OBJECTIVES: Measuring health-related quality of life (HRQoL) is key to patient-centered value assessment of genomic medicine interventions, including genomic sequencing and gene-based therapies. Our objective is to describe the empirical literature on HRQoL of pediatric patients with genetic conditions, as well as HRQoL and well-being of their family members.

METHODS: We conducted a scoping review following published methodological guidelines (PRISMA-ScR). We systematically searched PubMed, EMBASE, and grey literature for original research articles published since January 1, 2010 that reported primary data on: 1) pediatric HRQoL for patients with genetic conditions; 2) HRQoL in family members and caregivers of pediatric patients with genetic conditions; 3) family well-being in families affected by pediatric genetic conditions. This review is registered on OSF (https://osf.io/sxk8u/).

RESULTS: Our PubMed search yielded 7,576 records, and our Embase search yielded 13,061 of which 8,299 remained after PubMed duplicates were removed. After title and abstract review, 1,460 records were retained for full-text review. With 67% of full-text screening complete, 689 articles were included for analysis. Articles reported data on pediatric HRQoL (68%), family HRQoL and well-being (20%), or both (12%). Most research was led in the US (34%) or the United Kingdom (7%). The most frequently studied conditions include: sickle cell anemia (13%), cystic fibrosis (13%), hemophilia (9%), Duchenne muscular dystrophy (8%), thalassemia (6%), and Down syndrome (6%). The majority of pediatric HRQoL studies (63%) employed a cross-sectional survey study design, whereas 15% reported data from interventional trials. The Pediatric Quality of Life Inventory (PedsQL) was the most frequently used instrument (24%) to assess pediatric HRQoL.

CONCLUSIONS: While the heterogeneity of conditions and approaches to HRQoL assessment pose challenges for comprehensive evaluations of genomic medicine interventions, there is a growing body of empirical HRQoL literature across a wide range of pediatric genetic conditions.