Strategies To Reduce The Incidence Of Genetic Disorders In The Arab World By Prof. Hossam E. Fadel, Noor

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Published on November 26, 2008

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Noor Conference | Global Knowledge Forum | http://www.noor.org.sa | Day 2 - Panel 3 - Strategies To Reduce The Incidence Of Genetic Disorders In The Arab World By Prof. Hossam E. Fadel, Noor

Strategies to Reduce the Incidence of Genetic Disorders in the Arab World By Hossam E. Fadel, MD, PhD Maternal Fetal Medicine University Hospital Clinical Professor Medical College of Georgia Augusta, Georgia

Genetic Disorders in Arab Countries The incidence in Arab countries is higher than in industrialized nations. Responsible for a significant proportion of perinatal morbidity, mortality, infant deaths, and handicaps. New syndromes: 100 autosomal recessive, 10 autosomal dominant, and 5 possibly x-linked or autosomal recessive. The most common are hemoglobinopathies.

The incidence in Arab countries is higher than in industrialized nations.

Responsible for a significant proportion of perinatal morbidity, mortality, infant deaths, and handicaps.

New syndromes: 100 autosomal recessive, 10 autosomal dominant, and 5 possibly x-linked or autosomal recessive.

The most common are hemoglobinopathies.

Factors in the Increased Incidence of Genetic Disorders Ethnic diversity. High rate of consanguineous marriages. Large sized families. Advanced maternal/paternal age. Relative lack of genetic resources; genetic counselors, diagnostic facilities. Lack of awareness about the significance of genetic disease and the means to decrease its incidence. Reluctance to seek preconception counseling and prenatal diagnosis. Religious/cultural factors. The belief in destiny and that nothing will change it.

Ethnic diversity.

High rate of consanguineous marriages.

Large sized families. Advanced maternal/paternal age.

Relative lack of genetic resources; genetic counselors, diagnostic facilities.

Lack of awareness about the significance of genetic disease and the means to decrease its incidence.

Reluctance to seek preconception counseling and prenatal diagnosis.

Religious/cultural factors. The belief in destiny and that nothing will change it.

Consanguineous Marriages The incidence ranges from 25% in Beirut to 90% in Bedouins in Kuwait and Saudi Arabia. The most common form is paternal first cousins. Does not appear to be related to socioeconomic status. Is more common in rural communities. Does not appear to be decreasing.

The incidence ranges from 25% in Beirut to 90% in Bedouins in Kuwait and Saudi Arabia.

The most common form is paternal first cousins.

Does not appear to be related to socioeconomic status.

Is more common in rural communities.

Does not appear to be decreasing.

Consanguineous Marriages Increase in the incidence of autosomal recessive disease. Possible increase in the incidence of Down syndrome due to the presumptive presence of recessive nondisjunctional gene(s). A population study in Norway found that the risk of birth defects in consanguineous marriages is double that of nonconsanguineous marriages.

Increase in the incidence of autosomal recessive disease.

Possible increase in the incidence of Down syndrome due to the presumptive presence of recessive nondisjunctional gene(s).

A population study in Norway found that the risk of birth defects in consanguineous marriages is double that of nonconsanguineous marriages.

Consanguineous Marriage and Islam The preponderance of consanguineous marriage in Arab countries predates Islam. Islam did not prohibit it. Does Islam discourage it? A hadith is cited: marry from afar (not near relatives) so that the offspring is not weakened. The second Caliph Umar is reported to have given this advice. The cited hadith is only mentioned as a “strange hadith”.

The preponderance of consanguineous marriage in Arab countries predates Islam.

Islam did not prohibit it.

Does Islam discourage it?

A hadith is cited: marry from afar (not near relatives) so that the offspring is not weakened.

The second Caliph Umar is reported to have given this advice.

The cited hadith is only mentioned as a “strange hadith”.

Family Size During the 1987-1993 period, the average family size (including parents) varied from 5.3 in Egypt to 8.8 in Kuwait. The total fertility rate during the 1990-1994 period in the Arab world was 5.37 children/woman (3 in Lebanon, 8.6 in Yemen). Arab families tend to marry younger and continue to reproduce to an older age. Advanced maternal age increases the incidence of chromosomal anomalies, DS. Advanced paternal age increases the incidence of autosomal dominant disorders.

