Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

PurposeThe purpose of this study was to model the performance of several known two-tier, predefined mutation panels and three-tier algorithms for cystic fibrosis (CF) screening utilizing the ethnically diverse California population.MethodsThe cystic fibrosis transmembrane conductance regulator (CFTR) mutations identified among the 317 CF cases in California screened between 12 August 2008 and 18 December 2012 were used to compare the expected CF detection rates for several two- and three-tier screening approaches, including the current California approach, which consists of a population-specific 40-mutation panel followed by third-tier sequencing when indicated.ResultsThe data show that the strategy of using third-tier sequencing improves CF detection following an initial elevated immunoreactive trypsinogen and detection of only one mutation on a second-tier panel.

Fruit and Vegetable, Fat, and Sugar-Sweetened Beverage Intake Among Low-Income Mothers Living in Neighborhoods With Supplemental Nutrition Assistance Program-Education.

Objective: To examine among low-income mothers the consumption of fruits and vegetables (FV), high-fat foods, and sugar-sweetened beverages (SSBs) and overall diet quality in relation to levels of reach of Supplemental Nutrition Assistance Program-Education (SNAP-Ed) interventions across 2,907 California census tracts.

Design: Cross-sectional telephone survey conducted from April through October, 2014 using the Automated Self-administered 24-Hour Recall dietary assessment.

Participants: Mothers or primary caregivers (n = 6,355) from randomly selected SNAP households.

Cervical cancer screening in medically underserved California Latina and non-Latina women: effect of age and regularity of Pap testing.

Background: This study focuses on age, race/ethnicity and regular cervical cancer screening of medically underserved Latina and non-Latina women enrolled in California's Cancer Detection Programs: Every Woman Counts (CDP: EWC).

Methods: Data from a cohort of women were evaluated for regularity of screening and ethnicity utilizing multi-category logistic regression models to investigate Pap test and biopsy results.

Results: There was no statistically significant difference among medically underserved Latina or non-Latina women in Pap test result and stage of cervical cancer after controlling for age and screening regularity.

Questioning the Need for Informed Consent: A Case Study of California's Experience with a Pilot Newborn Screening Research Project.

CALIFORNIA PROVIDES MANDATORY newborn screening for disorders that cause irreversible, severe disabilities if not identified and treated early in life. Parental consent is not required. In 2001, the Genetic Disease Branch was mandated to pilot test a new technology that could identify many additional disorders using the same blood specimen already collected.