Issue 22 / April - June 1998 Genetic Counselling and Genetic Iseases: An Islamic Perspective Dr. Muhammed Ali Albar Qualifications and task of the counsellor Genetic counselling is the process whereby an individual or family obtain advice and information about a genetic condition that may affect the individual and family, their children and the wider community. The aim of such counselling is to enable appropriate decisions to be taken regarding marriage, reproduction, abortion, and health management. Islamic teachings encourage counselling. The Prophet Muhammad, upon him be peace and blessings, said: The religion (i.e. Islam) is sincere counselling and good advice (Bukhari, Muslim). He also said: The counsellor should be trustworthy. Genetic counselling is a new field of medical practice that demands extensive knowledge of genetics, the management of genetic disease and how it impacts on the individual, the family and the community at large. The counsellor must therefore be knowledgeable in the field, otherwise he will be answerable. The Prophet said: If a person practises medicine without appropriate knowledge, then he is liable (Abu Dawud). Experts in Islamic law explain that the person must be proficient in the particular field of medicine he is practising; it is not sufficient to know general medicine, the person must have obtained the appropriate specialist training. The Prophet said: No man is wise except through experience (Bukhari, Muslim). In addition to knowledge and proficiency, the counsellor needs also to be considerate, compassionate and able to guard the confidentiality of the information he is given. The Prophet said: Whoever guards the secrets of a Muslim, God will guard his secret in this life and on the Day of Resurrection (Muslim). And: God will show mercy to those who are merciful to people (Bukhari, Tirmidhi, Ahmad, and others). Being considerate and kind, and giving good advice to those who seek it, is the basis of Islamic ethics in general and medical ethics in particular. The worst thing of all is doing harm intentionally or even unintentionally, the former being a crime and the latter an offence. This rule is derived from the explicit injunction of the Prophet: Do no harm nor return harm with harm (Abu Dawud). The genetic counsellor may not impose his views on his clients. Rather, he must let them reach their own decisions. The counsellor’s responsibility is to enable his clients’ responsibility by providing them with the necessary facts and information in plain language that they can understand easily and fully. The Islamic creed places the highest value on personal freedom and hence upon personal responsibility for one’s actions. The genetic counsellor should therefore provide the best available information, and then give the most sincere advice without trying to impose it: the clients must reach any decision themselves. Genetic diseases Monogenic diseases, i.e. diseases inherited through one gene, constitute only 10-15% per cent of congenital diseases and malformations in the population as a whole, but account for a much larger percentage of childhood diseases: in many Western countries, for example, some 50% of all deaths of children up to age 15 are attributed to hereditary factors. Many of the most common diseases world-wide, e.g. diabetes mellitus, hypertension, ischaemic heart disease and cancer, have a hereditary component. Many neurological and psychiatric ailments are either monogenic hereditary diseases or heredity is a major causative factor. Similarly, diseases of the blood are either directly caused by a monogenic hereditary factor, or other hereditary factors have a major causative role. Thalassemia and sickle cell anaemias are examples of autosomal diseases that cause malady and high morbidity in many countries, notably in the Mediterranean and Arab world. Close-cousin marriages and their consequences Consanguine or close-cousin marriages are commonplace in most Arab countries. The incidence of genetic diseases is correspondingly high; for example, 5-10% of the population as a whole carry the gene for thalassemia. Islamic teachings do not forbid but do discourage first cousin marriages - i.e. insofar as they are permitted at all, such marriages are only allowable exceptionally, not encouraged as the norm. It is narrated that when it was brought to the attention of ‘Umar ibn al Khattab, the second Caliph, that the children of the Bani Assayib were often weak and sickly, he advised this tribe to avoid close-cousin marriages and to seek spouses for their children from remote tribes; he said: ‘Marry from remote tribes, otherwise you will be weak and unhealthy.’ Responses in the Arab world In the first half of this century, many Arab governments (Egypt, Syria, Lebanon, Tunisia, Morocco and others) made a premarital medical examination mandatory. However, this had little effect on the incidence of consanguineous marriages or hereditary diseases as there were no means for searching out carriers of genetic diseases. In any case-as we are bound to note with deep regret-a medical certificate was often provided without even a routine medical examination. Several recent symposia (for example, in Amman, Jordan, 10th August 1994) have discussed the implementation of a law making it obligatory to test for the thalassemia gene as a precondition for granting a marriage license. However, there are immense difficulties with this policy. The cost of such a test would be huge. Who would bear the cost? Most governments could not do so, and if they could, it would be by diverting funds from other more urgent medical needs. Individual citizens might decline the test or evade it on the grounds of poverty. If made compulsory, it is possible that medical certificates might be forged or false certificates sold for money. More serious is the question of personal autonomy: even if such tests could be funded and carried out with integrity, who could compel a couple, either or both of whom showed positive, not to marry? Attempting to do so would surely be, if at all practicable, wholly unethical. In the case of such a couple, a number of alternatives might be put to them: 1 contraception or sterilization to avoid pregnancy; 2 adoption; 3 donation of a sperm or ovum or pre-embryo; 4 pre-implantation diagnosis; 5 diagnosis during pregnancy (e.g. chorion villus sampling, amniocentesis, blood tests from the expectant mother and the foetus, ultra sonography, etc.) Each of these procedures needs to be scrutinized from an Islamic perspective: 1 Contraception and sterilization Contraception is allowable under Islamic law as a temporary measure if the couple decide upon it and if there is no harm from the particular method used. Sterilization, however, is not acceptable unless there is danger to the mother’s health from pregnancy. Most couples long to have children and will not choose sterilization unless there is a serious impediment preventing safe procreation in their case. As infertile couples are willing to pay out huge sums of money and go to great lengths to have a child, it is impractical to expect couples carrying a recessive gene such as for thalassemia to opt for sterilization. Everyone of us carries some recessive genes and no-one will choose celibacy or sterilization for that reason alone. We may note that there is support for sterilization from at least some of our jurists in the situation where a couple have already had some congenitally affected children and some not so affected, in which case they might accept this option. 