Newborn Screening for X-Linked Adrenoleukodystrophy: Experiences, Perspectives, and Future Directions for Genetic Counseling

There is a notable lack of research regarding genetic counseling practices for infants with screen-positive results for X-linked adrenoleukodystrophy (X-ALD) via newborn screening (NBS). The exploratory study aimed to understand the experiences of genetic counselors providing follow-up care for these infants, assess the complexities associated with NBS for X-ALD, identify potential gaps in genetic counseling practices, and describe the subsequent impact on patient care. A mixed-methods approach was utilized, incorporating an initial survey and optional semi-structured interviews with practicing genetic counselors who had seen a minimum of five cases of infants with screen-positive results for X-ALD in the last two years. A total of 17 survey responses underwent descriptive statistical analysis and 11 interviews were analyzed using reflexive thematic analysis. The following five key perspectives emerged from the data: (1) perceptions surrounding the addition of X-ALD to NBS, (2) complexities in genetic testing and X-ALD diagnosis from NBS, (3) psychosocial considerations for X-ALD diagnosis from NBS, (4) perspectives on follow-up for affected infants and families, and (5) broader implications for the future of NBS. Findings highlighted the complexities of counseling families due to the broad clinical spectrum of X-ALD, a high volume of cascade testing for at-risk family members, and frequent identification of female infants with limited guidance on future disease manifestation. Participants emphasized a need for long-term follow-up strategies, enhanced multidisciplinary collaboration, and increased involvement of genetic counselors in NBS policy. As NBS continues to expand, this study provides critical insights into the evolving role of genetic counselors and the necessity of refining long-term follow-up to ensure equitable and effective patient care.