Fig. 1: Phenotypic and dysmorphic features of patient 1 (A and B),...
Health Ministry Mistakenly Omits Genetic Disease From Prenatal Screening List - Report
Israel's Health Ministry mistakenly excluded a genetic disease from the official list of conditions tested for in state-funded prenatal genetic testing, potentially affecting thousands of couples who may be unaware they are carriers, KAN News reported on Thursday.
Israel provides free genetic screening tests for couples planning to have children to see whether either partner carries genetic mutations that could endanger a fetus, according to the report.
Usually, the Health Ministry will provide a list of specific diseases that genetic institutes should test for before pregnancy. However, the ministry neglected to include a specific disease on this list, resulting in the omission of tests for the mutation, the report said.
The disease in question can cause impairments in speech, cognition, and concentration, KAN added.
A pregnant woman holding an ultrasound image (credit: SHUTTERSTOCK) Mistake recognizedThe mistake reportedly affected genetic testing carried out between November 2024 and January 2025. It was identified by the Genetic Institute at Sheba Medical Center, which notified the Health Ministry, who corrected the mistake.
Following the discovery, the Health Ministry reportedly responded, "Out of the thousands of tests performed, 58 carriers were identified, but no couple was found in which both partners were carriers."
The KAN report added that the Health Ministry also said it "immediately instructed genetic laboratories in hospitals and health funds to rectify the testing error. The mistake involved only one mutation in a specific variant of the disease included in the screening tests. Additionally, the ministry ordered all samples collected between November 2024 and January 2025 to undergo retroactive testing."
Bedouin, Arab Israeli Sector More Likely To Suffer Genetic Diseases
Genetic diseases in the Arab-Israeli sector – especially among Bedouin – cause 2.7 times more infant deaths than in the Jewish sector. Most of the disorders can't be cured or even treated successfully – resulting in human suffering and heavy medical costs.
The issue was raised in the Knesset Health Committee's recent discussion on genetic diseases in Arab communities. Between the years 2013 and 2023, there was a trend of decreasing mortality rates, but the rate for 2023 still stands at 5.2 per thousand births compared to 1.9 in the general Israeli population.
The discussion regarding the high rate of genetic diseases in Arab society was initiated by the committee's acting chairman, MK Yasir Mahmoud Hujeirat, an Israeli Arab geneticist and politician who was elected to the Knesset for the United Arab List in the 2022 elections.
He stressed the gaps in access to health services in this society, the shortage of clinics and tipat halav (well-baby) clinics, and the lack of standards for physicians who receive them.
But the main causes of the genetic disorders are consanguineous marriages – inbreeding, in which first cousins marry and have children, and the high rate of, insufficient response to screening tests, and language barriers in genetic clinics.
Illustrative image of scientific research. (credit: FLICKR)The MK has tried to create a database for genetic diseases in Israel with the accompanying need for information privacy and medical confidentiality for patients.
Despite the fact that this type of marriage is discouraged by the major religions, recent studies have estimated that more than a quarter of marriages in the Israeli Arab population (25.9%) are consanguineous.
Among Arabs in Judea and Samaria, it rises to 44.3%, among some of the highest rates in the world. A 2017 article in Reproductive Health Journal reported that up to almost two-thirds of marriages are consanguineous in several Arab countries, such as Jordan, Kuwait, and Saudi Arabia, reaching up to 80% in Egypt.
The role of women's educationOne Israeli subgroup is the Israeli Bedouin in the Negev, a semi-nomadic traditional patriarchal society. Women's education plays a crucial role in the choice of marriage model; a woman with little formal education is more likely to be in a consanguineous marriage.
The establishment of a database is needed to provide reliable and trustworthy information on these diseases to formulate a policy for dealing with them, said Dr. Amihood Singer, head of the Health Ministry's genetics department. "There are many genetic tests in the health basket that can identify about 300 diseases – many of which are common in Arab society – and there are also tests for couples who are carriers, tests during pregnancy, and child health checks. These should be made accessible, but currently, less than 15% of the Israeli Arab sector undergoes genetic screening tests."
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DR. NOUR ABDELHADI, head of implementation for the Health Ministry's program for Arab society, said that in the past decade, the genetic causes of many diseases have been discovered worldwide, including in Israel and in Arab society in particular.
The discovery of the genetic factor allows for more accurate counseling and referral for tests in order to avoid the birth of a sick baby. In light of this, genetic institutes report that there is a decrease in the prevalence of genetic diseases, but it is still high among Arab and Bedouin society relative to the general population.
Abdelhadi noted that the main causes of infant mortality in developed countries up to 28 days after birth are congenital malformations, prematurity, and other conditions that arise during pregnancy; in some cases, congenital malformations are due to genetic diseases.
She said that among Muslims, on average, about two more babies died from birth defects per thousand live births than among Jews and others.
According to ministry officials, 43% of Arab infant deaths in 2017-2019 were caused by birth defects, compared to 34% among Jews and others.
Even higher infant mortality rates are recorded among specific groups in Arab society, such as the Bedouin in the Negev and the Druze in the Levant and Golan Heights, where rates of genetic diseases and birth defects are particularly high.
MK Youssef Atauna (Hadash-Ta'al) claimed a low level of service in the illegal and unrecognized Bedouin villages in the Negev and demanded recognition of these villages and upgrading of the clinics there.
MK Ahmed Tibi (also Hadash-Ta'al), who is a gynecologist/obstetrician by profession, also complained about the acute shortage of specialist doctors in this sector, and recommended proactive measures by the nurse at the local Tipat Halav to detect these diseases.
There is a lack of awareness of the danger in consanguineous marriages between cousins and the fact that many couples turn out to be disease carriers, said Prof. Orna Staretz-Chacham, director of the Center for Rare Diseases at Soroka University Medical Center in Beersheba.
For example, there are about 700 Israeli children and adults suffering from the lung disease cystic fibrosis – and over a third of them belong to Arab society, even though Arabs account for only about a fifth of the general population.
Many families have more than one child or adult with the disease. There are new drugs that can significantly improve the quality of life and slow deterioration of the disease that should be made available to victims to help alleviate their suffering.
Response To ACMG Guideline: Carrier Screening In Individuals Of Ashkenazi Jewish Decent
Cite this articleGross, S., Pletcher, B., Monaghan, K. Et al. Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent. Genet Med 10, 463 (2008). Https://doi.Org/10.1097/GIM.0b013e3181776242
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