2 Adoption Adoption was abrogated by the Qur’an, and in Islamic law adoptive parents are not recognized as parents in the way that natural parents are. The child must be attached in lineage to his or her natural parents, and legitimate pregnancy is, according to the law, only within wedlock. The Qur’an says: He did not make your adopted ones your sons. That is only a saying from your mouths which has no reality. Call them by [the names of] their [true] fathers. That is just in the sight of God. But if you do not know their fathers, call them your brothers in faith or your mawlas. There is no blame on you if you are mistaken. What counts is the intention of your hearts, and Allah is oft- forgiving and most merciful. (33, 4-5) Bringing up orphans is a highly commended act of charity, encouraged by Islamic teachings, but even then the lineage of the child must remain to his or her natural father. Therefore, while a couple who are carriers of a lethal gene or a gene that carries a risk of great malady and morbidity for their offspring cannot become natural parents, they can nevertheless adopt one or more orphans in the sense that they can look after and care for them and have all the rewards of bringing them up. 3 Donation of a sperm, ovum or pre-embryo In the West, a new technology of procreation is being made available to infertile couples. This technology, making use of semen banks and in vitro fertilization techniques, may involve donated sperm or ova, a donated pre-embryo (blastula or morulla), or, in the case of surrogate motherhood, a None of this technology is acceptable in the view of Islamic teachings which recognize procreation only within the bounds of wedlock excluding any third party from the process. Therefore, a Muslim couple who are carrying a lethal gene or serious disease gene cannot make use of either donated sperm or ova or pre-embryos or surrogate motherhood. These methods are refuted by all Islamic jurists on the grounds that procreation must be limited to the spouses alone, without the intervention of third parties. 4 Pre-implantation diagnosis Advances in medical technology over the last decade or so have made it possible, at least in some specialist clinics, to remove one or more cells from donated womb, the blastula (pre- embryo) prior to its implantation in the womb. A husband’s semen is allowed to fertilize in vitro the ovum taken from his wife; when fertilization occurs, the zygote is allowed to grow to the blastula or morulla stage - this happens a few days after fertilization. If genetic disease or chromosomal abnormality (e.g. triosomy 13, 18 or 21) is suspected, one or more cells are taken from the blastula for appropriate testing. If the blastula is shown to have the defective gene or chromosome, it is discarded and another one tested. Only the unblemished blastula is reimplanted. The main disadvantage of this technology is the low rate of success after reimplantation (pregnancy rate 30% in the best centres; while take-home-baby rate is around 15%). The merit of the method is that it avoids abortion. The technique is also paving the way for gene therapy and manipulation at an early stage: as yet unfeasible, this will surely be possible in the near future. However, along with the technical problems facing gene therapy, there are also a number of ethical problems (see below). 5 Diagnosis during pregnancy Better and more accurate diagnoses of congenital malformations, genetic diseases and chromosomal abnormalities are becoming available with the tremendous advances in medical technology. Simple blood tests from the expectant mother can help the diagnosis of, for example, alpha feto proteins in cases of neural tube defects, viz. anencephaly and spina bifida. Ultrasound can detect many dysmorphic abnormalities as well as congenital defects of the heart, brain and kidneys. CVS or chorion villus sampling, which can be done during the 8th week of pregnancy, can detect genetic and chromosomal defects when suspected. So too can amniocentesis but at a much later stage of pregnancy, between the 14th and 16th weeks. The advantage of early diagnosis by CVS is offset by higher percentage of abortions and complications (2-3%), compared to amniocentesis which is safer albeit giving a much later diagnosis. The couple are offered the choice of abortion when a serious congenital or hereditary disease is discovered. The Islamic Jurisprudence Council of the Islamic World League in its 12th session (Makka, 10- 17 February 1990) agreed a fatwa by majority vote which allows the option of abortion to the parents on the condition that the pregnancy is less than 120 days old (computed from fertilization and not last menstrual cycle); that a committee of specialist experts have decided that the foetus is grossly malformed and that its life would be a calamity for the foetus and for the family; and that the malformation is very serious and neither treatable nor manageable. On the basis of this fatwa, abortions of foetuses with serious congenital diseases are carried out in the hospitals in Saudi Arabia. Unanswered ethical questions and dilemmas There are many dilemmas. Is it allowable to abort a foetus showing Downs syndrome although even with this condition it is possible to live a quiet, peaceful life? If the Huntington’s disease gene is detected, is an abortion justified, although the disease will not appear until age forty or even sixty? Is it permissible to abort those who are homozygous for sickle cell disease or thassalemia or phenyl ketonuria or homocystinuria? For the last two diseases mentioned there is a treatment, namely to avoid foods that contain phenyl alanine or methionme. There is some treatment possible also for the haemolytic anaemias, namely blood transfusion and iron chelation therapy (desferrio- xamine injections). It is greatly to be hoped that in the not too distant future advances in gene therapy will remove the need to consider abortion in such cases. In the meantime, the best policy is to encourage couples considering marriage to have pre-marital medical examinations for the infectious and hereditary diseases common in their community. It is also important to educate people more effectively and actively about the dangers of consanguineous marriages which, as noted earlier, are very common in most Arab countries.