Responsibility,culpability, and parental views on genomic testing for seriously ill children

PurposeWe describe parental perceptions of and experiences with genomic sequencing (GS) in the care of seriously ill children. Understanding parents’ perspectives is vital for clinicians caring for children, given the uptake of genomic technologies into clinical practice.MethodsLongitudinal, semistructured interviews were conducted with parents of pediatric cancer patients who underwent exome sequencing (ES) as a part of the BASIC3 study. Interviews were conducted at baseline, one to eight months after results disclosure, and approximately one year after disclosure. Using thematic qualitative analysis, parent interviews were coded with both inductive and deductive approaches.ResultsBefore receiving genomic information, parents indicated that they saw ES as something responsible parents would agree to if their child had cancer. Some parents talked about the possibility of sequencing affecting feelings of culpability for their child’s cancer, worrying that they passed on a cancer-causing gene or made parenting decisions that caused the disease. However, after receiving their child’s ES results many reported feeling relieved of guilt and worry, and felt they had fulfilled parental duties by agreeing to ES for their child.ConclusionThese results reveal a layer of meaning that parents associate with GS that may inform clinicians’ approach to care.     

Parenting a child with chronic illness as they transition into adulthood: A systematic review and thematic synthesis of parents’ experiences

ObjectiveTo understand how parents view and experience their role as their child with a long-term physical health condition transitions to adulthood and adult healthcare services.MethodsFive databases were systematically searched for qualitative articles examining parents’ views and experiences of their child’s healthcare transition. Papers were quality assessed and thematically synthesised.Results: Thirty-two papers from six countries, spanning a 17-year period were included. Long-term conditions were diverse. Findings indicated that parents view their child’s progression toward self-care as an incremental process which they seek to facilitate through up-skilling them in self-management practices. Parental perceptions of their child’s readiness, wellness, competence and long-term condition impacted on the child’ progression to healthcare autonomy. A lack of transitional healthcare and differences between paediatric and adult services served as barriers to effective transition. Parents were required to adjust their role, responsibilities and behaviour to support their child’s growing independence.ConclusionParents can be key facilitators of their child’s healthcare transition, supporting them to become experts in their own condition and care. To do so, they require clarification on their role and support from service providers.Practice implicationsInterventions are needed which address the transitional care needs of parents as well as young people.     

Genomic tools for health: Secondary findings as findings to be shared

PurposeWhether and how to disclose secondary finding (SF) information to children is ethically debated. Some argue that genetic testing of minors should be limited to preserve the child’s future autonomy. Others suggest that disclosure of SFs can occur if it is in the best interests of the child. However, the ways that parents conceptualize and weigh their child’s future autonomy against the interests of their child and other family members are unknown.MethodsTo explore how parents understand SF disclosure in the context of their child and other family members’ lives, we conducted semistructured interviews with 30 families (40 parents in total). All parents had children who were enrolled in a genetic sequencing protocol that returned results by default.ResultsWe found that parents did not routinely conceptualize SFs as distinctive health information. Rather parents saw this information as part of their child’s overall health. To make decisions about disclosure, parents weighed their child’s ability to understand the SF information and their other family member’s need to know.ConclusionBecause most families desired SF information, we argue that disclosure of SF be reconceptualized to reflect the lived experiences of those who may receive this information.     

Barriers and facilitators to shared decision-making in neonatal medicine: A systematic review and thematic synthesis of parental perceptions

ObjectivesSystematically review parental perceptions of shared decision-making (SDM) in neonatology, identifying barriers and facilitators to implementation.MethodsElectronic database (Medline, PsycINFO, CINAHL and Scopus) and follow-up searches were conducted to identify qualitative studies. Data were extracted, thematically analysed and synthesised.ResultsSearches yielded 2445 papers, of which 25 were included. Thematic analysis identified six key themes. Key barriers included emotional crises experienced in the NICU setting, lack of medical information provided to parents to inform decision-making, inadequate communication of information, poor relationships with caregivers, lack of continuity in care, and perceived power imbalances between HCPs and parents. Key facilitators included clear, honest and compassionate communication of medical information, caring and empathetic caregivers, continuity in care, and tailored approaches that reflected parent’s desired level of involvement.ConclusionThe highly specialised environment, and the emotional crises experienced by parents impact significantly on their perceived capacity to engage in surrogate decision-making.Practice ImplicationsComplex and multi-factorial interventions that address the training needs of HCPs, and the emotional, informational and decision support needs of parents are needed. SDM skills training, improved information delivery, and integrated emotional and decisional support could help parents to become more involved in SDM for their infant.     

