Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations

Antonio Capalbo, G. de Wert, Heidi Mertes, Liraz Klausner, Edith Coonen, Francesca Spinella, H. Van de Velde, Stéphane Viville, Karen Sermon, Nathalie Vermeulen, Todd Lencz, Shai Carmi

Human Reproduction Update · 2024

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Summary

This ESHRE-supported systematic review synthesises the emerging evidence base on polygenic embryo screening (PES/PGT-P), an increasingly available technology enabling genome-wide risk assessment of IVF embryos for complex diseases such as breast cancer, diabetes and hypertension. The authors provide an interdisciplinary appraisal of epidemiological validity, clinical utility, and ethical implications, whilst distinguishing between patient populations and offering guidance to healthcare professionals and policymakers on potential implementation. The review addresses a critical gap in comprehensive, principled evaluation of this contested technology, which is already deployed clinically in some countries despite ongoing debate.

Regional applicability

This review is relevant to United Kingdom reproductive medicine and healthcare policy, particularly for the Human Fertilisation and Embryology Authority (HFEA) and NHS reproductive genetics services considering whether and how to introduce or regulate PES. The authors' framework for distinguishing patient groups and weighing benefits against harms will inform UK-specific guidance development, though implementation decisions will depend on UK ethical frameworks and regulatory context.

Key measures

Arguments for and against PES; epidemiological data on polygenic disease risk prediction; attitudes of IVF patients, clinicians and the public; benefits and harms by patient group

Outcomes reported

The study reviewed epidemiological evidence, clinical applications, ethical considerations, and stakeholder attitudes regarding polygenic embryo screening (PES) in IVF. It synthesised arguments for and against PES introduction and distinguished between potential patient groups with differing risk-benefit profiles.

Theme
Policy, governance & rights
Subject
Other / interdisciplinary
Study type
Systematic Review
Study design
Systematic review
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1093/humupd/dmae012
Catalogue ID
SNmp6e7ae1-mxi5hh

Topic tags

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