Development and validation of a measure of adolescent and young adult goal-based quality of life (MAYA-GQOL).

PURPOSE: We developed and validated a measure assessing quality of life (QOL) through importance, attainability, and discrepancy of life goals among adolescents and young adults (AYA) with and without cancer. A specific goal-based QOL measure for AYA fills a critical gap in knowledge for AYA who are at a unique life stage, which may include shifts in priorities and goals. METHODS: Through review of our existing AYA databases on goals, the literature, and cognitive interviews we developed the MAYA-GQOL. Items were administered to AYA with cancer (on/off treatment) (n = 124) and healthy AYA controls (n = 103) aged 15-29 years old. Psychometric analyses for comparison with existing QOL measures and discrepancies in perceived importance/attainability of goals were examined. RESULTS: An item pool of 700 goals, based on prior research, was refined to 173 goals across nine categories: academic, administrative, body, health, job, leisure, interpersonal, intrapersonal, and religion. Validation between the MAYA-GQOL and existing QOL measures was supported. AYA survivors reported fewer overall current goals and fewer administrative, interpersonal, leisure, and religious goals. AYA survivors rated body goal importance significantly higher than healthy controls and intrapersonal goal importance significantly lower. Little discrepancy in importance and attainability across AYA was found. CONCLUSIONS: The MAYA-GQOL represents an innovative way of measuring QOL among AYA by focusing on the relative importance, attainability, and discrepancy of developmentally appropriate goals. The MAYA-GQOL can identify areas of resilience and competence via assessment of important and attainable goals and can further assess how AYA with chronic illness are functioning relative to peers on goal domains relevant to the AYA developmental period.

Family factors and health-related quality of life within 6 months of completion of childhood cancer treatment.

OBJECTIVE: The transition from active cancer treatment to survivorship represents a period of uncertainty for youth and their families, but factors associated with adaptation during this period are understudied. We evaluated associations among cancer and treatment-related variables, family factors (family functioning, caregiver health-related quality of life [HRQL], and caregiver distress), and patient HRQL after treatment completion. We assessed the indirect effects of neurocognitive difficulties on youth HRQL through family factors. METHODS: One hundred fifty-four caregivers (of patients' ages 0-18 years) and 52 youth (ages 7-18 years) completed questionnaires assessing family factors, neurocognitive difficulties, and HRQL for patients within 6 months following treatment completion. Electronic health records were reviewed for cancer and treatment-related information. Bootstrapping analyses assessed whether neurocognitive function had indirect effects on HRQL through family factors. RESULTS: Family factors were associated with self- and caregiver reports of children's HRQL. Controlling for demographic, cancer, and treatment covariates, caregiver reports of their child's neurocognitive difficulties had an indirect effect on their reports of child physical HRQL through family functioning. Caregiver reports of their child's neurocognitive difficulties indirectly related to caregiver reports of child psychosocial HRQL through family functioning and caregiver HRQL. Indirect effects for self-reported neurocognitive difficulties and HRQL were not supported. CONCLUSIONS: Findings highlight the need for routine psychosocial screening for youth and caregiver reports of family adjustment and HRQL during the transition off treatment. Providers are encouraged to offer interventions matched to specific needs for families at risk for poor family functioning to improve patient outcomes as they transition off treatment.

Outcomes among pediatric patients with cancer who are treated on trial versus off trial: A matched cohort study.

BACKGROUND: Approximately 50% of children with cancer in the United States who are aged <15 years receive primary treatment on a therapeutic clinical trial. To the authors' knowledge, it remains unknown whether trial enrollment has a clinical benefit compared with the best alternative standard therapy and/or off trial (ie, clinical trial effect). The authors conducted a retrospective matched cohort study to compare the morbidity and mortality of pediatric patients with cancer who are treated on a phase 3 clinical trial compared with those receiving standard therapy and/or off trial. METHODS: Subjects were aged birth to 19 years; were diagnosed between 2000 and 2010 with acute lymphocytic leukemia (ALL), acute myeloid leukemia (AML), rhabdomyosarcoma, or neuroblastoma; and had received initial treatment at the Children's Hospital of Philadelphia. On-trial and off-trial subjects were matched based on age, race, ethnicity, a diagnosis of Down syndrome (for patients with ALL or AML), prognostic risk level, date of diagnosis, and tumor type. RESULTS: A total of 428 participants were matched in 214 pairs (152 pairs for ALL, 24 pairs for AML, 32 pairs for rhabdomyosarcoma, and 6 pairs for neuroblastoma). The 5-year survival rate did not differ between those treated on trial versus those treated with standard therapy and/or off trial (86.9% vs 82.2%; P = .093). On-trial patients had a 32% lower odds of having worse (higher) mortality-morbidity composite scores, although this did not reach statistical significance (odds ratio, 0.68; 95% confidence interval, 0.45-1.03 [P = .070]). CONCLUSIONS: There was no statistically significant difference in outcomes noted between those patients treated on trial and those treated with standard therapy and/or off trial. However, in partial support of the clinical trial effect, the results of the current study indicate a trend toward more favorable outcomes in children treated on trial compared with those treated with standard therapy and/or off trial. These findings can support decision making regarding enrollment in pediatric phase 3 clinical trials.

