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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Decision-making criteria in polygenic embryo screening: A survey of reproductive medicine physicians
Rémy A Furrer1, Aayushi Gandhi2, Dorit Barlevy3
1Department of Neurosurgery, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Insights
Reproductive endocrinologists show skepticism towards polygenic embryo screening (PES), prioritizing embryo ploidy and morphology over PES predictions. They are more inclined to use PES for medical conditions than traits, reflecting nuanced clinical considerations.
Area of Science:
- Reproductive medicine and genetics.
- Embryo screening technologies.
- Clinical decision-making in assisted reproduction.
Background:
- Polygenic embryo screening (PES) assesses embryos for genetic predispositions to complex conditions and traits.
- The commercialization of PES positions Reproductive Endocrinologists & Infertility specialists (REIs) as key decision-makers.
- Professional guidelines currently advise against the clinical use of PES due to its developmental stage.
Purpose of the Study:
- To survey U.S. REIs on their perceptions and decision-making approaches regarding PES.
- To understand how REIs would integrate PES into clinical scenarios.
- To gauge REI perspectives on the utility and limitations of PES.
Main Methods:
- A survey was administered to 152 U.S. REIs.
- Respondents evaluated hypothetical scenarios involving PES for various conditions and traits.
- REIs assessed criteria for determining condition severity and prioritized PES against embryo ploidy and morphology.
Main Results:
- REIs were more likely to consider PES for medical conditions (e.g., 62% for cancer) than for traits (e.g., 0% for skin color).
- Clinical burden (e.g., high mortality) was prioritized over contextual burden (e.g., lifestyle modifiability) when evaluating severity, though all criteria were deemed important.
- In cases of conflict, PES was rarely preferred over ploidy (8%) or morphology (30%), though patient choice was supported in some scenarios.
Conclusions:
- REIs exhibit skepticism regarding the current clinical utility of PES.
- Decision-making around PES is influenced by complex, context-dependent factors.
- Findings highlight the need for further research and policy development regarding PES in reproductive endocrinology.
Purpose:
Polygenic embryo screening (PES) examines embryos for their genetic likelihood of developing complex conditions and traits. The commercialization of PES places reproductive endocrinologists and infertility specialists (REIs) as the primary decision-makers in its use, despite professional guidelines cautioning that PES is not ready for clinical use.
Methods:
This survey examines how 152 US REIs perceive and approach potential clinical decision-making scenarios regarding the use of PES.
Results:
REIs were more likely to offer PES for medical conditions (up to 62% for cancer) than for traits (eg, 0% for skin color, 10% for body mass index). When evaluating 11 potential criteria to assess condition severity, clinical burden (eg, high mortality [80%]) was rated significantly higher than contextual burden (eg, low lifestyle modifiability [28%]); however, 82% to 93% of respondents considered each criterion at least slightly important. In hypothetical scenarios where PES rankings conflicted with embryo ploidy or morphology, only 8% preferred PES over ploidy, and 30% preferred PES over morphology. Still, 47% supported patient choice in morphology-based cases, and 30% supported patient choice in ploidy-based cases.
Conclusion:
These findings indicate skepticism toward PES, while underscoring the nuanced, context-dependent factors that influence its potential use.
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