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Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population

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Abstract

Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier Screening Program has been offered routinely and free of charge to all Israelis of reproductive age, personalized based on religion, ethnicity, and village/tribe where a disorder is frequent. This study evaluated the impact of two educational tools on an informed choice on RGCS uptake and satisfaction with counselling within a heterogeneous population in northern Israel. Participants from diverse sociodemographic population groups were randomly assigned to watch an animated film, read a booklet conveying the same information, or receive no information before counselling for RGCS, and asked to complete pre- and post-counselling questionnaires. A higher informed-decision rate was demonstrated in the film (n=93/141, 66%) and booklet (n=88/131, 67%) groups vs. the non-intervention group (n=62/143, 43%) (P<0.001), assessed by the Multidimensional Measure of Informed Choice. Multivariate logistic regression analysis revealed that allocation to an intervention group, Jewish ethnicity and higher education level, best predicted informed choice. Most participants expressed high levels of satisfaction with the counselling process, regardless of group assignment. While only a minority of participants reported seeking information prior to visiting the clinic, the pre-counselling information interventions were well accepted. Pre-counselling self-learning educational tools should be promoted, easily available, and adjusted linguistically and culturally to targeted populations, to avoid unwanted “automatic” compliance of tested individuals and maximize the potential of informed decision-making. Our study can be applied to other countries where majority and minority ethnic groups access genetic services.

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Data availability

The data that support the findings of this study are available from the corresponding author upon request.

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Acknowledgements

The authors would like to express their gratitude to the genetic counsellors, medical geneticist, and specialists in science education involved in this study for their contributions to the project. Furthermore, they would like to thank all participants who took part in the study.

Author information

Authors and Affiliations

  1. Rappaport Faculty of Medicine, Technion, Haifa, Israel

    Chen Gafni-Amsalem, Olfat Aboleil-Zoubi & Stavit A. Shalev

  2. Genetics Institute, Emek Medical Center, 18101, Afula, Israel

    Chen Gafni-Amsalem, Olfat Aboleil-Zoubi, Elena Chervinsky, Ola Aleme, Morad Khayat, Husam Bashir, Lilach Peled Perets, Efrat Mamluk, Shadia Hakrosh, Shoshi Kurtzman, Liron Tamir & Stavit A. Shalev

  3. Faculty of Education in Science and Technology, Technion, Haifa, Israel

    Ayelet Baram-Tsabari

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  1. Chen Gafni-Amsalem
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  2. Olfat Aboleil-Zoubi
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  3. Elena Chervinsky
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Contributions

Conceptualization: CGA, OAZ, ABT, SAS; formal analysis: CGA; funding acquisition: SAS; methodology: CGA, OAZ, ABT, SAS; investigating: CGA; project administration: CGA, SAS, ABT; supervision: SAS, ABT; validation: CGA, OAZ, EC, UA, MK, HB, LPP, EM, SH, SK, LT, ABT, SAS; writing—original draft: CGA; writing—review and editing: CGA, OAZ, EC, UA, MK, HB, LPP, EM, SH, SK, LT, ABT, SAS.

Corresponding author

Correspondence to Chen Gafni-Amsalem.

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Competing interests

The authors declare no competing interests.

Ethics declarations

The study protocol was approved by the ethical committee of the Emek Medical Center, Afula, following the Helsinki Declaration. Research number EMC-0010-16. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5).

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Informed consent was obtained from all patients included in the study.

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Gafni-Amsalem, C., Aboleil-Zoubi, O., Chervinsky, E. et al. Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population. J Community Genet 15, 137–146 (2024). https://doi.org/10.1007/s12687-023-00694-4

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