The article below reflects the personal opinions of the author(s) and does not reflect the views or opinions of the Perspectives editors or committee, or the National Society of Genetic Counselors (NSGC).
When the ACMG added ABCD1 to its latest list of recommended secondary findings, I thought back to my master’s thesis, where I interviewed families navigating X-linked adrenoleukodystrophy (X-ALD) newborn screening results. One story still stands out: a father who learned he had adrenomyeloneuropathy (AMN) only because his newborn daughter’s screening result led to cascade testing.
He felt healthy. His diagnosis was unexpected. In the weeks and months after learning the news, his wife described how he became withdrawn and depressed, struggling to process a genetic condition he had never heard of but was now told could progressively limit his mobility, independence and quality of life.
This is not the image most people, including many health care providers, have when they think of X-ALD. The public and clinical narratives often center on the devastating childhood form, but in adult males identified incidentally, the presentation is typically AMN: a gradual onset of gait changes, spasticity, bladder and bowel dysfunction, sexual dysfunction, and sometimes adrenal insufficiency. While not as acutely life-threatening as the cerebral form, AMN profoundly impacts daily life. There is no treatment to halt its progression once it begins. It's also important to note that up to 65% of female carriers will develop later-life neurological symptoms that can affect mobility, independence and overall quality of life.
In clinical practice, incidental diagnoses in adults can arrive through several routes: cascade testing after a relative’s newborn screen, genomic testing for unrelated reasons or even expanded carrier screening. The moment of disclosure is different from many other genetic conditions. There is no immediate intervention to offer, no clear timeline for when symptoms will begin, and often no obvious next steps beyond monitoring.
The psychosocial weight is significant. Patients may experience anxiety, grief, changes in identity and guilt about potential transmission to children. For some, the uncertainty is the hardest part, living with the knowledge that something may change without knowing when.
For genetic counselors, these cases require a balance of clear, accurate information and compassionate support. While we cannot change the fact of the diagnosis, we can influence how supported someone feels in its aftermath. That means discussing what surveillance can and cannot accomplish, connecting patients to neurology and endocrinology for ongoing care, facilitating cascade testing for relatives and integrating mental health resources into the care plan.
The father from my research deserved better preparation for his journey with AMN. As ABCD1 detection expands through both newborn screening and secondary findings, we have an opportunity and an obligation to ensure future patients receive the kind of holistic, coordinated support that can make an unexpected diagnosis less isolating and more manageable.
References
- Kemp, S., Berger, J., & Aubourg, P. (2012). X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochimica et Biophysica Acta, 1822(9), 1465-1474. https://doi.org/10.1016/j.bbadis.2012.03.012
- Kornbluh, A. B., Baldwin, A., Fatemi, A., Vanderver, A., Adang, L. A., Van Haren, K., Sampson, J., Eichler, F. S., Sadjadi, R., Engelen, M., & Orthmann-Murphy, J. L. (2024). Practical approach to longitudinal neurologic care of adults with X-linked adrenoleukodystrophy and adrenomyeloneuropathy. Neurology Genetics, 10(5), e200192. https://doi.org/10.1212/NXG.0000000000200192
- Lee, K., Abul-Husn, N. S., Amendola, L. M., Brothers, K. B., Chung, W. K., Gollob, M. H., Gordon, A. S., Harrison, S. M., Hershberger, R. E., Li, M., Ondrasik, D., Richards, C. S., Stergachis, A., Stewart, D. R., Martin, C. L., Miller, D. T., & ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net (2025). ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 27(8), 101454. https://doi.org/10.1016/j.gim.2025.101454
- Schwan, K., Youngblom, J., Weisiger, K., Kianmahd, J., Waggoner, R., & Fanos, J. (2019). Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California. International Journal of Neonatal Screening, 5(4), 42. https://doi.org/10.3390/ijns5040042
Katharina Schwan, MS, MPH, CGC (she/her) Katharina Schwan is a board-certified genetic counselor based in the Bay Area, CA. She is a clinical genetic counselor at Community Health Partners as well as the founder of Swan Health Genetics, a private genetic counseling practice. Her interests include alternative models of providing reproductive health care, expanding access to genetic counseling and testing for underserved and underrepresented individuals, and research at the intersection of public health and genomics.