Israel is one of the few countries with a written national pathway for relatives of someone with inherited prion disease. A panel of 23 professionals from six centres met in January 2025, with 29 contributing in total, and published the framework in 2026.
Who can ask for counselling
Any relative of a person with genetic CJD, or with apparently sporadic CJD, who wants testing should have access to counselling. That is the framework’s first recommendation.
The panel also decided something it is worth knowing they decided: it rejected offering testing to people proactively on the basis of their family origins, because of the stigma and unnecessary distress that would cause. Nobody should feel approached or pushed.
Counselling can be given by a medical geneticist, a genetic counsellor, or a neurologist who knows the disease.
How the process runs
The framework sets out a deliberately unhurried sequence.
Before testing, a structured mental health assessment is done in person by a psychiatrist or clinical psychologist, ideally one familiar with these diseases. The assessor gives written confirmation that the person is ready for a positive result. Where there are concerns, testing is usually postponed with support rather than refused.
From the first counselling session to the blood sample should take at least a month. After a recent bereavement, or where someone is in acute distress, the panel advises considering a delay of at least six months. Testing is done in a certified genetic laboratory, and for the E200K variant usually by targeted Sanger sequencing.
Results go to the referring team, and are given in person by the same clinician who provided the first counselling. Ask for that clinician’s name and keep it.
The panel advised strongly against testing anyone under 18. For young adults, for example between 18 and 25, it asks for careful discussion first. It notes that disease caused by the E200K variant rarely appears before the age of 40.
Choosing not to test is a valid choice, and it stays open.
Having children
Preimplantation genetic testing, which tests embryos created by IVF, is widely available in Israel and publicly funded for up to two healthy children.
There are two forms. Direct testing looks for the family’s known variant in each embryo. Exclusion testing selects embryos that did not inherit the at-risk chromosome from the affected grandparent, without the parent learning their own status, and is offered at tertiary centres to first and second degree relatives.
Testing during pregnancy is also possible, by chorionic villus sampling from about 11 to 12 weeks or amniocentesis from about 17 to 23 weeks. The panel recommends deciding all of this case by case with the family, and notes that decisions after a positive result raise difficult ethical questions. Those conversations belong with a genetics service.
What is missing
The framework names its own gap. There is no structured national programme of support after a result, so people rely mainly on their health fund’s psychological services or on research platforms. Its ninth recommendation asks health services and policymakers to build one.
No Israeli prion disease family association appears in the CJD International Support Alliance directory. Groups in other countries will often talk to families anywhere, and support groups by country lists them.
Related pages: counselling first, the right not to know, India, United Arab Emirates and the countries hub.
Sources for this page
- Shir D, Bregman N, Bar David A and others. A practice framework for genetic testing in asymptomatic relatives of patients with Creutzfeldt-Jakob disease: experience and insights from Israel. European Journal of Neurology 2026;33(6):e70649
- CJD International Support Alliance: directory of patient associations