A recent study presented at the NSGC Annual Conference in 2025 has shed light on the intricate nature of Alzheimer’s disease risk assessment and the crucial role genetic counselors play in interpreting complex results. The study, led by Matt Tschirgi, revealed that individuals carrying the APOE ϵ4/ϵ4 allele were significantly more likely to exhibit biomarker patterns indicative of mild cognitive impairment or Alzheimer’s-related dementia. However, here’s where it gets interesting: a substantial number of individuals without this specific allele also showed signs of Alzheimer’s pathology, highlighting the nuanced nature of biomarker interpretation.
The study analyzed data from over 21,000 individuals who underwent beta-amyloid testing, with results aligning with previous findings. Notably, there was no significant difference observed between individuals homozygous for APOE ε3 and those with the APOE ε4 allele.
Among those who underwent p-tau 181 testing, nearly half showed results consistent with MCI or AD-related dementia. Furthermore, individuals homozygous for APOE ε4 were significantly more likely to have biomarker results indicating MCI or dementia compared to those without the ε4 allele.
The findings suggest that while the APOE ϵ4/ϵ4 allele is a strong indicator of Alzheimer’s risk, it is not the sole determinant. This complexity underscores the need for expert interpretation, especially as new therapies and biomarker tests emerge.
And this is the part most people miss: the role of genetic counselors in providing clarity and support. As certified professionals, they possess the expertise to navigate ambiguous results, ensuring informed decision-making. With the evolving landscape of Alzheimer’s research and treatment, their role is becoming increasingly vital.
The study authors emphasize the ongoing discussions within the NSGC community, highlighting the need for clear guidelines and expert interpretation in the face of genetic heterogeneity and complex biomarker results.
So, what does this mean for the future of Alzheimer’s diagnosis and treatment? And how can we ensure that individuals receive accurate information and support? These are questions that demand further exploration and discussion.
Stay tuned for more coverage of the NSGC Annual Conference and the latest advancements in neurology.