Questionnaire survey on healthcare providers’ awareness of PGT-M and their perceptions of the preference of individuals diagnosed with cancer predisposition syndromes: A single-center study in  Japan

For many families, the story of a genetic condition begins long before a child is born. Some illnesses that increase the risk of cancer are passed down through families in a predictable way: if a parent carries a specific change in their genetic code, there is a fifty-fifty chance they will pass that same change to each of their children. This reality can cast a shadow over family planning for adults who have been diagnosed with such conditions. They face a difficult question: how can they have a biological child without also passing on this heightened risk of disease? Modern medicine offers a path forward through reproductive technologies. One option is to test an embryo before it is implanted in the womb, looking for the specific genetic change and choosing only those that are free of it. Another is to test a pregnancy after it has begun. These tools exist to help parents make choices that align with their values and health needs, but they rely on a crucial first step: someone must tell the parents they exist.

In Japan, a team of researchers set out to see if the doctors and nurses who treat cancer patients were actually equipped to offer this guidance. They focused on a large cancer hospital in Tokyo, surveying the medical staff who work directly with patients. The researchers wanted to know two things: first, whether these healthcare providers even knew about the option of testing embryos before pregnancy, and second, whether the providers believed that patients would be interested in learning about it. The survey was anonymous and conducted online, allowing the staff to answer honestly without fear of judgment. The results painted a picture of a significant gap in knowledge. Out of nearly five hundred medical professionals who responded, only a small fraction knew about the embryo testing option. Roughly seven percent said they were fully aware of it, while another fourteen percent had simply heard the name. The vast majority, nearly eighty percent, reported that they were not aware of the procedure at all.

Despite this lack of knowledge among the staff, the survey revealed a strong belief that patients would want to know. More than ninety percent of the respondents felt that some individuals facing these genetic risks would be interested in, or actively seek, information about these reproductive choices. This disconnect suggests that while the medical community recognizes the potential value of these options for families, the information is not yet reaching the people who could provide it. The study concludes that in this specific hospital setting, only about one in five healthcare providers is currently aware of the technology. The authors suggest that to help families make informed decisions, there is an urgent need to improve awareness among oncology staff and to build better support systems. Until doctors and nurses know these tools exist, they cannot guide their patients toward them, leaving families to navigate these profound choices without the full range of medical options available to them.