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.

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.

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.

Adolescent bariatric surgery: a systematic review of recommendation documents.

Bariatric surgery has been performed on adolescents since the 1970s, but little is known about the guidance offered to providers in recommendation documents published in the United States. A systematic review was conducted to generate a complete record of all US recommendation documents and describe variability across the documents. This study had 3 aims: to identify the developers, examine selection criteria, and document reasons why developers have recommended this intervention for adolescents. Four databases (MEDLINE, National Guidelines Clearinghouse, Trip, and Embase) ertr searched, followed by a hand search. Documents were eligible for inclusion if they satisfied 5 criteria: written in the English language; developed and published by a US organization; comprised a clinical practice guideline, position statement, or consensus statement; offered a minimum 1-sentence recommendation on bariatric surgery for the treatment of obesity or related co-morbidities; and offered a minimum 1-sentence recommendation on bariatric surgery for children, adolescents, or both. No date limits were applied. Sixteen recommendation documents published between 1991 and 2013 met our inclusion criteria: 10 clinical practice guidelines, 4 position statements, and 2 consensus statements. Nine were produced by medical organizations, 3 by surgical organizations, and 4 by public health/governmental bodies. One document recommended against bariatric surgery for minors, and 15 endorsed the intervention for this population. Body mass index (a measure of obesity calculated by dividing weight in kilograms by the square of height in meters) thresholds were the selection criteria most often provided. Minimum age varied widely. Of the 15 endorsing documents, 10 provided a reason for performing bariatric surgery on minors, most often to treat obesity-related co-morbidities that threaten the health of the adolescent. We make 3 suggestions to improve the quality of future recommendation documents.

Primary care providers' experiences notifying parents of cystic fibrosis newborn screening results.

This study examines primary care provider (PCP) experiences with the initial parental disclosure of cystic fibrosis (CF) newborn screening (NBS) results in order to identify methods to improve parent-provider communication during the CF NBS process. PCPs of infants who received positive CF NBS results participated in semistructured phone interviews. Interviews were analyzed using a qualitative content analysis. PCPs acknowledged the difficulty of "breaking bad news" to parents, and emphasized minimizing parental anxiety and maximizing parental understanding. PCPs used a variety of methods to notify parents, and shared varying information about the significance of the results. Variation in the method of parental notification, information discussed, and attention to parents' emotional needs may limit successful follow-up of children with positive CF NBS results. A multifaceted intervention to improve PCP knowledge, management, and communication could improve provider confidence, optimize information transfer, and minimize parental distress during the initial disclosure of CF NBS results.

A policy impact analysis of the mandatory NCAA sickle cell trait screening program.

OBJECTIVE: To estimate the impact of the mandatory National Collegiate Athletic Association (NCAA) sickle cell trait (SCT) screening policy on the identification of sickle cell carriers and prevention of sudden death. DATA SOURCE: We used NCAA reports, population-based SCT prevalence estimates, and published risks for exercise-related sudden death attributable to SCT. STUDY DESIGN: We estimated the number of sickle cell carriers identified and the number of potentially preventable sudden deaths with mandatory SCT screening of NCAA Division I athletes. We calculated the number of student-athletes with SCT using a conditional probability based upon SCT prevalence data and self-identified race/ethnicity status. We estimated sudden deaths over 10 years based on published attributable risk of exercise-related sudden death due to SCT. PRINCIPAL FINDINGS: We estimate that over 2,000 NCAA Division I student-athletes with SCT will be identified under this screening policy and that, without intervention, about seven NCAA Division I student-athletes would die suddenly as a complication of SCT over a 10-year period. CONCLUSION: Universal sickle cell screening of NCAA Division I student-athletes will identify a substantial number of sickle cell carriers. A successful intervention could prevent about seven deaths over a decade.

Genetic screening.

Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element-information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach.

Afraid in the hospital: parental concern for errors during a child's hospitalization.

OBJECTIVE: (1) To determine the proportion of parents concerned about medical errors during a child's hospitalization; and (2) the association between this concern and parental self-efficacy with physician interactions. STUDY DESIGN: Cross-sectional survey. SETTING: Tertiary care children's hospital. PARTICIPANTS: Parents of children admitted to the general medical service. OUTCOME MEASURE: Parental concern about medical errors. METHODS: : Parents were asked their agreement with the statement "When my child is in the hospital I feel that I have to watch over the care that he/she is receiving to make sure that mistakes aren't made." We used multivariate logistic regression to examine the association between parents' self-efficacy with physician interactions and the need "to watch over a child's care," adjusting for parent and child demographics, English proficiency, past hospitalization, and social desirability bias. RESULTS: Of 278 eligible parents, 130 completed surveys and 63% reported the need to watch over their child's care to ensure that mistakes were not made. Parents with greater self-efficacy with physician interactions were less likely to report this need (odds ratio [OR], 0.83; 95% confidence interval [CI], 0.72-0.92). All parents who were "very uncomfortable" communicating with doctors in English reported the need to watch over their child's care to prevent mistakes. CONCLUSIONS: Nearly two-thirds of surveyed parents felt the need to watch over their child's hospital care to prevent mistakes. Parents with greater self-efficacy with physician interactions were less likely to report the need to watch over their child's care while parents with lower English proficiency were more likely to report this need.