Patients' perspectives on newborn screening for later-onset lysosomal storage diseases

被引:20
作者
Lisi, Emily C. [1 ,3 ]
Gillespie, Scott [2 ]
Laney, Dawn [1 ]
Ali, Nadia [1 ]
机构
[1] Emory Univ, Sch Med, Dept Human Genet, 2165 N Decatur Rd, Decatur, GA 30033 USA
[2] Emory Univ, Sch Med, Pediat Res Ctr, 2015 Uppergate Rd, Atlanta, GA 30322 USA
[3] Mayo Clin, Ctr Individualized Med, Harwick 3,205 3rd Ave SW, Rochester, MN 55902 USA
关键词
Newborn screening; Lysosomal storage diseases; Patient opinions; Patient perspectives; ILLNESS PERCEPTION QUESTIONNAIRE; HEALTH-CARE PROVIDERS; REPRODUCTIVE BENEFIT; GAUCHER-DISEASE; DISORDERS; FAMILIES; PARENTS; CARRIER; VIEWS;
D O I
10.1016/j.ymgme.2016.07.009
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Lysosomal storage diseases (LSDs) are an individually rare but collectively common group of hereditary, progressive, multi-systemic disorders. Recent technological advances have brought newborn screening (NBS) for LSDs to attention in the United States. However, many LSD symptoms present in later childhood or adulthood, with a wide spectrum of severity. Because late-onset symptoms stray from the traditional NBS model, healthcare providers have expressed concerns about potential harm to patients and/or their families. In this study, 47 individuals with Fabry disease (FD), 22 with Gaucher disease (GD), and 22 with late-onset Pompe disease (LOPD) were surveyed regarding how their life might have been impacted by NBS. Of the 91 participants, none had symptoms at birth and 42 (46.7%) were symptom-free until adulthood. Over half (52.8%) were diagnosed years from symptom onset; of these, significantly more had FD (60%) or LOPD (63.6%) than GD (23.8%). However, length of diagnostic odyssey was not significantly correlated with opinion on NBS. Most participants either strongly agreed (45%) or agreed (33.3%) with NBS for their condition, with no significant differences between diseases. Opinions on NBS were correlated with participants' opinions on whether NBS would have resulted in better current health, but uncorrelated with disease severity or current life satisfaction. Significantly more participants with FD (42.6%) and LOPD (63.6%) than GD (13.6%) felt they would have greater life satisfaction had they been diagnosed as a newborn (p = 0.007). Almost half (41%) of participants would have made different life decisions, including lifestyle, financial, and reproductive decisions. Regarding potential harm, participants were most concerned about insurability and least concerned about removal of children's autonomy. In conclusion, NBS is highly approved of among individuals with LSDs themselves, as it would significantly eliminate diagnostic odysseys and potentially alter life planning. (C) 2016 Elsevier Inc. All rights reserved.
引用
收藏
页码:109 / 114
页数:6
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