Genetic Counselling: A Practical Guide for Arab Families

What is genetic counselling and how does it differ from a regular appointment?

When a child is diagnosed with an inherited condition, or when a prenatal test returns an unexpected result, a family is usually referred to a genetic counsellor or clinical geneticist. The difference between these specialists and a general physician is not in their medical knowledge: it is in their specific ability to translate complex genetic information into language that a family can act on, and to help them navigate decisions that are simultaneously medical, personal, and often religious.

Genetic counselling differs from most medical consultations in one important respect: the information you receive does not belong only to you. A result showing that you carry a faulty gene copy means that your siblings, parents, and children may be in the same position. The counsellor helps you think through how to share that information with family members in a way that is honest without being destructive.

A 2025 paper in Human Genomics examining provider perspectives on genetic counselling in the Middle East found that stigma, limited awareness, and misconceptions about the relationship between genetics and religion are the primary barriers preventing families who genuinely need the service from accessing it. The same paper noted that counsellors working in the region report that the vast majority of families, once engaged, respond positively to accurate information presented respectfully.

Who should seek genetic counselling?

The list of situations warranting referral is broader than most people expect. The obvious cases include: a child in the family diagnosed with a known genetic condition such as thalassaemia, sickle cell disease, Down syndrome, or phenylketonuria. A child who died in infancy without a clear cause. A structural abnormality found on an antenatal ultrasound scan. An abnormal chromosome result from amniocentesis or a chorionic villus sample.

Less obvious but equally important situations include: first or second degree consanguineous marriage with a plan to have children, even when the extended family appears healthy. Three or more unexplained miscarriages. Multiple members of the same family affected by a condition that is not well understood. A personal or family history of conditions known to have a genetic basis, including haemophilia, muscular dystrophy, certain heart muscle diseases, and hereditary cancers.

A landmark paper published in the BMJ in 2006 by a team of Arab geneticists documented that genetic disorders in the Arab world carry a distinct profile driven by high rates of consanguineous marriage, which exceed 25 percent in Jordan, Iraq, Sudan, and Egypt and reach more than 50 percent in some communities. This does not mean consanguineous marriage is invariably harmful. It does mean that carrier screening before marriage is more valuable in this context than in populations where unrelated couples are the norm.

What actually happens in a genetic counselling session?

The first session opens with a detailed family history covering at least three generations. The counsellor asks about conditions on both sides of the family: who died young and from what, whether any children failed to thrive or had unexplained developmental delay, whether any condition seems to reappear in the same generation or skip generations. From these answers the counsellor draws a pedigree, a visual diagram of the family tree that makes inheritance patterns visible at a glance.

Once the pedigree is drawn, the counsellor explains which inheritance pattern best fits what is seen. Autosomal dominant conditions, where one faulty gene copy is enough to cause disease, appear in every generation and affect both males and females equally. Autosomal recessive conditions, which include thalassaemia, PKU, and many of the common regional conditions, require two faulty copies and typically appear in siblings without an affected parent. X-linked conditions like haemophilia affect males and are carried by females.

Probabilities are presented clearly and honestly. A 25 percent chance means one in every four pregnancies on average. A 50 percent chance means one in two. The counsellor gives you these numbers and their context, then steps back. This principle is called non-directive counselling and it is a fundamental ethical commitment in the specialty: the counsellor informs, you decide. No reputable genetic counsellor will tell you what reproductive choice to make.

Carrier testing: what a positive result means

Carrier testing identifies whether you carry a single faulty copy of a gene without being affected by the associated disease yourself. Carriers are fully healthy. The significance of carrying becomes relevant only in reproduction: if both partners carry a faulty copy of the same autosomal recessive gene, each pregnancy carries a 25 percent chance of inheriting two faulty copies and being affected.

A positive carrier result is not a diagnosis of disease. This distinction matters enormously because many people who are told they carry the gene for thalassaemia or sickle cell disease believe they have been told they are ill. They have not. What they have been given is information that affects reproductive decisions, not their own health or life expectancy. Carriers live normal healthy lives in almost all autosomal recessive conditions.

Mandatory or semi-mandatory premarital carrier screening programmes exist in Saudi Arabia, UAE, Kuwait, Bahrain, Qatar, and Oman. They screen primarily for thalassaemia and sickle cell disease. The purpose is not to prevent marriages but to ensure couples make informed decisions. A 2021 study in the Journal of Biosocial Science examining consanguinity and genetic awareness among Syrian refugees in Lebanon found that even among well-educated young adults, understanding of what a carrier result actually means was frequently incomplete, underscoring the need for counselling alongside any screening programme.

Reproductive options when both partners are carriers

Knowing before or during pregnancy that both partners carry the same recessive gene does not mean ceasing to have children. It means that options exist and can be considered deliberately. The first option is natural conception, accepting the odds and using prenatal diagnosis to assess each individual pregnancy. Many couples choose this path and have healthy children alongside affected ones, adapting their support accordingly.