Understanding of informed consent by parents of children enrolled in a genetic biobank

PurposePrior research suggests that parents undervalue long-term risks associated with their children’s participation in research studies. The primary aim of this study was to evaluate parental understanding of informed consent for a pediatric biobanking study.MethodsThe study population included parents who provided consent for their child to participate in a study examining the genetic etiology of congenital cardiovascular malformations. Informed consent understanding was measured by adapting the Quality of Informed Consent assessment to our study. We evaluated possible predictors of individual Quality of Informed Consent items using generalized estimating equations.ResultsA total of 252 individuals representing 188 families completed the study. The Quality of Informed Consent items best understood by parents included consent to participate in research, the main purpose of the study, and the possibility of no direct benefit. The items least understood by parents were those involving the indefinite storage of DNA, the possible risks of participation, and the fact that the study was not intended to treat their child’s heart defect. Parent age and medical decision making by one versus both parents were frequent predictors of individual Quality of Informed Consent items.ConclusionParents overestimate personal benefit and underestimate the risks associated with their child’s participation in a biobanking study.Genet Med16 2, 141–148.     

The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository

PurposeLittle is known about parental attitudes toward return of individual research results (IRRs) in pediatric genomic research. The aim of this study was to understand the views of the parents who enrolled their children in a genomic repository in which IRRs will be returned.MethodsWe conducted focus groups with parents of children with developmental disorders enrolled in the Gene Partnership (GP), a genomic research repository that offers to return IRRs, to learn about their understanding of the GP, motivations for enrolling their children, and expectations regarding the return of IRRs.ResultsParents hoped to receive IRRs that would help them better understand their children’s condition(s). They understood that this outcome was unlikely, but hoped that their children’s participation in the GP would contribute to scientific knowledge. Most parents wanted to receive all IRRs about their child, even for diseases that were severe and untreatable, citing reasons of personal utility. Parents preferred electronic delivery of the results and wanted to designate their preferences regarding what information they would receive.ConclusionIt is important for researchers to understand participant expectations in enrolling in a research repository that offers to disclose children’s IRRs in order to effectively communicate the implications to parents during the consenting process.Genet Med 2012:14(3):330–337     

Parent information needs and experience regarding acute otitis media in children: A systematic review

BackgroundAcute otitis media (AOM)—inflammation of the middle ear—is the most common pediatric condition, affecting up to 75 % of children at some time before age 5 years. Despite the high incidence of AOM in children, it presents diverse challenges to parents who do not have accurate information on AOM and its management.ObjectiveTo respond to this paucity of information we sought to synthesize the literature to provide a comprehensive understanding of parental information needs and experiences relating to AOMmanagement. This systematic review is an important first step in developing parent-informed knowledge translation tools for AOM to bridge the knowledge-practice gap.Patient involvementNone.MethodFour electronic databases were searched and articles were screened according to pre- established inclusion criteria. Articles were included in the review if they (1) examined parental information needs and experiences with respect to AOM; (2) were written in English; and (3) were published from January 2000 onward.ResultsOut of 1121 articles retrieved, 21 articles met the inclusion criteria. The findings from this review revealed that parents’ knowledge about AOM is generally limited. Further, parents were often poorly informed about what AOM was, which resulted in uncertainty about how to help their child with AOM.DiscussionOur review findings illustrate that parents of children with AOM have pervasive unmet information needs and information deficits negatively impact AOM management, child and family well-being.Practical valueParental experiences and information needs identified through this review were used to develop innovative, evidence-based knowledge translation tools for parents of children with AOM.     

Supporting children with burns: Developing a UK parent-focused peer-informed website to support families of burn-injured children

BackgroundChildren’s burn injuries can have a significant psychosocial impact on parents. However, the stress involved in caring for a child following a burn can often go unrecognized and does not necessarily prompt help seeking by parents.ObjectiveIt is common for adults to seek health-related support and information via the Internet. Many benefit from immediate and easy access to online psychological interventions. A prototype burn-specific, parent-focused, peer-informed, supportive website, designed to provide easy access to information and psychoeducation, was created and tested for acceptability.Patient involvementUsing a partnership-based method of website development, parents and professionals (clinical, academic and support organizations) were recruited and their particular expertise was acknowledged and valued. A participatory action approach was adopted to determine the acceptability of the website for parents/carers.Methods31 participants (9 parents, 22 professionals) tested a prototype version of the website. Data was collected using the eHealth Impact Questionnaire and the concurrent think-aloud protocol.ResultsParents and professionals had favorable opinions of the website. Parents’ ratings tended to be more favorable than professionals’, which was significant for the information and presentation. Participants’ thoughts were categorized into seven topics: need, structure/navigation, trust/relevance, language/comprehension, therapeutic content, mode of delivery, and suggested improvements.DiscussionMany practical and psychological barriers can prevent parents of burn-injured children accessing psychosocial support and contribute to a feeling of isolation. Participants felt that the website would be a valuable addition to UK pediatric burn care. The existence of an accessible resource could help to normalize parents’ experience of their child’s injury and reduce their perceived isolation, although peer interaction is not provided by the website.Practical valueThis online resource, hosting information and peers’ personal experiences, offers promising and exciting opportunities to empower parents whilst providing accessible supportive advice to encourage self-care and formal/informal support seeking when necessary.     

