Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.

Neither direct-to-consumer (DTC) genetic testing nor predictive genetic testing for adult-onset conditions is recommended for minor children due to ethical concerns and low clinical utility. However, parents with pathogenic variants (PVs) in disease-causing genes may be interested in pursuing genetic testing that includes the familial PV for their children. The Pediatric Testing Attitudes Scale (P-TAS) was previously developed to examine high-risk parents' opinions about pediatric BRCA genetic testing for adult-onset breast/ovarian cancer. Here, the psychometric properties of the P-TAS were examined in a new sample of N = 126 parents (M age = 47.2 years) with PVs in a more complete set of cancer risk genes represented on DTC panel tests. The mean score on the P-TAS was 44 out of a maximum score of 60, indicating that a majority of parents generally held favorable opinions about testing their children for adult-onset inherited cancer syndromes. The internal consistency of the full scale was high (α = 0.91). A factor analysis identified two-component scales, labeled Attitudes and Beliefs (α = 0.93) and Decision Making and Communication (α = 0.83). In a multivariable regression model, P-TAS co-factors accounted for 34% of variance in parental opinions, including the frequency of prior family communication about cancer and the likelihood of utilizing DTC genetic testing with children (R2  = 0.34, p < 0.001). Results suggest that the P-TAS remains a reliable measure to assess high-risk parents' opinions about pediatric DTC genetic testing for adult-onset conditions, with promising validity. Applications of the P-TAS include informing genetic counseling practice, pediatric medical care, and policy guidelines surrounding DTC genetic testing.

Healthcare team communication training in the United States: A scoping review.

The purpose of this literature review was to identify interventions designed to improve healthcare team communication in the United States. We conducted a review of peer-reviewed, English-language articles describing interventions aimed at improving healthcare team communication. We analyzed articles that met pre-specified inclusion and exclusion criteria and characterized who is testing communication interventions, the rationale for testing, and ways of measuring effectiveness. We descriptively categorized the strength and types of study findings. Thirty articles were retained in our analysis. Most assessments were conducted by academic medical centers, the Veterans Health Administration, and teaching hospitals. Interventions sought to improve teamwork, patient safety, clinical outcomes, costs of care, and enhance provider job satisfaction and well-being. Intervention strategies included didactic lectures, simulation, Crew Resource Management, quality improvement, or a combination of these approaches. The vast majority employed a pre-post survey design and measured outcomes using participant feedback. Many assessments failed to utilize a social science theory or communication-specific measures. Interventions with the best training content were conducted at academic medical centers, used a pre-post design, and utilized statistical analysis to analyze results. While interventions for improving healthcare team communication are diverse and have uneven effectiveness, early markers of success merit continued development and assessment.

Elevated Parental Stress Is Associated With Lower Self-Efficacy in Provider Communication During a Pandemic.

BACKGROUND: Effective communication between physician and parent promotes a successful alliance with families. The association of parental stress with self-efficacy when communicating during parent-physician interactions is unknown in the context of a pandemic. OBJECTIVES: Objectives of this study include quantifying and comparing the stress experienced by parents of hospitalized children before and after onset of the COVID-19 pandemic and examining the relationship of stress with self-efficacy in parent-physician communication during interactions throughout hospitalization. METHODS: We conducted in-person surveys of parents of children aged 3 months to 17 years hospitalized at a quaternary-level children's hospital, before and after onset of COVID-19. Parents completed 2 validated tools: Parenting Stress Index (PSI-SF) and the Perceived Efficacy in Parent-Physician Interactions (PEPPI), measuring self-efficacy in communicating with physicians. Socioeconomic data were collected. Fisher exact test and t test were used to compare score proportions and means; linear regression was used to evaluate association between PSI-SF and PEPPI with confounder adjustments. RESULTS: Forty-nine parents were recruited; the majority identified as non-White and female. An inverse relationship was noted between the total stress score and parental self-efficacy, which only attained statistical significance in the post-COVID-19 cohort (P = .02, multivariate P = .044). A significant increase in the mean was observed for subscale scores of Difficult Child (P = .019) and Parent-Child Dysfunctional Interaction after COVID-19 (P = .016). CONCLUSIONS: Elevated parental stress is associated with decreased self-efficacy during parent-physician interactions and it worsened during the pandemic. Future studies should examine the effect of different communication styles on parental stress and self-efficacy during hospitalization.