During the 1987-1993 period, the average family size (including parents) varied from 5.3 in Egypt to 8.8 in Kuwait.

The total fertility rate during the 1990-1994 period in the Arab world was 5.37 children/woman (3 in Lebanon, 8.6 in Yemen).

Arab families tend to marry younger and continue to reproduce to an older age.

Advanced maternal age increases the incidence of chromosomal anomalies, DS.

Advanced paternal age increases the incidence of autosomal dominant disorders.

Strategies to Reduce the Incidence of Genetic Disorders in the Arab World. Public Education Genetic diseases, modes of inheritance, increased incidence in consanguineous marriages, and correction of religious misconceptions. Diagnosis, treatment and even better, prevention of disease is ordained by Allah and does not contradict belief in destiny.

Genetic diseases, modes of inheritance, increased incidence in consanguineous marriages, and correction of religious misconceptions.

Diagnosis, treatment and even better, prevention of disease is ordained by Allah and does not contradict belief in destiny.

Strategies (Cont’d) Premarital screening, detailed genetic history, carrier screening for the more common genetic diseases, especially when a consanguineous marriage is contemplated, and calculating the risk for affected offspring. Family oriented carrier screening in families with affected individuals. Family planning especially to offer contraception to “older” women.

Premarital screening, detailed genetic history, carrier screening for the more common genetic diseases, especially when a consanguineous marriage is contemplated, and calculating the risk for affected offspring.

Family oriented carrier screening in families with affected individuals.

Family planning especially to offer contraception to “older” women.

Strategies (Cont’d) Preimplanation Genetic Diagnosis IVF is performed. Resulting pre-embryos undergo diagnostic tests. Only pre-embryos “free” of disease are implanted. Avoids the need for TOP if a disease is later discovered. Complex and costly. Ethical concerns: discarding human pre-embryos, use for sex selection for nonmedical reasons, available only to the wealthiest.

IVF is performed.

Resulting pre-embryos undergo diagnostic tests.

Only pre-embryos “free” of disease are implanted.

Avoids the need for TOP if a disease is later discovered.

Complex and costly.

Ethical concerns: discarding human pre-embryos, use for sex selection for nonmedical reasons, available only to the wealthiest.

Strategies (Cont’d) Preconception and Prenatal Care Improving the nutrition and general health. Detailed medical and medication history. Avoidance of teratogenic medications before and during pregnancy or their substitution e.g. coumadin to be switched to heparin. Strict diabetic control (normalization of HbA 1c ). Alanine free diet for phenylketonurics.

Improving the nutrition and general health.

Detailed medical and medication history.

Avoidance of teratogenic medications before and during pregnancy or their substitution e.g. coumadin to be switched to heparin.

Strict diabetic control (normalization of HbA 1c ).

Alanine free diet for phenylketonurics.

Strategies (Cont’d) Prenatal Diagnosis Serum screening for DS, Trisomy 18, and NTD. Invasive testing: CVS at 11-13 weeks, amnio at 15-18 weeks (chromosomal abnormalities or genetic diseases, e.g. hemoglobinopathies.) Targeted ultrasound: 1 st Trimester: anencephaly 2 nd /3 rd Trimesters: Lethal malformation – bilateral renal agenesis. Severe malformation – hydrocephaly, myelomeningoceles, skeletal dysplasia, heart defects, diaphragmatic hernia.

Serum screening for DS, Trisomy 18, and NTD.

Invasive testing: CVS at 11-13 weeks, amnio at 15-18 weeks (chromosomal abnormalities or genetic diseases, e.g. hemoglobinopathies.)

Targeted ultrasound:

1 st Trimester:

anencephaly

2 nd /3 rd Trimesters:

Lethal malformation – bilateral renal agenesis.

Severe malformation – hydrocephaly, myelomeningoceles, skeletal dysplasia, heart defects, diaphragmatic hernia.

