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Updated: Sep 28, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P
Maria Siermann1, Olga Tšuiko2, Joris Robert Vermeesch3
1Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.
Insights
Preimplantation genetic testing for polygenic conditions (PGT-P) has limited ethical acceptability. Analysis of PGT for monogenic conditions (PGT-M) guidelines reveals challenges in decision-making and risk assessment for PGT-P.
Area of Science:
- Reproductive genetics
- Bioethics
- Genetic counseling
Background:
- Preimplantation genetic testing for polygenic conditions (PGT-P) is a new commercial service.
- There is a lack of specific guidance for PGT-P.
- Normative documents for PGT for monogenic conditions (PGT-M) offer a basis for evaluating PGT-P.
Purpose of the Study:
- To analyze PGT-M normative documents to inform recommendations for PGT-P.
- To understand current consensus and disagreements on the ethical acceptability of PGT-M.
- To compare the ethical considerations of PGT-M with PGT-P.
Main Methods:
- Systematic review of normative guidelines and recommendations on PGT-M.
- Analysis of 38 documents from national, European, and global advisory committees.
- Identification of themes related to PGT appropriateness and decision-making.
Main Results:
- Many PGT-M document aspects are applicable to PGT-P.
- PGT-P introduces increased ethical difficulties concerning severity, risk, autonomy, and informed decision-making due to screening for multiple polygenic conditions.
- Two key themes identified: appropriate uses of PGT and decision-making authority.
Conclusions:
- Ethical acceptability for PGT-P is limited based on PGT-M normative documents.
- Development of guidelines for PGT-P requires consideration of specific factors.
- Appropriateness of PGT-P necessitates careful ethical evaluation.
Purpose:
Recently, preimplantation genetic testing (PGT) for polygenic conditions (PGT-P) has been introduced commercially. In view of the lack of specific guidance on this development, we analyzed normative documents on PGT for monogenic conditions (PGT-M) to understand what we can learn from these documents for recommendations for PGT-P.
Methods:
We conducted a systematic review of normative guidelines and recommendations on PGT-M. The aim was to understand what the current consensus and disagreements are on ethical acceptability of PGT-M and how this compares with PGT-P.
Results:
We analyzed 38 documents by advisory committees at the national, European, and global level. In total, 2 themes were identified, which included the following: (1) what PGT is considered appropriate for and (2) who can make decisions regarding the use of PGT. Many aspects of PGT-M documents apply to PGT-P as well. Additional factors such as the fact that PGT-P screens for risk indications of multiple polygenic conditions increase ethical difficulties regarding severity, risk, autonomy, and informed decision-making.
Conclusion:
On the basis of PGT-M normative documents, we conclude that ethical acceptability for PGT-P is limited. Our findings present various factors that have to be considered for the development of guidelines and the appropriateness of PGT.
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