Parental Attitudes Towards Prenatal Genetic Testing For Sickle Cell Disease.

Uptake of prenatal genetic testing (PGT) is low among those with sickle cell disease (SCD). This study evaluated the association of knowledge and attitudes towards prenatal genetic counseling (PGC), awareness of posttesting intervention options and omission bias with attitudes towards PGT. In addition, we explored changes among knowledge, attitudes, and awareness of options following exposure to an educational, clinical vignette among parents of children with SCD. Parents (n=44) completed a questionnaire and an educational, clinical vignette presenting a detailed account of a pregnant woman with sickle cell trait seeking PGT and PGC was read to each participant. t Tests, Spearman correlations, multivariable regressions, and moderation/mediation analyses were used. More positive attitudes towards PGC (P=0.01), lesser tendency of omission bias (P<0.01) and private insurance (P=0.04) were significant correlates of more positive attitudes towards PGT. Omission bias mediated the relationship of attitudes towards PGC and attitudes towards PGT (95% confidence interval: 0.13, 3.03). Awareness of options (P=0.02), knowledge of PGC (P=0.01) and knowledge of PGT (P=0.01) significantly improved after exposure to the clinical vignette. Patients and families with SCD can benefit from education about the importance of prenatal diagnosis to improve attitudes, address omission bias and promote more informed decisions of PGT.

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing.

PURPOSE: The risks, benefits, and utilities of multiplex panels for breast cancer susceptibility are unknown, and new counseling and informed consent models are needed. We sought to obtain patient feedback and early outcome data with a novel tiered-binned model for multiplex testing. METHODS: BRCA1/2-negative and untested patients completed pre- and posttest counseling and surveys evaluating testing experiences and cognitive and affective responses to multiplex testing. RESULTS: Of 73 patients, 49 (67%) completed pretest counseling. BRCA1/2-negative patients were more likely to proceed with multiplex testing (86%) than those untested for BRCA1/2 (43%; P < 0.01). Many patients declining testing reported concern for uncertainty and distress. Most patients would not change anything about their pre- (76%) or posttest (89%) counseling sessions. Thirty-three patients (72%) were classified as making an informed choice, including 81% of those who proceeded with multiplex testing. Knowledge increased significantly. Anxiety, depression, uncertainty, and cancer worry did not significantly increase with multiplex testing. CONCLUSION: Some patients, particularly those without prior BRCA1/2 testing, decline multiplex testing. Most patients who proceeded with testing did not experience negative psychological responses, but larger studies are needed. The tiered-binned approach is an innovative genetic counseling and informed consent model for further study in the era of multiplex testing.Genet Med 18 1, 25-33.

Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study.

