Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia
Abstract Background A number of countries are leading the way in creating regulatory frameworks for preimplantation genetic testing (PGT). Among these countries, a point of consensus is that PGT may be used to avoid the birth of a child with a serious genetic disease. However, standards for evaluati...
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| Format: | Article |
| Language: | English |
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BMC
2022-05-01
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| Series: | Human Genomics |
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| Online Access: | https://doi.org/10.1186/s40246-022-00390-3 |
| _version_ | 1817995776612106240 |
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| author | Kate Nakasato Beverley Anne Yamamoto Kazuto Kato |
| author_facet | Kate Nakasato Beverley Anne Yamamoto Kazuto Kato |
| author_sort | Kate Nakasato |
| collection | DOAJ |
| description | Abstract Background A number of countries are leading the way in creating regulatory frameworks for preimplantation genetic testing (PGT). Among these countries, a point of consensus is that PGT may be used to avoid the birth of a child with a serious genetic disease. However, standards for evaluating disease severity in this context are not always clear. Considering the numerous medical and social implications of defining a standard for serious disease, our study sought out to better understand how disease severity for PGT is being defined by analyzing and comparing the regulatory landscapes for PGT in various countries. Methods We carried out a multi-case study analysis using policy documents from the UK, Western Australia, and Japan. Documentary analysis was used to analyze and compare these documents in terms of medical indications for PGT, evaluation methods of applications for PGT, and review frameworks used during the evaluation process, which includes the specific medical and social factors that are considered. Results Within our three case studies, medical indications for PGT are based on an estimated risk of the woman giving birth to a child with a genetic abnormality with known clinical deficits. Evaluation methods for approving applications for PGT include reference to a pre-approved list of genetic conditions (the UK) and case-by-case reviews (all case studies). Review frameworks for case-by-case reviews include reference to a list of considered factors (the UK and Western Australia) and a definition statement of disease severity (Japan), which provide insight into interpretations of disease severity in each context. Conclusions The results of this study point to the possible medical and social impacts of PGT regulatory frameworks on multiple stakeholders. Furthermore, it suggests that impacts in this case are not only caused by whether PGT is permitted or not, but also by the circumstances under which it is allowed and how decisions regarding its approval are made. Our results may serve as valuable insights for countries that already have established policy for PGT but are considering revision, countries that are without policy, and for discussions on related genetic and reproductive technologies. |
| first_indexed | 2024-04-14T02:12:41Z |
| format | Article |
| id | doaj.art-f224b2ab0e804c14826f084b0d8eae47 |
| institution | Directory Open Access Journal |
| issn | 1479-7364 |
| language | English |
| last_indexed | 2024-04-14T02:12:41Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj.art-f224b2ab0e804c14826f084b0d8eae472022-12-22T02:18:24ZengBMCHuman Genomics1479-73642022-05-0116111210.1186/s40246-022-00390-3Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western AustraliaKate Nakasato0Beverley Anne Yamamoto1Kazuto Kato2Department of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka UniversityGraduate School of Human Sciences, Osaka UniversityDepartment of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka UniversityAbstract Background A number of countries are leading the way in creating regulatory frameworks for preimplantation genetic testing (PGT). Among these countries, a point of consensus is that PGT may be used to avoid the birth of a child with a serious genetic disease. However, standards for evaluating disease severity in this context are not always clear. Considering the numerous medical and social implications of defining a standard for serious disease, our study sought out to better understand how disease severity for PGT is being defined by analyzing and comparing the regulatory landscapes for PGT in various countries. Methods We carried out a multi-case study analysis using policy documents from the UK, Western Australia, and Japan. Documentary analysis was used to analyze and compare these documents in terms of medical indications for PGT, evaluation methods of applications for PGT, and review frameworks used during the evaluation process, which includes the specific medical and social factors that are considered. Results Within our three case studies, medical indications for PGT are based on an estimated risk of the woman giving birth to a child with a genetic abnormality with known clinical deficits. Evaluation methods for approving applications for PGT include reference to a pre-approved list of genetic conditions (the UK) and case-by-case reviews (all case studies). Review frameworks for case-by-case reviews include reference to a list of considered factors (the UK and Western Australia) and a definition statement of disease severity (Japan), which provide insight into interpretations of disease severity in each context. Conclusions The results of this study point to the possible medical and social impacts of PGT regulatory frameworks on multiple stakeholders. Furthermore, it suggests that impacts in this case are not only caused by whether PGT is permitted or not, but also by the circumstances under which it is allowed and how decisions regarding its approval are made. Our results may serve as valuable insights for countries that already have established policy for PGT but are considering revision, countries that are without policy, and for discussions on related genetic and reproductive technologies.https://doi.org/10.1186/s40246-022-00390-3Preimplantation genetic testingDisease severityGenetic conditionsReproductive technologiesSocial implications |
| spellingShingle | Kate Nakasato Beverley Anne Yamamoto Kazuto Kato Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia Human Genomics Preimplantation genetic testing Disease severity Genetic conditions Reproductive technologies Social implications |
| title | Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia |
| title_full | Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia |
| title_fullStr | Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia |
| title_full_unstemmed | Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia |
| title_short | Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia |
| title_sort | evaluating standards for serious disease for preimplantation genetic testing a multi case study on regulatory frameworks in japan the uk and western australia |
| topic | Preimplantation genetic testing Disease severity Genetic conditions Reproductive technologies Social implications |
| url | https://doi.org/10.1186/s40246-022-00390-3 |
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