Ethics of Genetic Testing and Research in the Arab Region in Relation to Religious and Cultural Values Maryam A.G.Dashti, Ph.D
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1 Ethics of Genetic Testing and Research in the Arab Region in Relation to Religious and Cultural Values Maryam A.G.Dashti, Ph.D Al Jawhara Hospital for Fertility and Genetic Diagnosis Department of Molecular Medicine, College of Medicine and Medical Sciences Arabian Gulf University Bahrain
2 The objectives: To discuss the types of genetic diseases in the Arab community with reference to those affecting women and women s health To enumerate the types of screening and detection methods of genetic diseases To review the bylaws regulating genetic testing before and after marriage To discuss the level of awareness in Bahrain in relation to incidence of consanguineous marriages To present statistics of PGD turnover in relation to consanguineous marriages To present the results of the questionnaire study of women who undergone pre- marital testing
3 Community General Genetic Services Approaches used for management and prevention Referral for testing and screening programs Genetic centres and new technologies Commitment of policymakers Education of the public Integration into primary healthcare Birth defects registry Strengthening human resources. Introducing and maintaining ethical principles and legal issues in relation to religious terms. Realistic approach
4 Genetic Disorders in the Arab World Chromosomal disorders e.g Down syndrome Multifactorial birth defects e.g. congenital heart disease Monogenic disorders (autosomal dominant) e.g. Marfan syndrome Monogenic disorders (X-linked) e.g. G6PD deficiency Monogenic disorders (autosomal recessive) e.g classical homocystinuria, Hemoglobinopathies
5
6 Types of Genetic Screening in the Arab world Premarital Prenatal Postnatal Pre-implantation
7 Genetic centres and genetic services in the Arab world The Centre for Arab Genomic Studies (CAGS) -UAE Catalogue of Transmission Genetics in Arabs (CTGA) database for genetic disorders in Arabs. Genetics department, Sultan Qaboos University-Oman Kuwait Medical Genetic Centre "The Saudi Human Genome Program support 15 genetic centres in KSA Centre of Excellence in Genomic medicine research, the King Abdulaziz University, Jeddah- KSA Department of Genetics, Research centre, King Faisal Specialist Hospital, Ryadh-KSA The Shafallah Medical Genetics Centre- Qatar Hamad Medical Corporation Genetic and metabolic diseases centre, AlQuds University Medical School- Palestine Aljawhara centre for molecular medicine, genetics and inherited diseases, Bahrain
8 Why are genetic disorders common in the Arab world? High consanguinity rates 25-60% of all marriages are consanguineous. The high prevalence of haemoglobinopathies, glucose-6- phosphate dehydrogenase deficiency, autosomal recessive syndromes, and several metabolic disorders. The rate of children with Down's syndrome in some Arab countries exceeds the per 1000 typical for industrialised countries. Inadequate health care before and during pregnancy, particularly in low income countries. Services for the prevention and control of genetic disorders are restricted by certain cultural, legal, and religious limitations. Al-Gazali et al, 2006
9 Schematic representation of consanguineous marriage rates worldwide Tadmouri et al, 2009
10 Consanguinity rates in Arab populations Country Algeria Bahrain Egypt Egypt (nubia) Overall consanguinity Iraq Jordan Kuwait Lebanon Libya 48.4 Mauritania 47.2 Country Morocco Oman 56.3 Overall consanguinity Palestine Qatar 54 KSA Sudan Tunisia UAE Yemen Tadmouri et al. Reproductive Health :17
11 Regulation of Genetic Testing Ethics and Law in Biomedicine and Genetics: An Overview of National Regulations in The Arab States, UNESCO, 2011 Research, Forensic medicine, Screening (pre- marital, pre- natal, pre- implantation) Draft guidelines, Recommendations, Draft policies in relation to Islamic Sherea Counselling and confidentiality of data are mandatory by General consensus Services are not adequately provided or organized Data banks are nationalized except for Catalogue of Transmission Genetics in Arabs (CTGA), UAE
12 Types of genetic testing Chromosomal - Detection of chromosomal numerical and structural abnormalities - Prenatal, Postnatal, Child, Adult - Cancer studies DNA testing for paternity and rape - Islamic Sharia and adultery - Islamic Sharia and rape - Social discrimination towards women - Rights of women to abortion in incidents of rape - Social stigmatisation of women subjected to rape - Social attitude to gender of adulterer - Social attitude to children born through adultery or rape