BACKGROUND: Videoconferencing has been used to expand medical services to low-access populations and could increase access to genetic services at community sites where in-person visits with genetic providers are not available. OBJECTIVE: To evaluate the feasibility of, patient feedback of, and cognitive and affective responses to remote two-way videoconferencing (RVC) telegenetic services at multiple sociodemographically diverse community practices without access to genetic providers. METHODS: Patients at 3 community sites in 2 US states outside the host center completed RVC pretest (visit 1, V1) and post-test (visit 2, V2) genetic counseling for cancer susceptibility. Surveys evaluated patient experiences, knowledge, satisfaction with telegenetic and cancer genetics services, anxiety, depression, and cancer worry. RESULTS: A total of 82 out of 100 (82.0%) approached patients consented to RVC services. A total of 61 out of 82 patients (74%) completed pretest counseling and 41 out of 61 (67%) proceeded with testing and post-test counseling. A total of 4 out of 41 (10%) mutation carriers were identified: BRCA2, MSH2, and PMS2. Patients reported many advantages (eg, lower travel burden and convenience) and few disadvantages to RVC telegenetic services. Most patients reported feeling comfortable with the video camera--post-V1: 52/57 (91%); post-V2: 39/41 (95%)--and that their privacy was respected--post-V1: 56/57 (98%); post-V2: 40/41 (98%); however, some reported concerns that RVC might increase the risk of a confidentiality breach of their health information--post-V1: 14/57 (25%); post-V2: 12/41 (29%). While the majority of patients reported having no trouble seeing or hearing the genetic counselor--post-V1: 47/57 (82%); post-V2: 39/41 (95%)--51 out of 98 (52%) patients reported technical difficulties. Nonetheless, all patients reported being satisfied with genetic services. Compared to baseline, knowledge increased significantly after pretest counseling (+1.11 mean score, P=.005); satisfaction with telegenetic (+1.74 mean score, P=.02) and genetic services (+2.22 mean score, P=.001) increased after post-test counseling. General anxiety and depression decreased after pretest (-0.97 mean anxiety score, P=.003; -0.37 mean depression score, P=.046) and post-test counseling (-1.13 mean anxiety score, P=.003; -0.75 mean depression score, P=.01); state anxiety and cancer-specific worry did not significantly increase. CONCLUSIONS: Remote videoconferencing telegenetic services are feasible, identify genetic carriers in community practices, and are associated with high patient satisfaction and favorable cognitive and affective outcomes, suggesting an innovative delivery model for further study to improve access to genetic providers and services. Potential barriers to dissemination include technology costs, unclear billing and reimbursement, and state requirements for provider licensure.

Adolescent, Parent, and Clinician Perspectives on Increasing Adolescent Involvement in Decision-Making During Clinic Visits.

INTRODUCTION: This study aimed to describe adolescent, parent, and clinician ideas for enhancing adolescent decision-making involvement (DMI) during clinic visits for chronic illness. METHOD: Adolescents who recently attended a follow-up visit for a chronic illness, their parents, and clinicians were interviewed. Participants completed semistructured interviews; transcripts were coded and analyzed in NVivo. Responses to questions about ideas to increase adolescent DMI were reviewed and sorted into categories and themes. RESULTS: There were five themes: (1) adolescents need to understand their condition and regimen, (2) adolescents and parents should prepare before the visit, (3) clinicians and adolescents should have one-on-one time, (4) opportunities for condition-specific peer support would be helpful, and (5) clinicians and parents should engage in specific communication behaviors. DISCUSSION: Findings from this study highlight potential clinician-, parent-, and adolescent-focused strategies for enhancing adolescent DMI. Clinicians, parents, and adolescents may need specific guidance on how to enact new behaviors.

Development of Training in Problem Solving for Caregivers of Childhood Brain Tumor Survivors.

BACKGROUND: Family management (FM) challenges of maternal caregivers of young adult survivors of childhood brain tumors are well documented, but there are no evidence-based caregiver interventions to improve FM. OBJECTIVES: The aims of this study were to (1) generate the knowledge necessary for developing a caregiver intervention (stage 0) and (2) modify an existing, efficacious intervention by engaging stakeholders (stage 1). METHODS: Stages 0 and 1 of the National Institutes of Health Stage Model for Behavioral Intervention Development and the FM Styles Framework were used in this study. RESULTS: In stage 0, families with condition-focused FM patterns were identified as at risk for poor problem solving. The 12-item Condition Management Ability scale of the FM Measures was selected as the screener to identify condition-focused maternal caregivers. Problem solving was identified as a potential mechanism for promoting behavior change. In stage 1, Bright IDEAS for Everyday Living was modified by integrating the FM Styles Framework creating Training in Problem Solving for Caregivers of Young Adult Survivors of Childhood Brain Tumors. Qualitative and quantitative assessments of feasibility and acceptability by maternal caregivers were excellent and used to improve selected areas of concern. CONCLUSION: Feedback from stakeholders indicates that Training in Problem Solving is a promising approach to shifting FM patterns and improving the functioning of caregivers, young adult survivors, and families. IMPLICATIONS FOR NURSING PRACTICE: When developing interventions, the use of systemic methods can provide both clinically based and scientifically acceptable solutions. Those interventions based on both problem solving and FM are potentially promising but need further testing.

