Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing?

The opportunity to receive individual research results (IRRs) in accordance with personal preferences may incentivize biobank participation and maximize perceived benefit. This trial investigated the relationship between parents' preferences and intent to participate (ITP) in biobank research utilizing their child's genetic information. We randomized parents of pediatric patients to four hypothetical biobanks, one of which employed a preference-setting model for return of results regarding their child. ITP was highest among those desiring all types of IRRs (93.3%) and decreased as participants became increasingly selective with their preferences ( p < .0001). We demonstrated that most parents would participate in a biobank that allows for preference setting; however, those who set preferences to receive a narrower set of IRRs are less likely to participate.

Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.

Discussions about disclosing individual genetic research results include calls to consider participants' preferences. In this study, parents of Boston Children's Hospital patients set preferences for disclosure based on disease preventability and severity, and could exclude mental health, developmental, childhood degenerative, and adult-onset disorders. Participants reviewed hypothetical reports and reset preferences, if desired. Among 661 participants who initially wanted all results (64%), 1% reset preferences. Among 336 participants who initially excluded at least one category (36%), 38% reset preferences. Participants who reset preferences added 0.9 categories, on average; and their mean satisfaction on 0 to 10 scales increased from 4.7 to 7.2 ( p < .001). Only 2% reduced the number of categories they wanted disclosed. Findings demonstrate the benefits of providing examples of preference options and the tendency of participants to want results disclosed. Findings also suggest that preference-setting models that do not provide specific examples of results could underestimate participants' desires for information.

Family health history reporting is sensitive to small changes in wording.

PURPOSE: Family health history is often collected through single-item queries that ask patients whether their family members are affected by certain conditions. The specific wording of these queries may influence what individuals report. METHODS: Parents of Boston Children's Hospital patients were invited to participate in a Web-based survey about the return of individual genomic research results regarding their children. Participants reported whether 11 types of medical conditions affected them or their family. Randomization determined whether participants were specifically instructed to consider their extended family. RESULTS: Family health history was reported by 2,901 participants. Those asked to consider their extended family were more likely to report a positive family history for 8 of 11 medical conditions. The largest differences were observed for cancer (65.1 vs. 45.7%; P < 0.001), cardiovascular conditions (72.5 vs. 56.0%; P < 0.001), and endocrine/hormonal conditions (50.9 vs. 36.7%; P < 0.001). CONCLUSIONS: Small alterations to the way family health history queries are worded can substantially change patient responses. Clinicians and researchers need to be sensitive about patients' tendencies to omit extended family from health history reporting unless specifically asked to consider them.Genet Med 18 12, 1308-1311.

Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research.

The perceived benefit of return of individual research results (IRRs) in accordance to participants' preferences in genomic biobank research is unclear. We developed an online preference-setting tool for return of IRRs based on the preventability and severity of a condition, which included an opt-out option for IRRs for mental illness, developmental disorders, childhood-onset degenerative conditions, and adult-onset conditions. Parents of patients <18 years of age at Boston Children's Hospital were randomized to the hypothetical scenario that their child was enrolled in one of four biobanks with different policies for IRRs to receive (a) "None," (b) "All," (c) "Binary"--choice to receive all or none, and (d) "Granular"--use the preference-setting tool to choose categories of IRRs. Parents were given a hypothetical IRRs report for their child. The survey was sent to 11,391 parents and completed by 2,718. The Granular group was the most satisfied with the process, biobank, and hypothetical IRRs received. The None group was least satisfied and least likely to agree that the biobank was beneficial (p < .001). The response to the statement that the biobank was harmful was not different between groups. Our data suggest that the ability to designate preferences leads to greater satisfaction and may increase biobank participation.

The development of a preference-setting model for the return of individual genomic research results.

Understanding participants' preferences for the return of individual research results (IRR) in genomic research may allow for the implementation of more beneficial result disclosure methods. We tested four preference-setting models through cognitive interviews of parents to explore how parents conceptualize the process of setting preferences and which disease characteristics they believe to be most important when deciding what results to receive on their child. Severity and preventability of a condition were highly influential in decision making and certain groups of research results were anticipated by participants to have negative psychological effects. These findings informed the development of an educational tool and preference-setting model that can be scaled for use in the return of IRR from large biobank studies.