Parents' Experiences and Needs Regarding Infant Sickle Cell Trait Results.

BACKGROUND AND OBJECTIVE: Sickle cell trait (SCT) has reproductive implications and can rarely cause health problems. SCT counseling improves parent knowledge but is infrequently received by children with SCT compared with children with cystic fibrosis carrier status. There are no national guidelines on SCT disclosure timing, frequency, or counseling content. Parents' experiences with SCT disclosure and counseling are poorly understood but could inform the development of guidelines. We explored parents' experiences with and desires for SCT disclosure and counseling for their infants with SCT identified via newborn screening. METHODS: Parents of infants 2 to 12 months old with SCT were recruited through a state newborn screening program for semistructured interviews to explore their experiences with and desires for SCT disclosure and counseling. Inductive thematic analysis was conducted. RESULTS: Sixteen interviews were completed from January to August 2020. Most parents reported that SCT disclosure occurred soon after birth, in person, and by the child's physician. Five themes were identified: parent knowledge before child's SCT disclosure, family planning, the dynamics of SCT disclosure and counseling, emotions and actions after SCT disclosure, and parent desires for the SCT disclosure and counseling process. Two primary parent desires were revealed. Parents want more information about SCT, particularly rare symptomatology, and they want SCT counseling repeated once the child approaches adolescence. CONCLUSION: Parents report receiving their child's SCT diagnosis in the early newborn period from their child's doctor but indicate they receive incomplete information. Opportunities exist in primary care pediatrics to better align SCT disclosure timing and counseling content with parent desires.

Genomics and Newborn Screening: Perspectives of Public Health Programs.

This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials. This project aims to help programs develop policies that will aid in the integration of genomic technology. Discussion groups were conducted with the NBS Program and Laboratory Directors in the seven HRSA Regional Genomics Collaboratives (August 2014-March 2016). The discussion groups addressed expected uses of genomics, potential benefits, and challenges of integrating genomic technology, and educational needs for parents and other NBS stakeholders: Twelve focus groups were conducted, which included participants from over 40 state programs. Benefits of incorporating genomics included improving screening modalities, supporting diagnostic procedures, and screening for a wider spectrum of disorders. Challenges included the costs of genomics, the ability to educate parents and health care providers about results, and the potential negative psychosocial impact of genomic information. Attempts to address the challenges of integrating genomics must focus on preserving the child welfare goals of NBS programs. Health departments will need to explore how genomics could be used to enhance programs while maintaining universal access to screening.

Pediatrician Adherence to Guidelines for Diagnosis and Management of High Blood Pressure.

OBJECTIVES: To assess pediatrician adherence to the 2017 American Academy of Pediatrics' clinical practice guideline for high blood pressure (BP). STUDY DESIGN: Pediatric primary care practices (n = 59) participating in a quality improvement collaborative submitted data for patients with high BP measured between November 2018 and January 2019. Baseline data included patient demographics, BP, body mass index (BMI), and actions taken. Logistic regression was used to test associations between patient BP level and BMI with provider adherence to guidelines (BP measurement, counseling, follow-up, evaluation). RESULTS: A total of 2677 patient charts were entered for analysis. Only 2% of patients had all BP measurement steps completed correctly, with fewer undergoing 3-limb and ambulatory BP measurement. Overall, 46% of patients received appropriate weight, nutrition, and lifestyle counseling. Follow-up for high BP was recommended or scheduled in 10% of encounters, and scheduled at the appropriate interval in 5%. For patients presenting with their third high BP measurement, 10% had an appropriate diagnosis documented, 2% had appropriate screening laboratory tests conducted, and none had a renal ultrasound performed. BMI was independently associated with increased odds of counseling, but higher BP was associated with lower odds of counseling. Higher BP was independently associated with an increased likelihood of documentation of hypertension. CONCLUSIONS: In this multisite study, adherence to the 2017 American Academy of Pediatrics' guideline for high BP was low. Given the long-term health implications of high BP in childhood, it is important to improve primary care provider recognition and management. TRIAL REGISTRATION: ClinicalTrials.gov: NCT03783650.

Clusters of adverse childhood experiences and unmet need for care coordination.