Prenatal diagnosis for genetic conditions can be performed by chorionic villus sampling (CVS) between eleven and fourteen weeks of pregnancy, or by amniocentesis from fifteen weeks. Both involve taking a small sample from placental or amniotic fluid and testing foetal DNA. The result tells the family whether this particular pregnancy is affected, a carrier, or entirely unaffected. What they do with that information is their decision, shaped by their own religious convictions and family circumstances.

Preimplantation genetic testing (PGT) combined with in vitro fertilisation allows embryos to be tested before transfer to the uterus, selecting unaffected embryos for implantation. This avoids any decision about an established pregnancy. It is expensive, does not guarantee a successful pregnancy, and is not available in all countries in the region. However, it is available in specialist centres in Saudi Arabia, UAE, Egypt, and Jordan, and has been permitted under Islamic jurisprudence in the appropriate clinical context by several scholarly councils.

Genetic counselling and Islamic values: no contradiction

Many families in the region hesitate to pursue genetic counselling from a concern that it conflicts with tawakkul (trust in God) or with acceptance of divine decree. Islamic scholarship on this question is consistent and clearly established: seeking medical knowledge and taking precautions to protect the health of future generations is a religious duty, not a rejection of faith. The Quran and prophetic tradition repeatedly encourage the pursuit of knowledge and prevention of harm.

A paper by Dr Mohammed Ali Al-Bar published in the Eastern Mediterranean Health Journal in 1999 reviewed genetic counselling from an Islamic perspective and affirmed that understanding genetic disease and counselling families about it is entirely consistent with Islamic principles. A paper in the Saudi Medical Journal in 2005 by Dr Aida Al-Aqeel extended this analysis to genomics and gene therapy, establishing that Islamic ethics supports the responsible use of genetic knowledge to prevent suffering.

A 2025 study published in the Journal of Genetic Counseling, based on interviews with practitioners in the UAE, confirmed that successful genetic counselling in the region is not about overriding religious belief but about working within it. Practitioners who engage directly with patients' faith frameworks, rather than treating religion as an obstacle to navigate around, consistently achieve better outcomes in terms of informed decision-making and family engagement.

How to prepare for a genetic counselling session

Good preparation makes the session more productive and reduces the number of follow-up appointments needed. Before you go, gather: any previous genetic test results for yourself or any family member, medical records or death certificates for children who died young or had unexplained illness, and the names of any conditions that recur in your extended family on both sides. If you do not know the specific diagnoses, write down what you know and let the counsellor help fill in the picture.

Attend with your partner if the consultation relates to a shared reproductive decision. Some follow-up tests may require samples from parents or siblings, so knowing who else might be asked to participate helps set expectations. Bringing a trusted family member or friend for emotional support is entirely appropriate: the information you receive may be significant and having someone else present who can listen alongside you is helpful.

Write your questions down in advance. Useful questions include: what is the exact probability for each pregnancy, what tests are available now to clarify the situation, what options exist in this country and what do they cost, and how should this information be shared with the broader family. The counsellor will work through all of these but having them written prevents important questions from being forgotten in the moment.

Where to find genetic counselling services in the region

Clinical genetics and genetic counselling services are available at most major teaching hospitals in the region, though the depth of expertise varies considerably. In Saudi Arabia, specialist genetics centres operate at King Faisal Specialist Hospital in Riyadh and at major Ministry of Health hospitals. The UAE has developed some of the most advanced genetic medicine programmes in the Arab world, particularly through Tawam Hospital in Al Ain, which has served as a regional reference centre. Jordan, Kuwait, Bahrain, and Egypt have genetics units at their leading university and national referral hospitals.

In countries where services are limited or disrupted, including Syria, Yemen, Sudan, and Lebanon, remote consultation with a genetics centre in Jordan, the UAE, or Egypt is increasingly possible. DNA samples collected locally can be sent to reference laboratories in the region or internationally, with results reviewed via telemedicine. Some specialist genetics clinics offer Arabic-language remote consultations that have expanded access meaningfully in recent years.

Do not hesitate to ask your general practitioner or paediatrician for a referral specifically to a clinical geneticist or genetic counsellor. If the first doctor does not refer you and you believe you have grounds, you are entitled to request it directly. Genetic counselling is not a luxury service in the situations where it is genuinely indicated: it is the appropriate standard of care.

Sources

• Shenbagam S, Taylor A, Jain R et al: Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges, Human genomics, 2025
• Al-Gazali L, Hamamy H, Al-Arrayad S et al: Genetic disorders in the Arab world, BMJ (Clinical research ed.), 2006
• Almarri HJ, Koodakkadavath S, Rahma AT et al: Voices in practice: Exploring genetic counseling ethical, cultural, social, and religious dynamics in the UAE, Journal of genetic counseling, 2025
• El Sabeh M, Kassir MF, Ghanem P et al: Consanguinity rates among Syrian refugees in Lebanon: a study on genetic awareness, Journal of biosocial science, 2021
• Albar MA: Counselling about genetic disease: an Islamic perspective, Eastern Mediterranean health journal, 1999
• Al-Aqeel AI: Ethical guidelines in genetics and genomics: an Islamic perspective, Saudi medical journal, 2005