Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.

Purpose: We aimed to systematically review the literature to identify primary-care providers' perceived barriers against provision of genetics services. Methods:We systematically searched PubMed and ERIC using key and Boolean term combinations for articles published from 2001 to 2012 that met inclusion/exclusion criteria. Specific barriers were identified and aggregated into categories based on topic similarity. These categories were then grouped into themes.Results: Of the 4,174 citations identified by the search, 38 publications met inclusion criteria. There were 311 unique barriers that were classified into 38 categories across 4 themes: knowledge and skills; ethical, legal, and social implications; health-care systems; and scientific evidence. Barriers most frequently mentioned by primary-care providers included a lack of knowledge about genetics and genetic risk assessment, concern for patient anxiety, a lack of access to genetics, and a lack of time. Conclusion:Although studies reported that primary-care providers perceive genetics as being important, barriers to the integration of genetics medicine into routine patient care were identified. The promotion of practical guidelines, point-of-care risk assessment tools, tailored educational tools, and other systems-level strategies will assist primary-care providers in providing genetics services for their patients.

Systematic review of available evidence suggests that early solid feeding may increase the risk of eczema. However, there are little data supporting an association between early solid feeding and other allergic conditions. Since many studies had problematic methods, additional controlled trials are needed to help guide physicians as they advise parents about the allergic risks of early introduction of solids.

Continued technological advances have made the prospect of routine whole-genome sequencing (WGS) imminent. To date, much of the discussion about WGS has focused on its application and use in clinical medicine. Relatively little attention has been paid to the potential integration of WGS into newborn screening programs. Given the structure and scope of these programs, it is possible that the early applications of WGS will occur in state-run newborn screening programs. Assessment of the pressing ethical issues currently facing the newborn screening community will provide insight into the challenges that lie ahead in the genomics era.

State newborn screening programs have expanded dramatically in the past decade. Because the benefit of such testing may be unclear in some cases and because the number of infants who may receive false-positive results and may be labeled falsely as having disease is potentially sizeable, a more cautious approach is needed.

Background: State newborn screening (NBS) programs are considering the storage and use of NBS blood samples for research. However, no systematic assessment of parents’ attitudes exists. Methods: We conducted an Internet-based survey of a nationally representative parent sample. We examined parents’ willingness (1) to permit use of their children’s NBS samples for research with/without their permission and (2) to allow NBS sample storage. Using bivariate and multinomial logistic regression, we examined the association of parent and child characteristics with parents’ willingness to permit NBS sample storage and use for research, respectively. Results: The response rate was 49.5%. If permission is obtained, 76.2% of parents were ‘very or somewhat willing’ to permit use of the NBS sample for research. If permission is not obtained, only 28.2% of parents were ‘very or somewhat willing’. Of parents surveyed, 78% would permit storage of their children’s NBS sample. Parents who refused NBS sample storage were also less willing to permit use of the NBS sample for research. Conclusions: Three-quarters of parents would permit use of their children’s NBS samples for research – if their permission is obtained. Parents not in favor of storing NBS samples often opposed the use of NBS samples for research.

Purpose The aim of this study was to assess parents' interest in whole-genome sequencing for newborns. Methods We conducted a survey of a nationally representative sample of 1,539 parents about their interest in whole-genome sequencing of newborns. Participants were randomly presented with one of two scenarios that differed in the venue of testing: one offered whole-genome sequencing through a state newborn screening program, whereas the other offered whole-genome sequencing in a pediatrician's office. Results Overall interest in having future newborns undergo wholegenome sequencing was generally high among parents. If wholegenome sequencing were offered through a state's newborn-screening program, 74% of parents were either definitely or somewhat interested in utilizing this technology. If offered in a pediatrician's office, 70% of parents were either definitely or somewhat interested. Parents in both groups most frequently identified test accuracy and the ability to prevent a child from developing a disease as “very important” in making a decision to have a newborn's whole genome sequenced. Conclusion These data may help health departments and children's health-care providers anticipate parents' level of interest in genomic screening for newborns. As whole-genome sequencing is integrated into clinical and public health services, these findings may inform the development of educational strategies and outreach messages for parents.

Objective To compare test performance of hemoglobin A1c (HbA1c) for detecting diabetes/prediabetes for US adolescents vs. adults. Study design Individuals were defined as having diabetes (fasting plasma glucose (FPG) ≥126 mg/dl; 2-hour plasma glucose (2-hr PG) ≥200 mg/dl) or prediabetes (100≤FPG<126 mg/dl; 140≤2-hr PG<200 mg/dl). HbA1c test performance was evaluated using receiver operator characteristic (ROC) analyses. Results Few adolescents had undiagnosed diabetes (n=4). When assessing FPG to detect diabetes, an HbA1c of 6.5% had sensitivities of 75.0% (30.1–95.4) and 53.8% (47.4–60.0) and specificities of 99.9% (99.5–100.0) and 99.5% (99.3–99.6) for adolescents and adults, respectively. Additionally, when assessing FPG to detect diabetes, an HbA1c of 5.7% had sensitivities of 5.0% (2.6–9.2) and 23.1% (21.3–25.0) and specificities of 98.3% (97.2–98.9) and 91.1% (90.3–91.9) for adolescents and adults, respectively. ROC analyses suggested that HbA1c is a poorer predictor of diabetes (AUC 0.88 vs. 0.93), and prediabetes (FPG: AUC 0.61 vs. 0.74) for adolescents compared with adults. Performance was poor regardless of using FPG or 2-hr PG measurements. Conclusions Use of HbA1c for diagnosis of diabetes and prediabetes in adolescents may be premature, until information from more definitive studies is available.