BACKGROUND: The lack of consensus on how to measure ACEs limits our estimation of their impact on health outcomes and understanding of which ACE clusters drive unmet care coordination (CC) needs. OBJECTIVES: 1) Identify latent classes of ACEs among a representative group of U.S. children; 2) Examine the association between these classes and unmet needs for CC. PARTICIPANT AND SETTING: Using the 2016-2017 National Survey of Children's Health, we sampled children ages 0-17 the who had seen >1 healthcare provider within 12 months (n = 38,758). METHODS: We conducted latent class analyses and weighted logistic regression analyses to examine associations between latent classes and unmet need for CC. RESULTS: We identified seven distinct classes: household poverty and parental divorce, household poverty and parental death, household poverty only, household substance abuse and witnessing violence, multiple ACEs, household poverty and child discrimination, and household poverty and household mental illness. Children in the following classes had the greatest odds of unmet need for CC: household poverty only (AOR 2.0; 95% CI, 1.42-2.84), household poverty and household mental illness (AOR 1.67; 95% CI, 1.15-2.44), multiple ACEs (AOR 2.31; 95% CI, 1.53-3.50), and household poverty and child discrimination (AOR 3.55; 95% CI, 1.71-7.37). CONCLUSIONS: Children who experienced specific combinations of ACEs, have an increased risk of unmet need for CC, with those experiencing both poverty and discrimination having the highest odds of unmet need for CC. Discrimination widens the gap of unmet CC need for poor children.

The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey.

Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents' NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales-APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, an uncommon practice, and few recalled knowing results would be provided to them or their pediatrician in the first few weeks of life. Thorough explanations regarding NBS procedures and expectations were embedded within the survey to enhance and improve interpretation of survey questions. Future NBS experience surveys should utilize cognitive pretesting to capture divergent experiences and improve response validity.

Associations between Adverse Childhood Experiences and Need and Unmet Need for Care Coordination.

Introduction: Children exposed to adverse childhood experiences (ACEs) may access multiple systems of care to address medical and social complexities. Care coordination (CC) optimizes health outcomes for children with special health care needs who often use multiple systems of care. Little is known about whether ACEs are associated with need and unmet need for CC. Methods: Use of the 2016-2017 National Survey of Children's Health to identify children who saw ≥1 health care provider in the last 12 months. The study team used weighted logistic regression analyses to examine associations between 9 ACE types, ACE score and need and unmet need for CC. Results: In the sample (N=39,219, representing 38,316,004 US children), material hardship (aOR, 1.50; 95% CI, 1.29-1.75), parental mental illness (aOR, 1.31; 95% CI, 1.07-1.60), and neighborhood violence (aOR, 1.33; 95% CI, 1.01-1.74) were significantly associated with an increased need for CC. Material hardship was also associated with unmet need for CC (aOR, 2.37; 95% CI, 1.80 - 3.11). Children with ACE scores of 1, 2, 3, and ≥4 had higher odds of need and unmet need for CC than children with 0 ACEs. Discussion: Specific ACE types and higher ACE scores were associated with need and unmet need for CC. Evaluating the unique needs of children who endured ACEs should be considered in the design and implementation of CC processes in the pediatric healthcare system.

Half a Century of Wilson & Jungner: Reflections on the Governance of Population Screening.

Background: In their landmark report on the "Principles and Practice of Screening for Disease" (1968), Wilson and Jungner noted that the practice of screening is just as important for securing beneficial outcomes and avoiding harms as the formulation of principles. Many jurisdictions have since established various kinds of "screening governance organizations" to provide oversight of screening practice. Yet to date there has been relatively little reflection on the nature and organization of screening governance itself, or on how different governance arrangements affect the way screening is implemented and perceived and the balance of benefits and harms it delivers. Methods: An international expert policy workshop convened by Sturdy, Miller and Hogarth. Results: While effective governance is essential to promote beneficial screening practices and avoid attendant harms, screening governance organizations face enduring challenges. These challenges are social and ethical as much as technical. Evidence-based adjudication of the benefits and harms of population screening must take account of factors that inform the production and interpretation of evidence, including the divergent professional, financial and personal commitments of stakeholders. Similarly, when planning and overseeing organized screening programs, screening governance organizations must persuade or compel multiple stakeholders to work together to a common end. Screening governance organizations in different jurisdictions vary widely in how they are constituted, how they relate to other interested organizations and actors, and what powers and authority they wield. Yet we know little about how these differences affect the way screening is implemented, and with what consequences. Conclusions: Systematic research into how screening governance is organized in different jurisdictions would facilitate policy learning to address enduring challenges. Even without such research, informal exchange and sharing of experiences between screening governance organizations can deliver invaluable insights into the social as well as the technical aspects of governance.

