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Key Takeaways
- Studies presented at the NSGC 44th Annual Conference show that people want both the power of modern, advanced genetic testing paired with the personal support of a genetic counselor.
- Genetic counselors bridge the gap between lab results and real-life decisions, offering guidance that technology alone cannot provide.
Efforts to reduce delays and broaden testing access are giving more patients the ability to understand and act on their genetic information
A New Chapter in Personalized Health
Every year, thousands of genetic counselors and researchers gather at the National Society of Genetic Counselors (NSGC) Annual Conference to share discoveries that influence how families navigate health and disease.
At the NSGC 44th Annual Conference in Seattle, the research reflected a common idea: the power of genetics and genomics grows when people have access to clear information and professional support. The studies examined how technology, advancements in testing and large-scale screening efforts can enhance care when informed by human expertise and empathy.
The highlights below summarize key findings from notable research presented at the conference and their implications for those seeking to understand their health through genetics.
AI Tools Can Inform but Not Replace Human Care
Many people use AI chatbots to learn about health and genetics. Two studies found that while these tools can help explain general concepts, most patients want the personal connection and expertise that come from meeting with a genetic counselor. About nine in ten people said an AI chatbot or online video could not match the expertise and personalization of a counseling session.
Participants appreciated the opportunity to ask questions specific to their situation, receive emotional support, and discuss the possible next steps in real time. They said AI tools can help with the basics, but interpreting results and making decisions require professional guidance from a genetic counselor to build confidence and trust.
More Comprehensive Embryo Testing Could Improve IVF Decisions
Families pursuing in vitro fertilization (IVF) often face tough choices about which embryos to transfer. A new method called preimplantation genetic testing with whole-genome sequencing, or PGT-G, examines the entire genome of an embryo to find conditions that standard tests may miss.
In this study, PGT-G identified disease-causing variants in approximately 20 percent of embryos that standard testing miss and was more than 99 percent accurate. The findings suggest that PGT-G could give hopeful parents more complete information about embryo health and improve the chances of a successful pregnancy.
A genetic counselor can help explain what the results mean, how they fit into other aspects of fertility care, and what questions to ask when considering advanced testing options.
Hidden Genetic Risks Are More Common Than Many Realize
A National Institutes of Health-funded project called eMERGE studied nearly 20,000 adults and found that one in 40 carried a genetic variant linked to cancer or heart disease. Two-thirds learned about this risk for the first time.
These findings show that people without a known family history can have inherited risks, and that early genetic testing can help identify who might benefit from earlier screening or preventive care, such as colonoscopies, mammograms or cholesterol-lowering treatments.
Knowing their results enables people who may be at risk and their healthcare team to make proactive choices to protect their health.
Many Cancer Patients Wait Too Long for Genetic Testing
A study of more than 65,000 people with cancer found that many wait years to receive recommended genetic testing. The delays vary by cancer type and are about a year longer for women. Patients with pancreatic cancer typically receive testing within months, while those with endometrial cancer wait more than three years on average.
These long waits can affect care. Genetic testing can help determine which treatments are most effective as well as alert relatives to potential health risks. People who have been diagnosed with cancer should ask their doctor or genetic counselor whether genetic testing could help guide their care plan.
What This Means for You
Across all four studies, one message stands out: understanding genetic information can help people make more informed choices about prevention, treatment and family health.
Technology can expand the scope of what testing can reveal, but the guidance of a genetic counselor remains essential. A genetic counselor can explain complex results in plain language, help weigh the options and connect patients with the appropriate medical follow-up.
Find Guidance and Support
Genetic testing can feel complex, but you do not have to navigate it alone. Visit Find a Genetic Counselor to connect with a certified professional in your area or through telehealth.
This article is for educational purposes only and is not a substitute for medical advice. If you have questions about your genetic health or testing options, talk with your healthcare provider or a certified genetic counselor.
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