The effect of web-based preoperative information on parents of children who are going through elective ambulatory surgery: A systematic review and meta-analysis

ObjectiveTo evaluate the effect of preoperative web-based information to parents of children undergoing elective ambulatory surgery performed with anesthesia. Outcome measures were parental anxiety, knowledge, and satisfaction.MethodThe review followed the PRISMA statement. A systematic search of six databases was conducted. Randomized controlled trials, cluster-randomized trials and quasi-randomized controlled trials were eligible for inclusion.ResultEight studies were included. An effect in favour of web-based information compared to standard information was observed for parental anxiety measured before separation from child (SMD=?0.66, 95% CI=?0.92 to ?0.40) and after surgery (SMD=?0.55, 95% CI=?0.95 to ?0.16), for parental knowledge measured in-hospital (SMD=1.10, Cl 95%=0.37–1.82), and parental satisfaction after discharge (SMD=1.03, 95% Cl=0.41–1.65). No effect was observed for anxiety at separation, and for satisfaction in-hospital. The certainty of the evidence varied from very low to moderate.ConclusionDepending on the timing of assessment, web-based information before pediatric surgery may reduce the level of parental anxiety and increase the level of parental knowledge and satisfaction more than standard care.Practice implicationsWeb-based routines can be used to convey pre-operative information to parents before paediatric ambulatory surgery. Still, standardized research that enables further comparison across studies is needed.     

Physical activity in child and adolescent cancer survivors: a review

Abstract

Childhood cancer survivors are at increased risk for future health problems. As such, physical activity (PA) has been targeted as a health promotion priority in child and adolescent cancer survivors. Research indicates that a large portion of pediatric survivors do not meet PA recommendations. Using Bronfenbrenner's ecological theory as a framework, this review presents a conceptual model to explain child and adolescent survivors' PA. The model considers predictors of PA across six domains: (1) demographic, (2) medical, (3) cognitive/emotional, (4) behavioural, (5) social/cultural and (6) environmental. A structured literature review found 14 empirical articles examining those predictors of PA among child and adolescent cancer survivors. Much existing research is cross-sectional, but suggests multiple factors work together to encourage or discourage PA among survivors of child/adolescent cancer. The conceptual model, which is based in empirical findings to date, can be used to understand the process through which PA is promoted and maintained, to inform the development of empirically-supported clinical interventions, and to guide future research objectives and priorities.     

Healthcare professionals’ behaviour regarding the implementation of shared decision-making in screening programmes: A systematic review

ObjectiveTo explore the barriers to and facilitators of healthcare professionals’ implementation of SDM regarding screening programmes.MethodA systematic review was conducted in PubMed, Cochrane Library, CINHAL, and PsyscInfo. The barriers and facilitators identified were classified into three factors based on their origin: patients, healthcare system performance, and healthcare professionals themselves.ResultsEight studies were selected: seven related to cancer screening. The most significant facilitators were literacy and interest in active participation, both of which have their origins in patients. The most significant barriers identified for the first time in a systematic review were legal conflict, lack of remuneration and lack of flexibility in clinical guidelines in screening programmes.ConclusionThe results of this study show that there are differences between barriers and facilitators for SDM when it is applied in the context of healthy people who perform preventive activities, particularly screening, in contrast to general medical consultation contexts.Practical implicationsThe authors suggest that to advance in the practice of SDM, we need to develop and disseminate training documents. Further, SDM should be incorporated into clinical guidelines. There should be more studies focusing on healthcare professionals’ behaviour within the context of the uncertainty of screening programmes.     

‘More than a box of puzzles’: Understanding the parental experience of having a child with a rare genetic condition"

BackgroundChromosomal microarray (CMA) testing has been adopted as the first-tier diagnostic test for developmental disabilities. However, determining the clinical significance of the results is often complex. This qualitative study seeks to explore parental interpretation, adaption and coping in the context of ambiguous rare genetic findings in order to support parental adjustment and wellbeing.MethodsIn-depth interviews were conducted with parents (n = 30) of children identified with a rare genetic chromosomal abnormality.ResultsThree major themes were identified following a thematic analysis: ‘Learning of the Genetic Diagnosis', “The Reality of the Rarity’ and ‘Beyond Genetics: The Child Takes Centre Stage’. Findings demonstrated that parental adjustment to their child's genetic results are mediated by several factors including child difficulties and stage of development, clinician communication, perception of genetics, intrinsic coping strategies, access to practical and emotional support as well as broader contextual experiences.ConclusionThis study highlights the importance of considering the parental perspective in the context of genetic testing in clinical practice.