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.

OBJECTIVES: To measure parental perceptions of child vulnerability, as a precursor to developing a population-scale mechanism to mitigate harm after newborn screening. STUDY DESIGN: Participants were parents of infants aged 2-5 months. Parental perceptions of child vulnerability were assessed with an adapted version of the Vulnerable Baby Scale. The scale was included in the script for a larger study of telephone follow-up for 2 newborn blood screening samples (carrier status for cystic fibrosis or sickle cell hemoglobinopathy). A comparison sample was added using a paper survey with well-baby visits to an urban/suburban clinic. RESULTS: Sample sizes consisted of 288 parents in the cystic fibrosis group, 426 in the sickle cell hemoglobinopathy group, and 79 in the clinic comparison group. Parental perceptions of child vulnerability were higher in the sickle cell group than cystic fibrosis group (P < .0001), and both were higher than the clinic comparison group (P < .0001). Parental perceptions of child vulnerability were inversely correlated with parental age (P < .002) and lower health literacy (P < .015, sickle cell hemoglobinopathy group only). CONCLUSIONS: Increased parental perceptions of child vulnerability seem to be a bona fide complication of incidental newborn blood screening findings, and healthcare professionals should be alert to the possibility. From a public health perspective, we recommend routine follow-up after incidental findings to mitigate psychosocial harm.

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails.

Newborn screening (NBS) is a well-established state-run public health program which has targeted the early identification of treatable diseases like classic galactosemia (CG) for over a decade. We describe the case of a symptomatic newborn with CG and an abnormal screen report, including positive DNA-based test, who still managed to fall through the cracks in a sub-optimally functioning NBS program, despite decades of screening experience. While much attention is paid to testing technology, this case illustrates basic minimum requirements a newborn screening program must fulfill to reliably identify and treat all affected individuals including minimum reporting requirements, case surveillance and a dedicated short-term follow-up program. In newborn screening, success is systematic.

Comparison of Video, App, and Standard Consent Processes on Decision-Making for Biospecimen Research: A Randomized Controlled Trial.

Obtaining informed consent for bloodspot research from newborn screening is particularly challenging due to the hectic environment of the postnatal period and the relatively abstract nature of future, unspecified research on the biospecimens. A randomized controlled trial was conducted in three Michigan hospitals to compare two different consent processes (video and interactive tablet "app") with standard brochure-based consent in the Michigan BioTrust for Health. Results indicated higher knowledge scores for the video and app groups as well as significantly higher scores on satisfaction, amount of information, and clarity with the information provided. More research is needed to find the right amount of information for informed decision-making, and additional feasibility studies are needed to assess implementation strategies.

Systems Integration: The Next Frontier in Newborn-Screening Timeliness.

CONTEXT: In 2015, the United States Federal Advisory Committee on Heritable Disorders in Newborns and Children issued recommendations for state-based newborn screening programs to benchmark improvements in newborn-screening timeliness. Newborn screening (NBS) timeliness encompasses the efficient collection, transportation, testing, and reporting of results. Nearly all state programs fail to achieve recommended timeliness benchmarks. OBJECTIVES: Our study explored the processes and procedures that accelerate or hamper progress toward improving NBS timeliness from a public health laboratory program perspective. DESIGN: We conducted semistructured interviews to elicit public health laboratory perspectives on NBS specimen delivery, laboratory testing and processing, communication of results to birthing providers, program staffing, and quality measures and data sharing. A content analysis explored practices, processes, and procedures related to NBS timeliness. A secondary analysis examined interorganizational strategies to enhance timeliness outcomes among NBS stakeholders. PARTICIPANTS: Ten laboratories participated in the study (n = 21 personnel). Participants included public health laboratory directors, NBS program managers, and NBS follow-up program staff. RESULTS: Efforts to improve NBS timeliness included engaging birthing providers, expanding courier services, extending operating hours, modifying staffing schedules, and implementing cross-training schedules to facilitate prompt collection, transport, and processing of NBS specimens. Sustained improvements will require implementing robust data systems, integrating laboratory and follow-up processes, and improving communication among all NBS stakeholders. Programs expressed a desire to refine timeliness metric definitions to ensure useful comparisons across states. CONCLUSIONS: Efforts to improve timeliness have accelerated in recent years; sustained progress will require increased coordination and integration among stakeholders in the NBS delivery system.