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

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

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

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

Types of Genetic Screening in the Arab world

Premarital

Prenatal

Postnatal

Pre-implantation

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

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 1.2-1.7 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

Schematic representation of consanguineous marriage rates worldwide

Tadmouri et al, 2009

Tadmouri et al. Reproductive Health 2009 6:17

Consanguinity rates in Arab populations

Country Overall consanguinity

Algeria 22.6-34

Bahrain 39.4-45.5

Egypt 20.9-32.8

Egypt (nubia)

60.5- 80.4

Iraq 47- 60

Jordan 28.5- 63.7

Kuwait 22.5-64.3

Lebanon 12.8-42

Libya 48.4

Mauritania 47.2

Country Overall consanguinity

Morocco 19.9-28

Oman 56.3

Palestine 17.5- 66.3

Qatar 54

KSA 42.1- 66.7

Sudan 44.2- 63.3

Tunisia 20.1- 39.8

UAE 40- 54.2

Yemen 40- 44.7

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

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

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

Ethical, Social and Economical Evaluation of Genetic Screening Jan. 2012- Sep. 2013

A prospective randomized study

72 couples

Counselled

Signed informed consent

Filled questionnaire

Pre-marital Post- marital Pre-implantation Indication Impact

Blood diseases carrier- Male

16 2 0 none none

Blood diseases carrier- Female

5 1 1 none none

Blood diseases affected- Male

20 18 0 none none

Blood diseases affected- Female

16 12 0 none none

Blood diseases both carriers

58 23 34 none Cooperative

Metabolic gene defect both

carriers

0 11 2 Metabolic disease in

one

Cooperative

Other genetic defects 13 22 7 Infertility Cooperative

Chrom. Abn. Male 18 22 14 Infertility Cooperative female

Chrom. Abn. Female 0 5 7 Infertility Semi- cooperative

Chrom. Abn. both 14 19 8 Infertility Cooperative

PGD cases performed during 2012 and 2013

PGD for blood diseases

PGD for SS PGD for others

Month 2012 2013 2012 2013 2012 2013

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

* Discrepancy in numbers indicate individuals who abstained giving answers

Questionnaire 1 result Females males

yes no yes no

Is your marriage decided by your family? 16 56 10 62

Are you related (1st cousins)? 16 56 16 56

Do you have support from your family? 26 46 43 29

Were you counselled after genetic analysis?

72 0 72 0

Were you satisfied about information provided?

18 54 21 51

Do you need another counselling session? 72 0 72 0

Was your family involved in the counselling?

46 26 25 47

Is your family involved in decision making?

43 29 19 53

Well you chose to go against your family well?

15* 41* 29 43

Are you welling to go ahead with marriage despite the negative impact on your future life?

31* 14* 25* 29*

Questionnaire 2 result

Females males

yes no yes no

Are you more aware of your genetic situation?

65 7 68 4

Did your commitment change after counselling?

29 43 32 40

By knowing the consequences of your marriage, well you insist on having children?

72 0 72 0

Well your family accept, if you choose not to have children without PGD?

12 60 7 65

Do you understand the cons and pros of PGD?

65 7 68 4

Do you have adequate funds for PGD? 9 63 9 63

Do you have medical insurance? 7 65 12 60

Are you in favour of governmental support for PGD?

72 0 72 0

Questionnaire 3 result: applicable to 19 Females who declined Are your chances for marriage affected by your genetic

analysis testing result?

Answers No of patients

To certain extent 6

Have to be more selective if I want a healthy family

10

Cant afford the expenses of PGD 10

No not really 3

Have no objection to my destiny all

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 1st 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.

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.

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.