Genetic counselling in Israel is a well‑established part of the healthcare system, offered through public hospitals, community clinics and a national network of certified genetic counsellors. A consultation typically involves a detailed review of personal and family medical history, followed by a discussion of the nature, inheritance and implications of a suspected or confirmed genetic condition. Counsellors explain the purpose, benefits and limitations of available tests, and help individuals and families make informed choices that align with their values and circumstances. The process is voluntary, and no decision is taken without the patient’s explicit consent.
Referral for genetic counselling may come from a general practitioner, a specialist or a midwife, particularly after abnormal prenatal screening results. Couples planning a pregnancy, individuals with a known family history of a genetic disorder, and people from ethnic groups with a higher frequency of certain recessive conditions are commonly seen. The counsellor does not direct the patient but provides balanced, evidence‑based information so that the person can decide together with their own doctor.
Israel runs a national programme for carrier screening that is offered free of charge to all citizens and permanent residents before or during early pregnancy. The panel covers a wide range of recessive disorders that are more prevalent in specific population groups, such as cystic fibrosis, Tay‑Sachs disease, spinal muscular atrophy and certain haemoglobinopathies. Testing is done from a blood or saliva sample and results are usually available within a few weeks. If both partners are found to be carriers of the same condition, the couple is offered follow‑up counselling to discuss reproductive options, including prenatal diagnosis or preimplantation genetic testing.
Prenatal screening itself consists of two main components: first‑trimester screening for chromosomal abnormalities such as Down syndrome (using ultrasound and maternal blood markers), and a second‑trimester anatomy scan. For women at increased risk of having a child with a genetic disorder, more targeted tests such as chorionic villus sampling or amniocentesis are available. These procedures carry a small risk of miscarriage and are offered only after thorough counselling. It is important to note that screening results indicate a probability, not a diagnosis, and that further testing is needed to confirm any suspected condition.
When a rare or metabolic disease is suspected, the diagnostic pathway in Israel typically begins with a specialist paediatrician or clinical geneticist. A detailed clinical assessment is followed by biochemical tests, genetic sequencing (such as whole‑exome or whole‑genome sequencing) or targeted analysis depending on the presentation. The country has a number of accredited molecular genetics laboratories that perform these tests, and results are reviewed by a multidisciplinary team including metabolic physicians, biochemists and genetic counsellors.
For patients with undiagnosed conditions, there are referral pathways to specialised centres that coordinate testing and interpretation. Genomic sequencing can identify the underlying cause in many but not all cases; a negative result does not rule out a genetic cause. In some situations, parents and affected children may be offered participation in research studies that aim to discover new disease genes. The diagnosis of a rare disease is a long process that often involves multiple consultations and repeat tests. Families are supported throughout by the genetic counselling service.
A genetic test result may be positive, negative or of uncertain significance. A positive result indicates that a disease‑causing variant has been found and can explain the patient’s symptoms or indicate an increased risk. A negative result means that the specific variant tested for was not found, but it does not exclude the possibility of an alternative genetic or non‑genetic cause. A result of uncertain significance means that a genetic variant has been found, but its clinical impact is not yet known. In such cases, further research or family studies may help clarify whether the variant is harmful or benign.
Interpreting a genetic test result requires context including the patient’s clinical history, family pedigree and the specific variant’s frequency in the general population. No genetic test alone can predict with certainty whether, when or how a condition will manifest. Penetrance and expressivity vary widely, and many factors influence the final outcome. Patients are encouraged to discuss the meaning of their results with their referring doctor and a genetic counsellor, who can explain the implications for themselves and their relatives.
The decision to undergo any genetic test, and what to do with the information it provides, is a personal one. A result may have implications not only for the patient but also for family members. For this reason, the healthcare team will discuss privacy, data sharing and the option to decline testing or not receive certain types of results, such as incidental findings unrelated to the original question.
This page is for general information purposes only. Diagnosis and treatment decisions should always be made by a qualified medical professional who has direct knowledge of the patient’s full clinical history and circumstances. No content on this page replaces a consultation with a doctor or genetic counsellor.