Evaluation of the Pediatric Research Participation Questionnaire for Measuring Attitudes Toward Cancer Clinical Trials Among Adolescents and Young Adults.

Purpose: Reasons for the relatively low rates of adolescent and young adults (AYA) enrollment in cancer clinical trials in the United States require further empirical examination. In addition to structural factors such as lack of access and insurance barriers, attitudes toward clinical trials may be important to consider. This study aimed to evaluate and validate the Pediatric Research Participation Questionnaire (PRPQ)-a measure of attitudes to clinical trials adapted for AYA (15-29) with cancer and their caregivers. Methods: One hundred twenty-four AYA and 94 caregivers completed the PRPQ-AYA and measures of clinical trial knowledge and developmental/emotional maturity. Factor analysis evaluated the PRPQ-AYA structure, interitem reliability was computed, and Pearson correlations examined associations of validation measures with factor scores and computed scores reflecting perceived barriers, perceived benefits, and decision balance. Results: Confirmatory factor analysis did not confirm the prior PRPQ factor structure. Exploratory factor analysis suggested a new four-factor structure for: AYA (1) trust/mistrust, (2) barriers/costs, (3) support for participation, and (4) incentives; and caregivers (1) trust/access, (2) mistrust/costs, (3) support for participation, and (4) risks to AYA. Factor scores and barriers, benefits, and decision balance scores demonstrated acceptable interitem reliability and were significantly correlated with clinical trial knowledge and emotional maturity in the expected direction. Conclusion: PRPQ-AYA factor structure for AYA and caregivers varied and should be interpreted cautiously due to limited power. Simple solutions of perceived benefits, perceived barriers, and decision balance were reliable and valid and provide important information to address and engage AYA through the clinical trial informed consent process.

Acceptability of In Utero Hematopoietic Cell Transplantation for Sickle Cell Disease.

BACKGROUND: In utero hematopoietic cell transplantation (IUHCT) has curative potential for sickle cell disease (SCD) but carries a risk of fetal demise. METHODS: We assessed the conditions under which parents of children with SCD and young adults with SCD would consider IUHCT in a future pregnancy, given a 5% fixed risk of fetal demise. Participants were randomized to consider a hypothetical cure rate (20%, 40%, or 70%). Subsequently, cure rate was either increased or decreased depending on the previous answer to reveal the lowest acceptable rate. Participants also completed the Pediatric Research Participation Questionnaire (PRPQ) and an omission scale. RESULTS: Overall, 74 of 79 (94%) participants were willing to consider IUHCT, and 52 (66%) participants accepted IUHCT at a cure rate of 40%, the estimated rate of therapeutic mixed chimerism. Participants with higher scores on the PRPQ perceived benefits scale were more likely to participate at lower cure rates (OR 1.08, p=0.007) and participants with a greater degree of omission bias were less likely to participate at lower cure rates (OR 0.83, p=0.04). Demographics and SCD severity were not significantly associated with acceptability of IUHCT. CONCLUSION: This study suggests that the majority of parents >and young adults would consider IUHCT under expected therapeutic conditions.

Mistrust of Pediatric Sickle Cell Disease Clinical Trials Research.

INTRODUCTION: Sickle cell disease (SCD) research is hampered by disparities in participation due in part to mistrust of research among racial/ethnic minorities. Beyond the historic context of research misconduct, little is known about the associations of social ecologic factors with mistrust and of mistrust with SCD clinical trials enrollment. This study evaluated proximal (age, gender, disease severity, perceived stress, SES) and distal (religious beliefs, social support, instrumental support) factors related to mistrust of research among caregivers of children with SCD and adolescents and young adults (AYAs) with SCD. METHODS: Over an 18-month period (2009-2010), participants completed questionnaires of perceived barriers and benefits to clinical trials enrollment, perceived stress, and self-reported demographic and disease-related information. Analyses (January-June 2015) used multivariable linear regressions to evaluate predictors of mistrust. RESULTS: Data were analyzed for 154 caregivers (mean age, 38.75 years; SD=9.56 years; 90.30% female) and 88 AYAs (mean age, 24.76 years; SD=7.25 years; 46.40% female). Among caregivers (full model, R(2)=0.14, p≤0.001), greater mistrust was explained by higher perceived stress (ß=0.04, p=0.052); religious beliefs (ß=0.61, p≤0.001); and greater instrumental support (ß=0.07, p=0.044). Among AYAs (full model, R(2)=0.18, p≤0.001), higher mistrust was explained by being male (ß=-0.56, p≤0.001) and lower instrumental support (ß=-0.11, p=0.016). Mistrust was significantly greater among caregivers that reported no prior involvement in medical research (p=0.003). CONCLUSIONS: By understanding the complexity through which social ecologic factors contribute to mistrust, researchers may create targeted strategies to address mistrust and increase engagement in SCD research for caregivers and AYAs.