13 Case presentations Case 1: Infertility couple with recurrent miscarriage due to abnormal pregnancies. Diagnosis: Husband with chromosome 8: 10 balanced translocation. Husband attitude: Denial and rejection the idea of genetic testing prior or during pregnancy by husband. Impact on wife: stress, blamed by husband family and deprivation of treatment Case 2: Couple with severe male infertility due to poor semen and high rate of genetically abnormal sperm ( DNA, chromosomes), have been through 7 IVF failed trials Impact: husband chose to have a second marriage with a younger woman, Wife Disparity Case 3: A couple where a young girl with micro-deletion in chromosome 9 presenting multiple physical abnormalities arranged to marry cousin with similar condition (family arranged) Impact: Lower economical status, Infertility, Disappointment, Disparity
14 Ethical, Social and Economical Evaluation of Genetic Screening Jan Sep A prospective randomized study 72 couples Counselled Signed informed consent Filled questionnaire
15 Pre-marital Post- marital Pre-implantation Indication Impact Blood diseases carrier- Male none none Blood diseases carrier- Female Blood diseases affected- Male Blood diseases affected- Female Blood diseases both carriers none none none none none none none Cooperative Metabolic gene defect both carriers Metabolic disease in one Cooperative Other genetic defects Infertility Cooperative Chrom. Abn. Male Infertility Cooperative female Chrom. Abn. Female Infertility Semi- cooperative Chrom. Abn. both Infertility Cooperative
16 PGD cases performed during 2012 and 2013 PGD for blood diseases PGD for SS PGD for others Month Total 15/ 7 20/11 17/ 1 20/ 4 17/ 7 20/ 10 SS= Sex Selection, Others= chromosomal abnormalities Number of consanguineous marriages indicated in red
17
18 Questionnaire 1 result Females males yes no yes no Is your marriage decided by your family? Are you related (1 st cousins)? Do you have support from your family? Were you counselled after genetic analysis? Were you satisfied about information provided? Do you need another counselling session? Was your family involved in the counselling? Is your family involved in decision making? Well you chose to go against your family well? Are you welling to go ahead with marriage despite the negative impact on your future life? * 41* * 14* 25* 29* * Discrepancy in numbers indicate individuals who abstained giving answers
19 Questionnaire 2 result Females males Are you more aware of your genetic situation? yes no yes no Did your commitment change after counselling? By knowing the consequences of your marriage, well you insist on having children? Well your family accept, if you choose not to have children without PGD? Do you understand the cons and pros of PGD? Do you have adequate funds for PGD? Do you have medical insurance? Are you in favour of governmental support for PGD?
20 Questionnaire 3 result: applicable to 19 Females who declined Are your chances for marriage affected by your genetic analysis testing result? Answers To certain extent 6 Have to be more selective if I want a healthy family No of patients 10 Cant afford the expenses of PGD 10 No not really 3 Have no objection to my destiny all
21 Conclusion Males had more freedom of choice for their final marriage decision. Premarital genetic testing is a powerful tool in minimizing genetically unhealthy marriages including consanguinity, where only 22% of our patients were 1 st cousins. Males had higher support from their families (60%) compared to their counterpart females (36 %). All patients were counselled after premarital genetic testing, yet about 70% were not satisfied with the information given to them and required another through counselling. Family involvement during counselling and for decision making was more pronounced in the females.
22 There was obvious uncertainty in patients final decision after the first counselling due to lack of adequate information regarding their situation. More than 90% of all couples showed satisfaction after the second counselling session. Over 40% of both males and females changed their commitments for marriage after the second counselling session, yet all patients insisted to form a family with healthier conditions. Couples with stronger commitments due to social, familial or emotional ties relied on PGD for establishment of their future families. Almost all couples showed a good understanding to the cons and pros of PGD, yet asked for a financial support from public health, including the ones who were more well off or who have medical insurance.
23 Recommendations Genetic counselling must be performed by professional counsellors and must have a prime role in public education and awareness. Females must be supported by education of the community and family. A network of centres for genetic molecular diagnostics to be Establishment in the GCC. A more safe, secure and confidential system is required to deal with patient results. Financial support from public health care to be provided for Pre implantation genetic diagnosis.
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