational pamphlets, targeted TV programs and advertisement. Perhaps education must start with those in the medical profession especially those in certain specialties such as family medicine or obstetrics and gynecology so they can play their role in the education process and be equipped to answer related questions.
5. Conclusions The majority of young adults favor the implementation of the National PMS program. This positive attitude is a strength for the success of the program. Recommendations to increase the success of this attempt are:
1. Changing the timing of the test to the early college/late school years rather than immediately prior to marriage. 2. Mandating genetic counseling by trained professionals prior to each test. 3. Make up for scarcity of genetic counseling professionals by: A. Group counseling sessions. B. Certified training courses in genetic counseling specific for PMS. 4. Widespread public education. In addition to the existing campaign stress must be put on: A. Education in high schools and universities. B. Opportunistic counseling by various health professionals who encounter prospective spouses. C. Education of related professionals such as family physicians and obstetricians regarding the National PMS program.
The success of PMS for hereditary hematologic disorders may lead to the inclusion of further prevalent disorders. Finally, the role of repeated audit with quality assurance guidelines cannot be overestimated. Studies similar to this one can help understand the deficiencies and take opportunity of the available strengths such as many students’ positive attitude and commitment towards the PMS.
Acknowledgements The author would like to thank the students who participated in this study and Ms. Khadija Bakur, Alaa Idrees and Ma. Krisette Lopez for their essential clerical assistance.
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