Expanded targeted preconception screening panel in Israel: findings and insights

Adi Reches, Vered Ofen Glassner, Nurit Goldstein, Josepha Yeshaya, Galit Delmar, Ellie Portugali, Tova Hallas, Amit Weinstein, Alina Kurolap, Michal Berkenstadt, Tal Mantsour, Liat Abu-Gutstein, Liat Ries-Levavi, Haike Reznik-Wolf, Doron Moshe Behar, Yuval Yaron, Elon Pras, Hagit Baris Feldman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background We aimed to analyse the efficacy and added value of a targeted Israeli expanded carrier screening panel (IL-ECSP), beyond the first-tier test covered by the Israeli Ministry of Health (IMOH) and the second-tier covered by the Health Maintenance Organisations (HMOs). Methods A curated variant-based IL-ECSP, tailored to the uniquely diverse Israeli population, was offered at two tertiary hospitals and a major genetics laboratory. The panel includes 1487 variants in 357 autosomal recessive and X-linked genes. Results We analysed 10 115 Israeli samples during an 18-month period. Of these, 6036 (59.7%) were tested as couples and 4079 (40.3%) were singles. Carriers were most frequently identified with mutations in the following genes: GJB2/GJB6 (1:22 allele frequency), CFTR (1:28), GBA (1:34), TYR (1:39), PAH (1:50), SMN1 (1:52) and HEXA (1:56). Of 3018 couples tested, 753 (25%) had no findings, in 1464 (48.5%) only one partner was a carrier, and in 733 (24.3%) both were carriers of different diseases. We identified 79 (2.6%) at-risk couples, where both partners are carriers of the same autosomal recessive condition, or the female carries an X-linked disease. Importantly, 48.1% of these would not have been detected by ethnically-based screening tests currently provided by the IMOH and HMOs, for example, variants in GBA, TYR, PAH and GJB2/GJB6. Conclusion This is the largest cohort of targeted ECSP testing, tailored to the diverse Israeli population. The IL-ECSP expands the identification of couples at risk and empowers their reproductive choices. We recommend endorsing an expanded targeted panel to the National Genetic Carrier Screening programme.

Original languageEnglish
Pages (from-to)783-787
Number of pages5
JournalJournal of Medical Genetics
Volume61
Issue number8
DOIs
StatePublished - 19 Jul 2024

Keywords

  • Genetic Carrier Screening
  • Genetic Counseling
  • Inborn Genetic Diseases

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