Research spotlight: Fertility specialists' perspectives on polygenic embryo screening

Rémy Furrer, PhD, and Gabriel Lázaro-Muñoz, PhD, JD, of the Health Technology Performance Lab within the Mass General Brigham Neuroscience Institute, are the lead and senior authors of a paper published in Genetics in Medicine, “Decision-making criteria in polygenic embryo screening: A survey of reproductive medicine physicians.”

Q: What challenges or unmet needs make this study important?

Polygenic embryo screening (PES or PGT-P) is a technology that estimates an embryo's chances of developing certain health conditions, such as heart disease, later in life. It can also be used to predict traits like height. These estimates are based on genetic patterns seen across large populations and are used to rank embryos during in vitro fertilization (IVF), potentially influencing which embryo is selected for transfer.

Although PES is available commercially in the United States, major medical societies have cautioned that there is not yet enough evidence to support its routine use in patient care. Because there are few regulations governing the technology, fertility doctors are often left to decide whether and how it should be used, while companies can market it directly to patients. We wanted to understand how fertility specialists view PES and whether their opinions align with those of the public and professional medical organizations.

Q: What central question(s) were you investigating?

Our recent research efforts have resulted in two related studies. The first, which published in late 2025, looked at fertility specialists' overall views and concerns about PES. The second, which published recently and is the focus of this Spotlight, explored how they would respond to specific scenarios involving the technology.

We wanted to understand when doctors might consider offering PES to patients, whether they viewed its use differently for medical conditions versus traits and what factors would make a condition serious enough to justify screening. We also explored how doctors would make decisions when PES recommendations conflicted with other methods commonly used in IVF, and how much influence patients' preferences should have in those decisions.

Q: What methods or approach did you use?

Building on our past interviews with fertility doctors and IVF patients, we developed a survey completed by 152 U.S. fertility specialists.

The survey asked physicians about the types of patients who might be appropriate candidates for PES, which medical conditions or traits they would consider screening for and what factors would influence those decisions. Doctors were also presented with hypothetical IVF scenarios in which the embryo recommended by PES differed from the embryo favored by more common measures, such as embryo shape or chromosome status, and were asked how they would weigh those competing sources of information.

Q: What did you find?

The late 2025 paper found that reproductive medicine physicians had substantial skepticism about PES (only 12% approved of its use), including high concerns about predictive accuracy, patient misunderstanding and false expectations, which contrasts with higher public/patient approval.

The newest findings show that despite the broad skepticism, clinicians’ views depended substantially on what was being screened and the clinical circumstances. Physicians were more receptive to PES for medical conditions and opposed its use for traits. For example, 62% were somewhat or extremely likely to offer it for cancer, compared with 10% for body mass index.

Clinical severity also mattered. Factors such as mortality and morbidity carried more weight than contextual lifestyle considerations. Seventy-seven percent of REIs said that patients’ sufficient understanding of PES should be considered when deciding whether to offer it.

Overall, 64% said that PES should only be offered under a research protocol, and 20% said it should not be offered at all (multiple options could be selected at once). This aligns closely with guidance from major professional societies, which consistently emphasize that polygenic embryo screening is not yet ready for clinical use.

Q: What are the real-world implications, particularly for patients?

Patients may come across PES through fertility clinics or commercial testing companies. However, these scores do not reliably predict whether an embryo will develop a particular disease. Instead, they provide estimates based on population-level genetic associations, and those estimates have important limitations. The accuracy of these predictions can vary depending on the condition being evaluated, the population in which the score was developed, and environmental influences.

One of the biggest challenges is helping patients understand what these scores can and cannot tell them. Doctors, genetic counselors and the media all play an important role in explaining the limitations of this technology. Clear communication, realistic expectations and stronger guidance around how these tests are offered and explained will help patients make informed decisions.

Q: What emerging trends in this field excite you right now?

Beyond embryo screening, polygenic risk scores are increasingly entering clinical and commercial settings for adults, and there are many misconceptions surrounding them. There needs to be more evidence-based guidance for communicating probabilistic (estimated genetic) risk.

Furthermore, evidence for PRS’ clinical utility as well as psychosocial risks tied to their disclosure is rather limited at present. Through psychological experiments, we're examining how people interpret polygenic risk, when genetic information may be misunderstood as deterministic and how communication strategies influence risk perceptions, emotional well-being and behavioral decisions.

Authorship: In addition to Furrer and Lázaro-Muñoz, additional authors include Aayushi Gandhi, Dorit Barlevy, Shai Carmi, Todd Lencz and and Stacey Pereira.

Paper cited: Furrer, RA.,  et al.  “Decision-making criteria in polygenic embryo screening: A survey of reproductive medicine physicians.” Genetics in Medicine. DOI: 10.1016/j.gim.2026.102631

Funding: This study was sponsored by the United States National Human Genome Research Institute of the National Institutes of Health (grant R01HG011711). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Disclosures: Carmi receives personal fees from MyHeritage for work on polygenic risk scores unrelated to embryo screening. All other authors have no conflicts of interest to report.

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