The Dilemma of Premarital Genetic Screening and Woman's Social Right

1. The Dilemma of Premarital Genetic Screeningand Woman's Social Right Maryam A.G. Dashti, Ph.D. Managing Director, Al-Jawhara Hospital Fertility Applications and Genetic Dignosis Al-Jawhara Centre for Molecular Medicine, Genetics and Inherited Diseases Assistant Professor Department of Molecular Medicine College of Medicine and Medical Sciences Arabian Gulf University Kingdom of Bahrain

2. Biography in short • PhD in clinical immunology, King’s College, London • Worked in Assisted Reproduction since 1989. • Involved in Bioethics of IVF, Embryo research, Genetic testing of embryos, Stem cell technologies and other related technologies such as oocyte and ovarian tissue preservation and female infertility issues. • Established and Organized the first IVF centre in Bahrain and helped other IVF centres in GCC developing quality control/ Assurance programs for the benefit of patients positive outcome. • Currently running newly established H.H.AL- Jawhara Hospital for Fertility and Genetic Diagnosis and trying to make PGD available to the community through public health support.

4. PGD Prenatal/ others

5. The inherited haemoglobinopathies • Thalassaemias, sickle-cell disease, glucose-6-phosphate dehydrogenase deficiency (G6PD) • The Mediterranean area, The Middle East, The Indian subcontinent, Asia, Tropical Africa and The Caribbean. • 240 million people are heterozygous • ˃200 000 lethally affected homozygotes are born annually

6. Haemoglobinopathies in Bahrain • 1.6% affected with sickle cell disease • 11% carrier for sickle cell disease • 1-2% sickle cell disease in neonates • 2% carrier for ß- Thalassaemia • 17.2 - 26% affected G6PD in two different studies • 8.1% couples at risk of having affected children • 15.4% consanguieous couples at risk • 84.6 % nonconsanguineos couples at risk • Majority of sickle cell pregnancies from shiaa vilages Rajab et al 2006, AlArrayed, 1999

7. Genetic counselling: is a communication process which deals with the human problems associated with the occurrence, or the risk of an occurrence, of a genetic disorder in the family Types: Premarital genetic counselling Prenatal genetic counselling Paediatric genetic counselling Adult genetic counselling Cancer genetic counselling

8. General Principles of Ethics in Genetic Counselling • Informed Choice • Informed Consent • Respect for Individual Autonomy • Privacy and Confidentiality • Fairness and Justice • Do Good and do not Harm • Equity of Access and Opportunity

9. Advantages of Genetic Counselling • Comprehend the medical facts: diagnosis, course of the disorder, and the available management. • Appreciate contribution of heredity to the disorder, and the risk of recurrence in specified relatives. • Help people with a genetic disadvantage/ families to live and reproduce as normally as possible. • Help affected people become informed on relevant new developments, as a means of prevention in next generations • Make informed choices in reproductive health matter and provide relevant approaches to managements.

10. Premarital Genetic Screening • Accepted and encouraged by the religious laws, social values and cultural traditions. • Mandatory and approved by a royal decree. • Provided by the primary health care services. Main Objective: Screening to identify individuals at increased risk of having children with genetic diseases

11. Genetic Counselling Program in Bahrain • The genetic counselling programme was initiated in 1986 by the Ministry of Health through the Genetics Department in collaboration with the Bahrain National Hereditary Anaemia Society (BNHAS). • 1991 Premarital genetic counselling was extended to health centres by “Committee for the Prevention of Genetic Blood Diseases”

12. Any citizen about to get married, even if the spouse is nonBahraini, must undergo a premarital checkup, which includes some hereditary, infectious and other diseases according to the regulation issued by H.E. the Minister of Health”. • Law number 11 for the year 2004 requiring mandatory premarital counselling and testing for couples wishing to marry (Government Gazette: Issue 2640, 23rd June 2004)

13. Premarital Genetic Screening in Bahrain • Student screening program for inherited blood disorders In order to protect privacy, confidentiality, and prevent stigmatization, cards with test results given to students in a sealed envelope, delivered via their school, to be opened at home. • Mandatory premarital genetic counselling and screening prior to documentation (2004) PMGC is mandatory in Bahrain, but the clients are free to take the advice or not, and privacy is secured during the counselling • Newborn screening for Hemoglobinopathies 2007.

14. Advantages of Obligatory Premarital Genetic Counselling and Screening • Increase of ‘separation before engagement’ in ‘arranged’ marriages • Decline of 50% in incidence of sickle cell disease in neonates • Decline in rate of cousin marriages from 45.5% in the previous generation to 39.4% in the present generation. • Increase awareness of negative effects of consanguineous marriages AlArrayed, 2005

15. Disadvantages of Obligatory Premarital Genetic Counselling and Screening • Labelling of carrier females • Selection- who to select • Inappropriate anxiety in carriers sp. females • Limiting marriage chances for females • Late compromised marriages for female carriers • Commitment of females to tolerate the burden of prenatal/ abortion? Or fertility treatments for pre-implantation genetic diagnosis when both couple are diagnosed as being carriers.

16. Incidents encountered • Negative attitude towards PMGS by some single males and their families. • Delay in marriage proposals to females being diagnosed as carriers (tagged). • Pressurizing females to proceed with consanguineous marriages to a carrier cousin in some religiously and socially conservative families. • Anxious and insecure females • Abstinence of having children

17. The problem and the solutions • Human right: If, a woman is diagnosed to be a carrier of a genetic problem, psychologically there is a strong conflict between the benefit of avoiding a marriage with someone carrier for the same disorder (including consanguineous marriage) and her right as a person to live the life according to her plan, her principles and wishes. • Psychological issues: From this, a wide panel of distress can start, isolation, fear to accept a marriage, fear to accept other genetic tests, feeling of shame, feeling of having a stigma, feeling of being punished and frustration.

18. Autonomy: One way to reduce post- test distress is by giving the future couple informed consent underling their own rights to know or not to know the test result, limits of the test, importance, benefits and the possible side effects of testing. Then they will be able to decide if they want or not to go further with testing. • Elaborate counselling process and psychological support encourages the autonomy right of any person to chose and to decide.

19. Methods like PGD and prenatal diagnosis may be useful to avoid the risk of 25% of an affected child in a carrier partner. So, there are still 75% chances to conceive a normal child or a carrier state child.   Prenatal testing/ Abortion ?? Cost of ART+ PGD US$10,000-15,000

20. Recommendations • Informative counselling sessions of both partners supported by proper education program and psychological support. • Involvement of the immediate family members like next of kin or brothers in the counselling sessions and who can be a support for the female in case of disparity and distress. • Education and encouragement of the society towards marriages involving healthy young males with carrier females, and using PGD procedures for selecting disease free embryos for pregnancy. • To provide PGD treatments as part of public health

21. Suggestions for the Network • Presenting the articles in both languages in Arabic and English • Suggesting some solutions for female issues • Organizing a subcommittee for dealing with these problems at governmental level • Hosting meetings in different countries in the Arab world in collaboration with women higher council or equivalent.