Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review

Abstract

Genome and exome sequencing (GS/ES) are increasingly being used in pediatric contexts. We summarize evidence regarding the actual and perceived understanding of GS/ES of parents of a child offered testing for diagnosis and/or management of a symptomatic health condition. We searched four databases (2008–2021) and identified 1264 unique articles, of which 16 met inclusion criteria. We synthesized data from qualitative and quantitative studies and organized results using Ayuso et al. (2013)’s framework of key elements of information for informed consent to GS/ES. Many of the parents represented had prior experience with genetic testing and accessed a form of genetic counseling. Parents’ understanding was varied across the domains evaluated. Parents demonstrated understanding of the various potential direct clinical benefits to their child undergoing GS/ES, including in relation to other genetic tests. We found parents had mixed understanding of the nature of potential secondary findings, and of issues related to data privacy, confidentiality, and usage of sequencing results beyond their child’s clinical care. Genetic counseling consultations improved understanding. Our synthesis indicates that ES/GS can be challenging for families to understand and underscores the importance of equipping healthcare professionals to explore parents’ understanding of ES/GS and the implications of testing for their child.

Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis

“…This collaboration does not end at diagnostic resolution and must be carried forward to allow WES to address any subsequent genetic inquiries that arise. It is also crucial that patients (or their caretakers) understand the genetic test that has been performed and that they are well-informed on how this test can impact their care moving forward ( Syurina et al, 2011 ; Gereis et al, 2022 ). The mother of our patient proved to be a huge advocate for her daughter and readily informed the other providers about the WES data, who were then able to contact the precision medicine clinic for WES reanalysis.…”

Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients

“…They showed that, though the psychological impact of SF/IF disclosure was not clinically relevant, the numerical psychological impact scores were significantly higher in individuals receiving SF/IF than in individuals with a family history of cancer receiving similar genetic results 15 . In the field of rare diseases, Gereis et al (2022) indicated that ES or genome sequencing could be challenging for families to understand and underscored the importance of equipping healthcare professionals to explore parents' understanding of ES/genome sequencing and the implications of testing for their child 21 . Houdayer et al (2019) conducted focus groups with parents of patients with undiagnosed rare diseases potentially eligible for ES and patients affected by genetic predisposition to cancer, cardiogenetics or metabolic diseases.…”

“… 15 In the field of rare diseases, Gereis et al (2022) indicated that ES or genome sequencing could be challenging for families to understand and underscored the importance of equipping healthcare professionals to explore parents' understanding of ES/genome sequencing and the implications of testing for their child. 21 Houdayer et al (2019) conducted focus groups with parents of patients with undiagnosed rare diseases potentially eligible for ES and patients affected by genetic predisposition to cancer, cardiogenetics or metabolic diseases. The researchers underscored the four key information‐based issues for participants, which ranked as follows: explanation of SF issues, autonomy of choice, importance of a reflection period, and quality of interactions between patients and professionals.…”

Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing

“…Each family's unique relationships may play a role in shaping their experience of the GS process through influencing decisions on both whether to pursue testing and with whom to share results. While the parental perspectives on many aspects of the GS process have been well-studied [30], little research has focused on how family-level characteristics influence preferences for and experience of clinically indicated pediatric GS. The intersectionality of factors that shape the family-level experience of GS for a child with an undiagnosed condition is also not yet well understood.…”