The utilization of polygenic risk score assessment in embryo selection is a pressing topic that commands earnest thought and investigation. Amidst the widespread debate, the authoritative Social, Ethical and Legal Issues Committee of the prestigious American College of Medical Genetics and Genomics (ACMG) has ventured forth with a newly contrived Points to Consider statement, with an earnest aim to augment the understanding of both healthcare professionals and patients regarding the probity, safety and practical application of preimplantation genetic testing for polygenic disorders (PGT-P).
A publication delineating, “Clinical Utility of Polygenic Risk Scores for Embryo Selection: A Points to Consider Statement of the American College of Medical Genetics and Genomics (ACMG),” has been showcased in the distinguished realm of genetic science titled, Genetics in Medicine.
At present, a select few commercial laboratories proffer PGT-P as an avant-garde methodology for prospective parents to meticulously screen for prevalent disorders, encompassing diabetes, cardiovascular disease, and specific types of cancer. Despite its growing popularity, a limited number of scientifically sound studies testify to the validity of this method; none to date have embarked on a comprehensive assessment of its clinical utility.
Theresa A. Grebe, MD, FACMG, the preeminent lead author of the study, has highlighted the obstacles that have thus far impeded the path of PGT-P. “To deliver reliable counsel to our patients regarding the safety and efficacy of this test, we diligently undertook a pervasive analysis of PGT-P.”
The brand-new ACMG Points to Consider statement outlines the current state of research centered around polygenic risk scores (PRS), and also explicitly lays out the pros and cons of PRS testing, the challenging aspects of in vitro fertilization that impact PGT in the setting of embryo selection, plus the hurdles encumbering the application of PRS data developed in adults to the area of embryo selection.
The collective authors jointly advise the implementation of further meticulous research and longitudinal studies preceding the responsible offering of PRS analysis for embryo screening. The risks harbored by PRS to the potential parent or future offspring currently outweigh any perceived benefits. This eminent team of researchers also propose that an inclusive group of stakeholders confront PGT-P’s more comprehensive social, ethical, and regulatory issues.
ACMG President, Susan Klugman, avers, “It remains vital that any novel testing modality possesses clinical utility, inflicts no harm to patients and follows ethical principles diligently.”
Unveiling the new tool, preimplantation genetic testing for polygenic disease risk, requires in vitro fertilization, and is proposed as an aid for embryo selection. “At this juncture in time, PGT-P is not recommended for clinical application, necessitating continuous research and societal guidelines,” cautions ACMG.
More Information:
Clinical Utility of Polygenic Risk Scores for Embryo Selection: A Points to Consider statement of the American College of Medical Genetics and Genomics (ACMG), Genetics in Medicine (2024). DOI: 10.1016/j.gim.2023.101052
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The American College of Medical Genetics and Genomics
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An authoritative pronouncement on the safety and efficacy of polygenic risk score assessment for embryo selection: Significant points to ponder (2024, February 23)
retrieved on February 23, 2024
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