Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort.

Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have genetic testing (GT (-) group) with those who had genetic testing (GT (+) group), regardless of the outcome. Self-administered surveys collected cross-sectional data between September 2017 and December 2021 from relatives participating in the CASCADE cohort. We used multivariable logistic regression with LASSO variable selection. Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (-) group. Being male (OR: 2.79, 95% CI: 1.10-7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03-19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55-0.92). Reasons for forgoing cascade testing were: lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs. Multilevel interventions designed to increase awareness about clinical implications of HBOC and LS in males, referrals from non-specialists, and support for testing multiple family members could improve the uptake of cascade testing.

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort.

Cascade screening for Tier 1 cancer genetic conditions is a significant public health intervention because it identifies untested relatives of individuals known to carry pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The Swiss CASCADE is a family-based, open-ended cohort, including carriers of HBOC- and LS-associated pathogenic variants and their relatives. This paper describes rates of cascade screening in relatives from HBOC- and LS- harboring families, examines carriers' preferences for communication of testing results, and describes theory-based predictors of intention to invite relatives to a cascade screening program. Information has been provided by 304 index cases and 115 relatives recruited from September 2017 to December 2021. On average, 10 relatives per index case were potentially eligible for cascade screening. Approximately 65% of respondents wanted to invite relatives to the cohort, and approximately 50% indicated a preference for patient-mediated communication of testing results, possibly with the assistance of digital technology. Intention to invite relatives was higher for first- compared to second- and third-degree relatives, but was not different between syndromes or based on relatives' gender. The family environment and carrying pathogenic variants predicts intention to invite relatives. Information helps optimize delivery of tailored genetic services.

A systematic literature review of the relation between iron status/anemia in pregnancy and offspring neurodevelopment.

BACKGROUND: The fetal brain starts developing early and animal studies have suggested that iron plays several roles for the development, but results from epidemiological studies investigating associations between gestational iron and offspring neurodevelopment are inconsistent. OBJECTIVE: To systematically examine results from observational studies and RCTs on gestational iron and offspring neurodevelopment, with focus on the importance of four domains: iron status indicators, exposure timing, neurodevelopmental outcomes, and offspring age. METHODS: PRISMA guidelines were followed. Embase, PsychInfo, Scopus, and The Cochrane library were searched in September 2017 and February 2018. Overall, 3307 articles were identified and 108 retrieved for full-text assessment. Pre-specified eligibility criteria were used to select studies and 27 articles were included;19 observational and 8 RCTs. RESULTS: Iron status in pregnancy was associated with offspring behavior, cognition, and academic achievement. The direction of associations with behavioral outcomes were unclear and the conclusions related to cognition and academic achievement were based on few studies, only. Little evidence was found for associations with motor development. Observed associations were shown to persist beyond infancy into adolescence, and results depended on iron status indicator type but not on the timing of exposure. CONCLUSION: We conclude that there is some evidence that low pregnancy iron, possibly particularly in the 3rd trimester, may be associated with adverse offspring neurodevelopment. As most previous research used Hemoglobin, inferring results to iron deficiency should be done with caution. No conclusions could be reached regarding associations beyond early childhood, and supplementation with iron during pregnancy did not seem to influence offspring neurodevelopment.

Comparison of national cross-sectional breast-feeding surveys by maternal education in Europe (2006-2016).

OBJECTIVE: Breast-feeding is an important determinant of health of mothers and their offspring. The present study aimed to compare breast-feeding rates across Europe disaggregated by maternal education and establish what proportion achieves at least 50 % exclusive breast-feeding (EBF) at 6 months.Design/SettingSecondary analysis of national or sub-national studies' breast-feeding data for EU Member States plus Norway and Iceland, published in 2006-2016. Nineteen EU Member States plus Norway reported rates of EBF and any breast-feeding disaggregated by maternal education, of which only thirteen could be matched to the International Standard Classification of Education.ParticipantsMothers and their infants aged 0-12 months. RESULTS: Data on EBF rates at 6 and 4 months were found in only four and six countries, respectively. At 6 months, EBF rates of 49 % in Slovakia and 44 % in Hungary were closest to WHO's target of at least 50 % EBF. At 4 months, mothers with high education level in Denmark, the Netherlands and Germany had the highest EBF rates (71, 52 and 50 %, respectively). Mothers with low education level were less likely to initiate breast-feeding and cessation occurred early. The inequality gap ranged from 63 % in Irish mothers to no gap or very low levels of inequality in Poland, Sweden and Norway. CONCLUSIONS: More mothers with high, compared with low, education initiate breast-feeding and practise EBF for longer. More European policies should be targeted to protect, support and promote breast-feeding, especially among mothers with only mandatory education.

Association between socioeconomic status of mothers, food security, food safety practices and the double burden of malnutrition in the Lalitpur district, Nepal.

BACKGROUND: The prevalence of childhood overweight and obesity is increasing in low-and middle income countries such as Nepal. At the same time, high prevalence of chronic undernutrition persists leading to a double burden of malnutrition. AIM: To identify associations between the socioeconomic status of mothers, food security, the food safety environment within the household, and prevalence of stunting and overweight of the children. METHODS: Statistical analysis of socioeconomic, food safety-related and anthropometric data from 289 mother-child dyads in an urban area of the Kathmandu Valley, Nepal. RESULTS: According to WHO standards, 26 % of the children, aged 0-59 months, were stunted, 10 % were underweight, and 6.6 % were either overweight or obese. Significantly more boys than girls were underweight (p = 0.004) and stunted (p < 0.001). The higher education level of mothers was associated with a higher height-for-age (HAZ) score in girls, but not with HAZ in boys. Irrespective of sex, children of mothers with highest education level had significantly lower BMI-for-age scores (BAZ) than those of mothers with low education levels. None of the food safety indicators were associated with either HAZ or the BAZ. CONCLUSION: The education level of mothers seems to be relevant to help reduce the double burden of malnutrition at least in some regions of Nepal. This should be taken into consideration when designing programmes to prevent both chronic undernutrition and non-communicable diseases.