Comment on “The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice”

Clinicians use virtual gene panels to analyze regions of patients’ genomes for variants associated with disease. With the increasing availability of this technology, 2 perinatal screening tests have become more common: genetic reproductive carrier screening (RCS) and genomic newborn screening (gNBS). RCS identifies couples at higher risk of conceiving a child with a genetic disease to support reproductive decision-making, while gNBS typically screens newborns for treatable childhood-onset diseases to improve clinical outcomes. Despite overlapping goals, the specific genes included in these tests, both between test categories and across different platforms, vary significantly. The authors of this commentary argue that the independent development of these testing approaches, without coordination, has the potential to influence and complicate patient counseling. To examine how RCS and gNBS platforms intersect and differ, the authors use an Australian RCS study (Mackenzie’s Mission) and a gNBS study (BabyScreen+) as models. The 1300 genes included in the RCS model target X-linked or autosomal recessive conditions with onset before 18 years of age and limited or burdensome treatment options. The 604 genes analyzed in the gNBS model focus on genetic disorders associated with early childhood disease (before 5 years of age), substantial morbidity or mortality, and time-sensitive effective treatment. A total of 318 genes are shared between the two panels, largely representing severe, early-onset conditions with some available treatment. BabyScreen+ includes 286 unique genes, 73 of which are dominant conditions with less intensive treatments and variable expressivity, potentially leading to diagnosis in a carrier parent. In contrast, Mackenzie’s Mission includes 982 genes not assessed by gNBS that are typically untreatable or emerge later in childhood. As perinatal genetic testing evolves, clinicians will face greater challenges in counseling patients about available options and interpreting results. Variation in genes analyzed between testing platforms could contribute to confusion among providers and patients and introduce inequities in care. The authors urge collaboration among genetic counselors and other health professionals to enable families to make informed decisions that align with their values as the list of gene-disease associations continues to expand.(Summarized from Downie L, Lunke S, Stark Z, et al. The intersection between genetic reproductive carrier screening and genomic newborn screening: Implications for clinical practice. Prenat Diagn. 2025 Sep;45(10):1277-1280. doi: https://doi.org/10.1002/pd.6771)