Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study

Abstract

Lysosomal storage diseases (LSDs) are a heterogeneous group of conditions causing substrate accumulation leading to progressive organ damage. Newborn screening (NBS) for several LSDs has become available in recent years due to advances in technology and treatment availability. While early initiation of treatment is lifesaving for those with infantile presentations, controversy continues regarding diagnosis of milder, later-onset diseases in infancy, including creation of pre-symptomatic populations of 'patients-in-waiting', the potential for medicalization, stigmatization, and/or discrimination. In-depth interviews were conducted with 36 adults [11 with Fabry disease (FD), 8 with Gaucher disease (GD), and 17 with late-onset Pompe disease (LOPD)], to determine their perspectives on NBS for their respective conditions. Thirty-four of 36 participants were in favor of NBS; both participants not in favor had GD1. Emergent themes influencing participants favorably toward NBS included earlier age of onset, a long diagnostic odyssey, less efficacious treatment, and the desire to have made different life decisions (e.g., relationships, career, or lifestyle) with the knowledge of their diagnosis. Concerns about insurance discrimination and psychological or physical burdens were associated with less favorable opinions of NBS. The ability for parents to make future reproductive decisions based their child's NBS result was considered favorably by some participants and unfavorably by others. Participants' specific condition (GD1, FD, or LOPD) contributed to these experiences differently. Participants with LOPD and FD favored NBS to initiate earlier treatment and prevent irreversible organ damage, whereas fewer patients with GD1 mentioned this benefit. Participants with LOPD had the longest diagnostic odyssey, while those with FD were more likely to report feeling misunderstood and experiencing accusations of malingering, both contributing to favorable views of NBS. Results expand prior quantitative findings by illuminating how participants' lived experiences can shape opinions about NBS. By understanding how currently affected individuals perceive the lifelong impact of a NBS result, genetic counselors can provide better anticipatory guidance to the parents of individuals diagnosed with a later-onset LSD by NBS.

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

“…Interestingly, in a recent study, an interview among adult patients with lysosomal diseases was conducted on their opinion toward NBS. The majority of participants agreed with the implementation of NBS, in particular, all patients with FD were in favor of NBS because it may allow for the initiation of earlier treatment and prevent irreversible organ damage [68].…”

Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan

“…Assessment of the effectiveness of treatment requires a holistic approach to data collection that includes the perspectives of both patients and their caregivers. Despite the importance of QOL in the management of patients with GD, limited information is available on the burden of nGD in patients and caregivers, as qualitative studies conducted to date have almost exclusively included patients with type 1 GD [ 9 – 11 ]. Although GD-specific patient-reported outcome measures (PROMs) have been developed, these questionnaires are focused on patients with type 1 GD [ 12 – 14 ] and are not suitable for capturing symptoms and comorbidities of patients with nGD.…”

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

“…Notwithstanding these concerns, studies conducted in patients with PD, their parents, or healthcare providers show high support for PD NBS [ 97 , [100] , [101] , [102] , [103] , [104] , [105] ].…”