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Koby Natan/TPS-IL on 27 March, 2023
Knesset Committee Mulls National Registry for Rare Genetic Diseases
Jerusalem, 18 November, 2024 (TPS-IL) -- Around 8,500 babies are born each year in Israel with rare genetic diseases, according to data presented to the Knesset’s Health Committee on Monday, which is considering establishing a national registry of rare genetic diseases.
The proposed registry would compile anonymized data to track the prevalence of rare diseases, facilitate early diagnosis, and optimize health policies.
“Rare diseases are often chronic and life-threatening,” committee chairman MK Yoni Meshariki said. “Families face unique challenges, including delayed diagnoses, a lack of specialists, and the high cost of care. A national registry is essential for systematic monitoring, which will help ease their burden and improve outcomes.”
Prof. Little Keenan-Booker, head of the National Registry for Disease Control, told lawmakers the registry would centralize information, allowing healthcare providers to assess risks, study disease progression, and evaluate potential interventions. The data would also facilitate international collaboration in research.
“These conditions often require expensive, specialized tests and a high degree of clinical suspicion,” Keenan-Booker explained. “The limited availability of data and the small number of cases make it challenging to develop targeted treatments.”
In response to advocacy groups criticizing concerns about potential privacy violations, Zvi Sahaik, head of the Health Ministry’s computerization project, told the committee, “The Ministry will not store identifiable information such as names or ID numbers. All data will be encrypted, with access strictly limited to authorized personnel.”
According to the Knesset’s Information and Research Center, Israel currently does not have an official definition for rare diseases. The vast majority are genetic, and the rest of the diseases may be caused by problems with the immune system, infections, allergies, deterioration of tissues and organs in the body, or damage to the development of the fetus. According to estimates, the number of rare diseases in the world is between about 6,000 and about 8,000 diseases, and they are mostly severe chronic diseases that worsen during life.
The Ministry of Health does not currently have data on the prevalence of rare diseases, but it estimates that 6-8% of the population suffers from some kind of rare disease, which means that there are between about 567,000-756,000 people in Israel, including 50,000 children affected by a rare disease. Every year, about 8,500 babies in Israel are born with a rare genetic disease.
The Health Ministry did not clarify on what definition its estimates were based on.
The high prevalence is partly attributed to limited prenatal screening in some communities and marriages between people who are related.
The committee will continue discussions with healthcare providers, researchers, and patient advocacy groups to refine the proposal before presenting it for legislative approval.
“This initiative represents hope for better diagnoses, more effective treatments, and ultimately, improved quality of life for those affected by rare diseases,” Meshariki said.
