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Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Carrier screening (CS) is a term used to describe a genetic test performed on individuals without family history of genetic disorders, to investigate the carrier status for pathogenic variants associated with multiple recessive conditions. The advent of next-generation sequencing enabled simultaneous CS for an increasing number of conditions; however, a consensus on which diseases to include in gene panels and how to best develop the provision of CS is far to be reached. Therefore, the provision of CS is jeopardized and inconsistent and requires solving several important issues.

Methods

In 2020, the Italian Society of Human Genetics (SIGU) established a working group composed of clinical and laboratory geneticists from public and private fields to elaborate a document to define indications and best practice of CS provision for couples planning a pregnancy.

Results

Hereby, we present the outcome of the Italian working group’s activity and compare it with previously published international recommendations (American College of Medical Genetics and Genomics (ACMG), American College of Obstetricians and Gynecologists (ACOG), and Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG)). We determine a core message on genetic counseling and nine main subject categories to explore, spanning from goals and execution to technical scientific, ethical, and socio-economic topics. Moreover, a level of agreement on the most critical points is discussed using a 5-point agreement scale, demonstrating a high level of consensus among the four societies.

Conclusions

This document is intended to provide genetic and healthcare professionals involved in human reproduction with guidance regarding the clinical implementation of CS.

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Acknowledgements

Authors would like to thank Prof. Leonardo Salviati for taking the time and effort necessary to review the manuscript.

Author information

Author notes

  1. Antonio Capalbo and Ilaria Gabbiato are joint first authors, and these authors equally contributed to this paper.

Authors and Affiliations

  1. Juno Genetics, Valencia, Spain

    Antonio Capalbo & Ludovica Picchetta

  2. Department of Lab Medicine, Unit of Clinical Genetics and Epidemiology University Hospital of Padova, Padua, Italy

    Ilaria Gabbiato & Daniela Zuccarello

  3. Igenomix Italia, Vicenza, Italy

    Silvia Caroselli

  4. Humanitas Research Hospital, Rozzano, Milan, Italy

    Pietro Cavalli

  5. UOSD Genetica Medica, AORN “San Pio” - P.O. “G. Rummo”, Benevento, Italy

    Fortunato Lonardo

  6. Genetica Medica, ARNAS Garibaldi, Catania, Italy

    Sebastiano Bianca

  7. Laboratorio Di Medicina Genomica – UILDM Università Degli Studi Di Roma “Tor Vergata”, Fondazione Santa Lucia-IRCCS, Rome, Italy

    Emiliano Giardina

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  1. Antonio Capalbo
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Corresponding author

Correspondence to Antonio Capalbo.

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Conflict of interest

A.C. is full time employee at Juno Genetics, providing reproductive genetic services. S.C. is full-time employee at Igenomix Italia, providing reproductive genetic services. L.P., I.G., P.C., F.L., S.B., E.G. and D.Z. have no conflict of interest to disclose.

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Capalbo, A., Gabbiato, I., Caroselli, S. et al. Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies. J Assist Reprod Genet 39, 2581–2593 (2022). https://doi.org/10.1007/s10815-022-02653-3

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