Management of Prenatally Diagnosed Fetal Malformation Medical treatment. Fetal cardiac arrhythmia. In-utero surgical treatment - diaphragmatic hernia, myelomeningocele, bladder outlet obstruction. Neonatal surgical treatment - gastroschisis, omphalocele, NTDs, heart defects. TOP.

Medical treatment. Fetal cardiac arrhythmia.

In-utero surgical treatment - diaphragmatic hernia, myelomeningocele, bladder outlet obstruction.

Neonatal surgical treatment - gastroschisis, omphalocele, NTDs, heart defects.

TOP.

Strategies (Cont’) Ethical/Religious Guidelines There are no clear guidelines of what is permissible as indications for TOP for fetal defects/malformations. Some Muslim scholars prohibit it completely. Others allow it for certain (lethal) malformations only. Some allow it only up to 40 days while others allow it until 120 days of conception.

There are no clear guidelines of what is permissible as indications for TOP for fetal defects/malformations. Some Muslim scholars prohibit it completely. Others allow it for certain (lethal) malformations only. Some allow it only up to 40 days while others allow it until 120 days of conception.

The Islamic Jurisprudence Council of the Islamic World League issued the following Fatwa in 1990 “ Abortion is allowed when requested by the parents, if a committee of specialized competent physicians decide that the fetus is grossly malformed, that the malformation is untreatable and that the life of the “baby” if born alive will be extremely difficult/disturbing to the individual and the family. The abortion is permissible only up to 120 days of conception.”

The Islamic Jurisprudence Council of the Islamic World League issued the following Fatwa in 1990

“ Abortion is allowed when requested by the parents, if a committee of specialized competent physicians decide that the fetus is grossly malformed, that the malformation is untreatable and that the life of the “baby” if born alive will be extremely difficult/disturbing to the individual and the family. The abortion is permissible only up to 120 days of conception.”

Unanswered Questions Do these criteria include fetuses with DS, thalassemia major, sickle cell disease or those with significant birth defects that even if can be corrected surgically will result in severe deformity/handicap e.g. hydrocephaly, NTD?

Do these criteria include fetuses with DS, thalassemia major, sickle cell disease or those with significant birth defects that even if can be corrected surgically will result in severe deformity/handicap e.g. hydrocephaly, NTD?

Strategies (Cont’) Establishment of Genetic Services Introducing/augmenting genetic education into medical, nursing, social service curricula. Encouraging specialization in genetics both as clinical geneticists, genetic research/technology and genetic counseling. Establishing adequate genetic diagnostic services.

Introducing/augmenting genetic education into medical, nursing, social service curricula.

Encouraging specialization in genetics both as clinical geneticists, genetic research/technology and genetic counseling.

Establishing adequate genetic diagnostic services.

Make options of premarital, preconception counseling, carrier screening, and prenatal diagnosis available in the public sector so that cost would not be a barrier.

Make options of premarital, preconception counseling, carrier screening, and prenatal diagnosis available in the public sector so that cost would not be a barrier.

Strategies (Cont’d) Initiation of national birth registries. Initiation of population screening. Neonatal screening for metabolic disease. Establishing databases for genetic diseases such as the one in UAE “Catalogue of Transmission Genetics in Arabs (CTGA).

Initiation of national birth registries.

Initiation of population screening.

Neonatal screening for metabolic disease.

Establishing databases for genetic diseases such as the one in UAE “Catalogue of Transmission Genetics in Arabs (CTGA).

Conclusion Congenital malformations and genetic diseases are relatively frequent in Arab countries. They exact a heavy economic toll as they involve a potentially productive sector (the youth), in addition to the significant cost of healthcare and social services.

Congenital malformations and genetic diseases are relatively frequent in Arab countries.

They exact a heavy economic toll as they involve a potentially productive sector (the youth), in addition to the significant cost of healthcare and social services.

Conclusion (cont’d) Investing in the above mentioned national strategies will have a high benefit/cost ratio in addition to significantly reducing human suffering.

Investing in the above mentioned national strategies will have a high benefit/cost ratio in addition to significantly reducing human suffering.

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