News | The Ethical Test of Scientific Progress: Polygenic Testing Sparks Debate
As emerging technologies advance, preimplantation genetic testing (PGT) of human embryos is becoming increasingly common and accessible. However, considerable uncertainty remains about how much this technology can meaningfully change medicine and fertility care. At the same time, the seriousness and urgency of the related ethical issues are widely underestimated.
In a commentary published in Nature Medicine, Josephine Johnston, Director of Research and a Research Scholar at The Hastings Center, and Lucas J. Matthews, an Assistant Professor at Columbia University and a Presidential Scholar at The Hastings Center, note that the use of polygenic risk scores (PRS) in in vitro fertilization (IVF) raises far-reaching ethical challenges.
Polygenic Testing: A Complex Ethical Reality Behind Technological Progress
A polygenic risk score is a statistical method that combines the effects of many small genetic variants to estimate an individual's relative risk of common diseases. Although the technology may help predict certain health risks, it still has many practical limitations.
Johnston and Matthews identify several key concerns:
Ancestry bias affects accuracy: Current PRS models are based mainly on genetic data from people of European ancestry and perform significantly less well in non-European populations. This bias raises questions about the technology's global applicability.
Limited patient understanding and inadequate communication: In clinical practice, many patients know little about the test's limitations and potential risks, while fertility clinics often lack the time and resources for a full explanation. Ethical and clinical implications are especially easy to overlook when testing is bundled into standard treatment packages or presented as routine.
Potential discrimination: Like existing single-gene tests, polygenic testing involves selecting embryos based on genetic risk. This selection may be interpreted as a form of discrimination against particular diseases, disabilities, or even genetic traits.
Wider Use Is Approaching, and Ethical Challenges Cannot Be Ignored
The commentary responds to a recent Nature Genetics study that proposed a polygenic test for 12 common diseases, potentially enabling widespread clinical use.
Johnston and Matthews note that past discussions of polygenic embryo testing have largely been confined to professional and academic circles or to individual decisions faced by a small number of families. As molecular genotyping advances and testing costs fall substantially, these issues will soon become practical realities for clinicians and many patients.
Of particular concern, the social justice issues become more acute and complex when such testing is used to assess social traits such as educational attainment or cognitive ability.
A Call for Transparent Review: Dual Responsibilities in Science and Ethics
The Nature Medicine commentary calls on the global medical community, policymakers, and the public to review polygenic embryo testing more cautiously and comprehensively. With ethical guidance lagging behind technological development, promoting the technology without considering potential social risks could have far-reaching consequences.
The authors emphasize, "We must ensure that all emerging technologies are applied only when they are scientifically valid and ethically acceptable. Otherwise, the effects will extend beyond individual patients to society's entire value system."
News | The Ethical Test of Scientific Progress: Polygenic Testing Sparks Debate
News | The Ethical Test of Scientific Progress: Polygenic Testing Sparks Debate
As emerging technologies advance, preimplantation genetic testing (PGT) of human embryos is becoming increasingly common and accessible. However, considerable uncertainty remains about how much this technology can meaningfully change medicine and fertility care. At the same time, the seriousness and urgency of the related ethical issues are widely underestimated.
In a commentary published in Nature Medicine, Josephine Johnston, Director of Research and a Research Scholar at The Hastings Center, and Lucas J. Matthews, an Assistant Professor at Columbia University and a Presidential Scholar at The Hastings Center, note that the use of polygenic risk scores (PRS) in in vitro fertilization (IVF) raises far-reaching ethical challenges.
Polygenic Testing: A Complex Ethical Reality Behind Technological Progress
A polygenic risk score is a statistical method that combines the effects of many small genetic variants to estimate an individual's relative risk of common diseases. Although the technology may help predict certain health risks, it still has many practical limitations.
Johnston and Matthews identify several key concerns:
Ancestry bias affects accuracy: Current PRS models are based mainly on genetic data from people of European ancestry and perform significantly less well in non-European populations. This bias raises questions about the technology's global applicability.
Limited patient understanding and inadequate communication: In clinical practice, many patients know little about the test's limitations and potential risks, while fertility clinics often lack the time and resources for a full explanation. Ethical and clinical implications are especially easy to overlook when testing is bundled into standard treatment packages or presented as routine.
Potential discrimination: Like existing single-gene tests, polygenic testing involves selecting embryos based on genetic risk. This selection may be interpreted as a form of discrimination against particular diseases, disabilities, or even genetic traits.
Wider Use Is Approaching, and Ethical Challenges Cannot Be Ignored
The commentary responds to a recent Nature Genetics study that proposed a polygenic test for 12 common diseases, potentially enabling widespread clinical use.
Johnston and Matthews note that past discussions of polygenic embryo testing have largely been confined to professional and academic circles or to individual decisions faced by a small number of families. As molecular genotyping advances and testing costs fall substantially, these issues will soon become practical realities for clinicians and many patients.
Of particular concern, the social justice issues become more acute and complex when such testing is used to assess social traits such as educational attainment or cognitive ability.
A Call for Transparent Review: Dual Responsibilities in Science and Ethics
The Nature Medicine commentary calls on the global medical community, policymakers, and the public to review polygenic embryo testing more cautiously and comprehensively. With ethical guidance lagging behind technological development, promoting the technology without considering potential social risks could have far-reaching consequences.
The authors emphasize, "We must ensure that all emerging technologies are applied only when they are scientifically valid and ethically acceptable. Otherwise, the effects will extend beyond individual patients to society's entire value system."
Source:
Compiled from online sources