Development of a communication protocol for telephone disclosure of genetic test results for cancer predisposition.

BACKGROUND: Dissemination of genetic testing for disease susceptibility, one application of "personalized medicine", holds the potential to empower patients and providers through informed risk reduction and prevention recommendations. Genetic testing has become a standard practice in cancer prevention for high-risk populations. Heightened consumer awareness of "cancer genes" and genes for other diseases (eg, cardiovascular and Alzheimer's disease), as well as the burgeoning availability of increasingly complex genomic tests (ie, multi-gene, whole-exome and -genome sequencing), has escalated interest in and demand for genetic risk assessment and the specialists who provide it. Increasing demand is expected to surpass access to genetic specialists. Thus, there is urgent need to develop effective and efficient models of delivery of genetic information that comparably balance the risks and benefits to the current standard of in-person communication. OBJECTIVE: The aim of this pilot study was to develop and evaluate a theoretically grounded and rigorously developed protocol for telephone communication of BRCA1/2 (breast cancer) test results that might be generalizable to genetic testing for other hereditary cancer and noncancer syndromes. METHODS: Stakeholder data, health communication literature, and our theoretical model grounded in Self-Regulation Theory of Health Behavior were used to develop a telephone communication protocol for the communication of BRCA1/2 genetic test results. Framework analysis of selected audiotapes of disclosure sessions and stakeholders' feedback were utilized to evaluate the efficacy and inform refinements to this protocol. RESULTS: Stakeholder feedback (n=86) and audiotapes (38%, 33/86) of telephone disclosures revealed perceived disadvantages and challenges including environmental factors (eg, non-private environment), patient-related factors (eg, low health literacy), testing-related factors (eg, additional testing needed), and communication factors (eg, no visual cues). Resulting modifications to the communication protocol for BRCA1/2 test results included clarified patient instructions, scheduled appointments, refined visual aids, expanded disclosure checklist items, and enhanced provider training. CONCLUSIONS: Analyses of stakeholders' experiences and audiotapes of telephone disclosure of BRCA1/2 test results informed revisions to communication strategies and a protocol to enhance patient outcomes when utilizing telephone to disclose genetic test results.

Implementation and outcomes of telephone disclosure of clinical BRCA1/2 test results.

OBJECTIVES: With an increasing demand for genetic services, effective and efficient delivery models for genetic testing are needed. METHODS: In this prospective single-arm communication study, participants received clinical BRCA1/2 results by telephone with a genetic counselor and completed surveys at baseline, after telephone disclosure (TD) and after in-person clinical follow-up. RESULTS: Sixty percent of women agreed to participate; 73% of decliners preferred in-person communication. Anxiety decreased from baseline to post-TD (p=0.03) and satisfaction increased (p<0.01). Knowledge did not change significantly from baseline to post-TD, but was higher post-clinical follow-up (p=0.04). Cancer patients had greater declines in state anxiety and African-American participants reported less increase in satisfaction. 28% of participants did not return for in-person clinical follow-up, particularly those with less formal education, and higher post-disclosure anxiety and depression (p<0.01). CONCLUSIONS: Telephone disclosure of BRCA1/2 test results may not be associated with negative cognitive and affective responses among willing patients, although some subgroups may experience less favorable responses. Some patients do not return for in-person clinical follow-up and longitudinal outcomes are unknown. PRACTICE IMPLICATIONS: Further evaluation of longitudinal outcomes of telephone disclosure and differences among subgroups can inform how to best incorporate telephone communication into delivery of genetic services.