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.ConclusionIn a diverse population, the use of a second-tier panel followed by third-tier CFTR gene sequencing provides a better detection rate for CF, compared with the use of a second-tier approach alone, and is an effective way to minimize the referrals of CF carriers for sweat testing. Restricting screening to a second-tier testing to predefined mutation panels, even broad ones, results in some missed CF cases and demonstrates the limited utility of this approach in states that have diverse multiethnic populations.

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. The sample was 42.6% Latina, 25.5% white, and 17.6% African American. The response rate was 60.5%. MAIN OUTCOME MEASURES: Cups of FV; calories from high-fat foods; and cups of SSBs, overall and from items purchased from fast-food restaurants. Overall diet quality was assessed by the Healthy Eating Index-2010. ANALYSIS: Linear regression controlling for race/ethnicity and education, with significance at P ≤ .05. RESULTS: Mothers from high SNAP-Ed reach census tracts ate more cups of FV, consumed fewer calories from high-fat foods, and drank fewer cups of SSBs. Healthy Eating Index-2010 scores did not vary by levels of SNAP-Ed reach. CONCLUSIONS AND IMPLICATIONS: Supplemental Nutrition Assistance Program-Education interventions are related to increased intake of FV and decreased consumption of high-fat foods and SSBs, but not overall diet quality. Future studies should include assessment of physical activity to investigate caloric balance in association with levels of SNAP-Ed interventions.

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. Rarely/never Pap-tested women were more likely to have 'SIL/ASC' (odds ratio=1.19; 95% confidence interval=1.08, 1.31) compared to women who were screened regularly. Medically underserved 25-39-year-old women were also more likely to be identified with 'SIL/ASC' (odds ratio=1.64; 95% confidence interval=1.50, 1.79) than women 50 and over. Younger were more likely to have low-grade 'HPV/Condylomata, Atypia/CINI/LSIL' (odds ratio=2.48; 95% confidence interval=1.66, 3.72) and high-grade 'CIN II/III/HSIL/CI/Other Cancers' (odds ratio=1.53; 95% confidence interval=1.08, 2.16) than women age 40 and above, similar to rarely/never Pap-tested women. CONCLUSIONS: Women were more likely to be identified with high-grade precancerous cervical lesions and cancer process when they did not have regular screening, Ethnic differences in screening outcomes seem to be minimized by participation in a program that provides consistent screening resources to the medically underserved women who enroll. These findings support prevention strategies that expand screening to all medically underserved younger women or that provide HPV vaccination at an early age.

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. Study participation required informed consent, which was obtained for 47% of births during the study timeframe. The inability of hospitals to carry out the consent procedure for all newborns resulted in denial of testing and missed cases. If informed consent were waived, all newborns could have been tested. Several empirical questions are posed and each is examined from the perspective of society, the parents and the newborn. It is concluded that the legitimate needs of society and the interests of newborns should not be sacrificed to respond to the autonomy interests of the few parents who did not wish their infant to participate in the study, and that in the future, parental consent should be waived for projects evaluating new screening technologies.