Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations
Machine learning methods applied to large genomic datasets (such as those used in GWAS) have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals who are at highly elevated risk for important disease conditions, such as coronary artery disease (CAD), diabetes, hy...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-07-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/12/8/1105 |
| _version_ | 1797523778201190400 |
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| author | Laurent C. A. M. Tellier Jennifer Eccles Nathan R. Treff Louis Lello Simon Fishel Stephen Hsu |
| author_facet | Laurent C. A. M. Tellier Jennifer Eccles Nathan R. Treff Louis Lello Simon Fishel Stephen Hsu |
| author_sort | Laurent C. A. M. Tellier |
| collection | DOAJ |
| description | Machine learning methods applied to large genomic datasets (such as those used in GWAS) have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals who are at highly elevated risk for important disease conditions, such as coronary artery disease (CAD), diabetes, hypertension, breast cancer, and many more. PRSs have been validated in large population groups across multiple continents and are under evaluation for widespread clinical use in adult health. It has been shown that PRSs can be used to identify which of two individuals is at a lower disease risk, even when these two individuals are siblings from a shared family environment. The relative risk reduction (RRR) from choosing an embryo with a lower PRS (with respect to one chosen at random) can be quantified by using these sibling results. New technology for precise embryo genotyping allows more sophisticated preimplantation ranking with better results than the current method of selection that is based on morphology. We review the advances described above and discuss related ethical considerations. |
| first_indexed | 2024-03-10T08:47:53Z |
| format | Article |
| id | doaj.art-8a150931c45c4807ab390d2aeab3c79d |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T08:47:53Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-8a150931c45c4807ab390d2aeab3c79d2023-11-22T07:44:35ZengMDPI AGGenes2073-44252021-07-01128110510.3390/genes12081105Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical ConsiderationsLaurent C. A. M. Tellier0Jennifer Eccles1Nathan R. Treff2Louis Lello3Simon Fishel4Stephen Hsu5Department of Physics and Astronomy, Michigan State University, East Lansing, MI 48824, USAGenomic Prediction, Inc., North Brunswick, NJ 08902, USAGenomic Prediction, Inc., North Brunswick, NJ 08902, USADepartment of Physics and Astronomy, Michigan State University, East Lansing, MI 48824, USACARE Fertility Group, Nottingham NG8 6PZ, UKDepartment of Physics and Astronomy, Michigan State University, East Lansing, MI 48824, USAMachine learning methods applied to large genomic datasets (such as those used in GWAS) have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals who are at highly elevated risk for important disease conditions, such as coronary artery disease (CAD), diabetes, hypertension, breast cancer, and many more. PRSs have been validated in large population groups across multiple continents and are under evaluation for widespread clinical use in adult health. It has been shown that PRSs can be used to identify which of two individuals is at a lower disease risk, even when these two individuals are siblings from a shared family environment. The relative risk reduction (RRR) from choosing an embryo with a lower PRS (with respect to one chosen at random) can be quantified by using these sibling results. New technology for precise embryo genotyping allows more sophisticated preimplantation ranking with better results than the current method of selection that is based on morphology. We review the advances described above and discuss related ethical considerations.https://www.mdpi.com/2073-4425/12/8/1105genomicscomplex trait predictionPRSin vitro fertilizationgenetic engineering |
| spellingShingle | Laurent C. A. M. Tellier Jennifer Eccles Nathan R. Treff Louis Lello Simon Fishel Stephen Hsu Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations Genes genomics complex trait prediction PRS in vitro fertilization genetic engineering |
| title | Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations |
| title_full | Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations |
| title_fullStr | Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations |
| title_full_unstemmed | Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations |
| title_short | Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations |
| title_sort | embryo screening for polygenic disease risk recent advances and ethical considerations |
| topic | genomics complex trait prediction PRS in vitro fertilization genetic engineering |
| url | https://www.mdpi.com/2073-4425/12/8/1105 |
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