Polygenic Risk Scores: Emerging Reproductive Technology with Uncertain Clinical Utility and Ethical Implications

المفاهيم الأساسية

Polygenic risk scores (PRS) are being marketed as a tool to screen embryos during in vitro fertilization (IVF) for potential health risks, but mounting research suggests the technology has limited clinical benefit and raises ethical concerns.

الملخص

The article discusses the growing interest and use of polygenic risk scores (PRS) to screen embryos during in vitro fertilization (IVF). PRS analyze the number of risk-increasing and risk-decreasing genetic variants in an embryo biopsy to estimate the chance of developing certain conditions like diabetes, cardiovascular disease, and cancer.

While nearly three-quarters of US adults support using PRS for embryo screening, multiple studies have found the technology has limited clinical utility for preimplanted embryos. Researchers argue the predictive power of PRS is currently "worthless" and there is insufficient evidence to support its clinical use for embryo selection.

Concerns have been raised that parents may overlook healthy, viable embryos due to minimal predicted risks from PRS. Professional medical organizations, like the American College of Medical Genetics, recommend against offering PRS testing for embryo selection at this time.

Companies offering PRS services claim the technology can provide valuable insights to help patients select healthier embryos. However, experts argue these companies should clearly communicate the limitations and inaccuracies of the results. Thorough genetic counseling before and after PRS testing is also recommended to help patients make informed decisions.

Overall, PRS remains a niche service in the IVF field, as many patients are more focused on overcoming infertility than genetic predictions. The article highlights the need for further technological improvements and a broader societal debate before widespread adoption of this emerging reproductive technology.

الإحصائيات

Nearly three quarters of US adults support using PRS to screen embryos during IVF.
PRS measures the chance of developing conditions like diabetes, cardiovascular disease, and certain cancers.
Research has found PRS has limited clinical benefit for preimplanted embryos, with one study concluding the technology is currently "worthless" for this application.

اقتباسات

"Our results were so conclusive that we can confidently say PRS scores in embryos are currently worthless. There is no point in further research until the technology improves significantly."
"At this time, there is insufficient evidence for the clinical utility of PRS testing for embryo selection. It should not be offered as a clinical service."
"For example, if one embryo has a 0.5% increased risk for diabetes, is that a reason not to use the embryo?"

الرؤى الأساسية المستخلصة من

Polygenic Risk Scores: New Frontier in IVF or Just a Hype?

by Lara في www.medscape.com 07-19-2024

https://www.medscape.com/viewarticle/genetic-testing-ivf-embryo-selection-deemed-unreliable-2024a1000db7

استفسارات أعمق

How might the ethical and social implications of PRS for embryo screening evolve as the technology improves?

As the technology behind Polygenic Risk Scores (PRS) for embryo screening advances, the ethical and social implications are likely to become more nuanced. One key aspect that may evolve is the consideration of how PRS results are interpreted and communicated to prospective parents. With improved accuracy and reliability, there will be a greater need for clear guidelines on how to convey the information in a way that is understandable and non-alarming. Additionally, as the predictive power of PRS increases, there may be concerns about the potential for discrimination based on genetic predispositions. This could lead to discussions around genetic determinism and the impact on societal attitudes towards individuals with certain genetic profiles. Furthermore, the availability and affordability of PRS testing may raise questions about equity and access, potentially widening existing health disparities if not carefully managed. Overall, as the technology improves, there will be a growing need for robust ethical frameworks and social policies to address these complex issues.

What alternative approaches or technologies could be explored to support prospective parents in having healthy children without the limitations of current PRS?

In light of the limitations of current Polygenic Risk Scores (PRS) for embryo screening, there are several alternative approaches and technologies that could be explored to assist prospective parents in ensuring the health of their children. One promising avenue is the advancement of whole-genome sequencing, which provides a comprehensive analysis of an embryo's genetic makeup, allowing for a more detailed assessment of potential health risks. This approach could offer a more accurate and personalized evaluation compared to PRS, although it may come with its own set of challenges, such as cost and interpretation of vast amounts of genetic data. Another option is the utilization of gene editing technologies like CRISPR-Cas9 to correct genetic abnormalities in embryos before implantation. While still in the experimental stage, gene editing holds the potential to address genetic disorders at the root level, offering a more proactive approach to ensuring the health of future generations. Additionally, advancements in epigenetic profiling and environmental risk assessment could provide valuable insights into how lifestyle and environmental factors influence health outcomes, complementing genetic information to offer a more holistic view of health risks.

What role should regulatory bodies play in guiding the responsible development and deployment of emerging reproductive technologies like PRS?

Regulatory bodies have a crucial role to play in overseeing the responsible development and deployment of emerging reproductive technologies like Polygenic Risk Scores (PRS) for embryo screening. Firstly, regulatory agencies should establish clear guidelines and standards for the validation, accuracy, and clinical utility of PRS testing to ensure that it meets rigorous scientific and ethical criteria before being offered to patients. This includes setting requirements for transparency in reporting results, informed consent procedures, and data privacy protection to safeguard the interests of individuals undergoing genetic screening. Moreover, regulatory bodies should monitor the commercialization and marketing of PRS services to prevent misleading claims or exploitation of vulnerable populations. Additionally, regulatory oversight is essential in addressing issues of equity and access to genetic testing, ensuring that all individuals have fair and equal opportunities to benefit from these technologies. By setting and enforcing regulatory frameworks, authorities can promote the responsible and ethical use of emerging reproductive technologies while safeguarding the well-being of individuals and society as a whole.