Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children

Abstract

Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents’ preferences for learning their children’s sequencing results. We conducted semi-structured interviews with 25 parents of 13 minor probands with a variety of rare genetic conditions. Parents were asked to discuss their preferences to receive four types of results from exome sequencing. Many parents preferred to receive all types of results. Parents had the most positive attitudes toward learning about variants that predispose to disorders treatable or preventable in childhood. They had reservations about learning about predispositions for untreatable adult-onset conditions and carrier status for recessive conditions. Parents described their success in coping with their child’s condition as evidence for an ability to manage any additional negative health information. They felt responsible for learning about secondary variants, desiring a gain in control over their child’s health. Our findings suggest that investigators should incorporate parents’ perceptions of the value in receiving secondary variant information about their children when designing studies employing exome sequencing.

Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status

“…The current study extends prior research on people's hopes for genomic sequencing [4][5][6] by investigating predictors of hope in adult patients and parents of pediatric patients in a real-world, clinical setting. The hopes of patients and parents reflected personally relevant information that could potentially influence their psychological wellbeing, beliefs about the condition, and subsequent health decisions.…”

“…3 Prior studies reveal that at-risk adults, patients, and parents of pediatric patients hope to learn different kinds of information from diagnostic genomic sequencing results (eg, genetic cause, treatment). [4][5][6] One key question that has not been addressed is why patients hope for different kinds of information. Understanding factors that shape patient hope could inform the development of patient education and counseling approaches that foster hope in ways that acknowledge the strengths and limitations of genomic sequencing.…”

Research participants’ attitudes towards the confidentiality of genomic sequence information

“…6 Evidence suggests that understanding of research intentions is high in both study groups. 10 During the consent process, participants are made aware that some of their study samples or data (such as blood samples or their genetic sequence) may be placed in a public database (dbGaP) and will not contain identifiers. In both protocols, sequence variants deemed clinically relevant are validated in a Clinical Laboratory Improvement Amendmentscertified laboratory and returned to the corresponding participant, or their parent if the proband is a minor.…”

Returning pharmacogenetic secondary findings from genome sequencing: let’s not put the cart before the horse

“…Many researchers have already investigated the expectations, views, and attitudes toward receiving (secondary) findings from sequencing among African Americans 3 and non-African Americans 4 ; among genetic, 5 pediatric, 6 primary care, 7 and nonmedical health professionals 8 ; and about sequencing in patients with Lynch syndrome 9 as well as newborns 10 and children. 11 Several studies went beyond views and addressed intentions, 12 knowledge, awareness, and understanding 13 ; whereas others focused on the practical aspects of how to integrate sequencing in health-care practice 14 ; how to deliver the service 15 ; how to prepare different health professionals such as nurses 16 and genetic counselors 17 for their role in the delivery; how to design the patient report 18 ; and how to handle informed consent in adults, 19 children, 20 and in families with genetic disease. 21 We already have a glimpse of the usefulness 22 and cost-effectiveness of returning secondary findings.…”