Kirschner, Alison La Pean

Krabbe disease (KD) is a rare, inherited leukodystrophy associated with early mortality. Infantile Krabbe disease (IKD) was added to the Recommended Uniform Screening Panel (RUSP) in July 2024. Since then, U.S. states have continued to evaluate implementing KD newborn screening (NBS), and RUSP inclusion has hastened adoption efforts. This study aimed to characterize NBS program responses to this recommendation and identify factors influencing adoption and implementation. A mixed-methods approach was used, including a case review of Wisconsin’s process to add conditions to its NBS panel and a cross-sectional survey of U.S. NBS programs. Responses were obtained from 50 of 51 NBS programs. Twenty-two programs actively screen for KD, with ten additional programs in the implementation process. Screening approaches varied, particularly in psychosine (PSY) cutoff thresholds and testing algorithms. Programs reported a range of adoption pathways, including legislative mandates, advisory committee review, and state-specific nomination processes. Key factors impacting KD NBS adoption included uncertainty regarding treatment safety, efficacy, and availability, ethical considerations related to identifying later-onset disease, and logistical challenges such as laboratory readiness and clinical follow-up resources. This study provides a contemporary overview of national implementation of KD NBS and offers practical insights for programs considering adoption.

Abstract Social Determinants of Health (SDoH), such as education level, housing status, lived environment, and socioeconomic status, can create obstacles to accessing healthcare services, particularly for minoritized people and individuals with chronic health conditions. While previous research shows that addressing SDoH can lead to positive health outcomes, no studies have investigated the role of SDoH in genetic counseling. This mixed‐methods study aimed to clarify if genetic counselors (GCs) are aware of SDoH, and if knowing a patient's specific SDoH would prompt GCs to change their approach to that patient's care. An online survey was sent to GCs, consisting of scenario‐based questions to explore whether knowledge of a patient's SDoH information prompts changes in approaches to care. Nearly 45% of respondents reported only somewhat to no familiarity with SDoH. However, respondents with moderate to extreme familiarity with SDoH were 1.58 times more likely to modify patient care to address SDoH than those with little to no familiarity ( p = 0.003). However, nearly half of the respondents reported that their electronic medical record (EMR) system does not display SDoH information. Qualitative analysis demonstrated that GCs would use SDoH information to make specific changes in counseling content, identify resources, provide referrals to services such as local resources or social work, and offer alternative service delivery methods. These preliminary findings suggest that GCs can leverage SDoH data to help patients overcome obstacles stemming from SDoH and highlight areas for improvement within healthcare systems and education. Healthcare institutions should consider effective workflows to accurately capture and display SDoH within the EMR and increase efforts surrounding SDoH education. An earlier introduction to SDoH through GC training programs could promote higher familiarity with SDoH. Together, increased SDoH awareness and easier access to information about patient‐specific barriers may lead to an increase in GC‐initiated interventions to address disparities stemming from SDoH.