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

PURPOSE: Little 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. METHODS: We 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. RESULTS: Parents 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. CONCLUSIONS: It 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.

Development and validation of a measure of pediatric oral health-related quality of life: the POQL.

OBJECTIVE: To develop a brief measure of oral health-related quality of life (OHQL) in children and demonstrate its reliability and validity in a diverse population. METHODS: We administered the initial 20-item Pediatric Oral Health-Related Quality of Life (POQL) to children (Child Self-Report) and parents (Parent Report on Child) from diverse populations in both school-based and clinic-based settings. Clinical oral health status was measured on a subset of children. We used factor analysis to determine the underlying scales and then reduced the measure to 10 items based on several considerations. Multitrait analysis on the resulting 10-item POQL was used to reaffirm the discrimination of scales and assess the measure's internal consistency and interscale correlations. We established discriminant and convergent validity with clinical status, perceived oral health and responses on the PedsQL, and determined sensitivity to change with children undergoing ECC surgical repair. RESULTS: Factor analysis returned a four-scale solution for the initial items--Physical Functioning, Role Functioning, Social Functioning, and Emotional Functioning. The reduced items represented the same four scales--two each on Physical and Role and three each on Social and Emotional. Good reliability and validity were shown for the POQL as a whole and for each of the scales. CONCLUSIONS: The POQL is a valid and reliable measure of OHQL for use in preschool and school-aged children, with high utility for both clinical assessments and large-scale population studies.

Unmet dental needs and barriers to care for children with significant special health care needs.

PURPOSE: The purpose of this study was to conduct the first known large scale survey of parents of children with special health care needs (CSHCN) to determine their child's: oral health status; access to dental care; perceived barriers (environmental/system and nonenvironmental/family); and oral health quality of life, accounting for each child's medical diagnosis and severity of diagnosis. METHODS: A 72-item survey was sent to 3760 families of CSHCN throughout urban and rural Massachusetts. RESULTS: The study yielded 1,128 completed surveys. More than 90% of the children had seen a dentist within the past year; 66% saw a pediatric dentist, and 21% needed intense behavioral interventions. Although most families had high education levels, private dental insurance, and above average incomes, 20% of CSHCN had an unmet dental need. Children with craniofacial anomalies had twice as many unmet needs and children with cystic fibrosis had fewer unmet needs. Children with cerebral palsy, autism, developmental delay, and Down syndrome had more aversions to dental treatment, more treatment complications posed by their medical conditions, and more difficulty finding a dentist willing to provide care. Children with cystic fibrosis, metabolic disorders, or hemophilia encountered fewer barriers to care. CONCLUSIONS: The data paint a picture of high unmet dental needs with subpopulations of children with special health care needs who are more at risk for system barriers and internal family barriers to care based on their medical diagnoses.

Caries-risk factors for Hispanic children affected by early childhood caries.

PURPOSE: The purpose of this study was to examine factors associated with early childhood caries (ECC) and to develop a profile of risk factors for Hispanic families affected by this condition. METHODS: Sixty Hispanic families with at least 1 child affected by ECC and 60 Hispanic families without any affected children were included in the study. Data was collected using a parent-completed questionnaire which gathered information about family demographics, dental care and hygiene practices, and feeding practices of the children. RESULTS: Parents in families without ECC were significantly more likely to have visited the dentist recently and the children were less likely to sleep while feeding compared to families with an ECC-affected child. Within families affected by ECC, siblings with ECC were significantly more likely to use the bottle and to sleep while feeding compared with their siblings without ECC. Fifty-five percent of the subject families had more than 1 child affected by ECC. However, odds ratios did not indicate an increased risk of ECC among younger siblings in the presence of affected older siblings. CONCLUSIONS: The current study, while supporting the long-held belief that feeding practices influence the susceptibility and course of ECC, demonstrates the role of other nonfeeding practices.