Bethesda, MD – July 1, 2026 – The American College of Medical Genetics and Genomics (ACMG) has published a new statement, Points to Consider for the Reporting of Variants of Uncertain Significance in Germline Genetic and Genomic Testing , providing guidance to laboratories and healthcare professionals on the reporting and communication of variants of uncertain significance (VUS) identified through genetic and genomic testing.
VUS represent one of the most complex and frequently misunderstood aspects of genetic testing. A VUS is a genetic change for which there is currently insufficient evidence to determine whether it is associated with a disease. As genetic testing becomes increasingly integrated into patient care, consistent reporting and transparency in the interpretation of these findings are critical to supporting appropriate clinical decision-making and avoiding misinterpretation.
The statement addresses important considerations related to the classification, reporting, communication, and clinical use of VUS findings and emphasizes the importance of transparently delineating VUS into those variants more likely to be reclassified as benign (VUS-low) versus those for which a clinician may wish to expend more effort in follow-up (VUS-high).
"For decades labs have developed their own policies around when and how to report VUS in clinical genetic testing, with limited guidance available that spans all platforms and clinical contexts," said Heidi Rehm, PhD, FACMG. "We are delighted to be able to provide consistent recommendations for laboratories that balance the benefits and risks of VUS reporting and allow transparency for patients and clinicians who are navigating this complexity."
Published in Genetics in Medicine , ACMG's official journal, the statement outlines key considerations and recommendations intended to promote clarity, consistency, and best practices in the reporting of VUS findings across clinical laboratories and healthcare settings.
"As the use of genetic and genomic testing continues to expand, clear guidance on the reporting of uncertain findings is essential," said ACMG President Mira B. Irons, MD, FACMG. "This statement reflects ACMG's ongoing commitment to supporting laboratories, clinicians, genetic counselors, and other healthcare professionals with evidence-based guidance that promotes high-quality patient care and the responsible use of genetic information."
The full statement, Points to Consider for the Reporting of Variants of Uncertain Significance in Germline Genetic and Genomic Testing: A Statement of the American College of Medical Genetics and Genomics (ACMG), is available in Genetics in Medicine at: http://doi.org/10.1016/j.gim.2026.102583 .
About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation
Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is a prominent authority in the field of medical genetics and genomics and the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics. The only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization, the ACMG provides education, resources and a voice for more than 2,500 clinical and laboratory geneticists, genetic counselors, and other healthcare professionals. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health.
Genetics in Medicine and Genetics in Medicine Open, a gold open access journal, are the official ACMG journals. ACMG's website, acmg.net , offers resources including policy statements, practice guidelines, and educational programs. The ACMG Foundation for Genetic and Genomic Medicine works to advance ACMG educational and public health programs through philanthropic gifts from corporations, foundations, and individuals.
