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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(More)
BACKGROUND Although single nucleotide polymorphism chromosomal microarrays identify areas of small genetic deletions or duplications, they can also reveal regions of homozygosity indicative of consanguinity. As more nongeneticists order single nucleotide polymorphism microarrays, they must prepare for the potential ethical, legal, and social issues that(More)
Whole-genome sequencing (WGS) has advanced to a point where it is beginning to be integrated into pediatric practice. With little consensus on how to maximize the benefits of WGS for children, there is a growing need for focused efforts that connect researchers, clinicians, and families to chart a path forward. To illustrate relevant concerns, two(More)
OBJECTIVE To evaluate the effect of the genetic risk information source (family history vs genetic test results) on parents' concern about their own and their children's genetic disease risk. DESIGN Randomized trial using a Web-enabled survey. SETTING Internet survey. PARTICIPANTS National sample of 1,342 parents. Intervention Parents first received a(More)
BACKGROUND The advent of tandem mass spectrometry has made it possible to test newborns for multiple conditions efficiently. It is not known how state newborn screening programs have changed screening practices in response to this technology and how it affects the number of false-positive test results. METHODS We obtained data from the National Newborn(More)
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(More)
Newborn screening has provided a model of a successful public health screening program for the past 40 years. However, the history of newborn screening is not without controversy. Many of these controversies have been rekindled with the introduction of tandem mass spectrometry, a technology that has greatly increased our ability to detect potential disease(More)
While newborn screening (NBS) programs have historically relied on presumptive benefit in deciding when to implement new tests, experience has demonstrated that this approach can lead to screening tests that lack efficacy or, worse yet, cause harm. Population-based NBS research provides an opportunity to evaluate safety and effectiveness of potential tests(More)
OBJECTIVE To compare test performance of hemoglobin A1c (HbA1c) for detecting diabetes mellitus/pre-diabetes for adolescents versus adults in the United States. STUDY DESIGN Individuals were defined as having diabetes mellitus (fasting plasma glucose [FPG] ≥ 126 mg/dL; 2-hour plasma glucose (2-hr PG) ≥ 200 mg/dL) or pre-diabetes (100 ≤ FPG < 126 mg/dL;(More)
D IFFERENTIATING BACTERIAL SEPSIS FROM other conditions common in infants in the neonatal intensive care unit poses a number of challenges. First, clinical signs such as apnea, feeding intolerance, and need for increased respiratory support are nonspecific but still of concern for bacterial sepsis. These signs often prompt evaluation for sepsis that(More)