Guidelines for Disclosing Genetic Information to Family Members: from Development to Use

[À l'origine dans / Was originally part of : CRDP - Droit, biotechnologie et rapport au milieu

Trends in Folic Acid Awareness and Behavior in the United States: The Gallup Organization for the March of Dimes Foundation Surveys, 1995–2005

Objective: To summarize changes in folic acid awareness, knowledge, and behavior among women of childbearing age in the United States since the U.S. Public Health Service (USPHS) 1992 folic acid recommendation and later fortification. Methods: Random-digit dialed telephone surveys were conducted of approximately 2000 women (per survey year) aged 18–45 years from 1995–2005 in the United States. Results: The percentage of women reporting having heard or read about folic acid steadily increased from 52% in 1995 to 84% in 2005. Of all women surveyed in 2005, 19% knew folic acid prevented birth defects, an increase from 4% in 1995. The proportion of women who reported learning about folic acid from health care providers increased from 13% in 1995 to 26% in 2005. The proportion of all women who reported taking a vitamin supplement containing folic acid increased slightly from 28% in 1995 to 33% in 2005. Among women who were not pregnant at the time of the survey in 2005, 31% reported taking a vitamin containing folic acid daily compared with 25% in 1995. Conclusions: The percentage of women taking folic acid daily has increased modestly since 1995. Despite this increase, the data show that the majority of women of childbearing age still do not take a vitamin containing folic acid daily. Health care providers and maternal child health professionals must continue to promote preconceptional health among all women of childbearing age, and encourage them to take a vitamin containing folic acid daily

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Background BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs). Methods We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database. Results Among BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10−5) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor–positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15–21.80] and progesterone receptor–positive (OR 5.04; 95 % CI 3.17–8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10−12). Conclusions On the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management

Progress along developmental tracks for electronic health records implementation in the United States

The development and implementation of electronic health records (EHR) have occurred slowly in the United States. To date, these approaches have, for the most part, followed four developmental tracks: (a) Enhancement of immunization registries and linkage with other health records to produce Child Health Profiles (CHP), (b) Regional Health Information Organization (RHIO) demonstration projects to link together patient medical records, (c) Insurance company projects linked to ICD-9 codes and patient records for cost-benefit assessments, and (d) Consortia of EHR developers collaborating to model systems requirements and standards for data linkage. Until recently, these separate efforts have been conducted in the very silos that they had intended to eliminate, and there is still considerable debate concerning health professionals access to as well as commitment to using EHR if these systems are provided. This paper will describe these four developmental tracks, patient rights and the legal environment for EHR, international comparisons, and future projections for EHR expansion across health networks in the United States

The History of Preconception Care: Evolving Guidelines and Standards

This article explores the history of the preconception movement in the United States and the current status of professional practice guidelines and standards. Professionals with varying backgrounds (nurses, nurse practitioners, family practice physicians, pediatricians, nurse midwives, obstetricians/gynecologists) are in a position to provide preconception health services; standards and guidelines for numerous professional organizations, therefore, are explored. The professional nursing organization with the most highly developed preconception health standards is the American Academy of Nurse Midwives (ACNM); for physicians, it is the American College of Obstetricians and Gynecologists (ACOG). These guidelines and standards are discussed in detail

[CODE] VallejosGroup/CompRisksVignettes: Final code used in Monterrubio-Gomez et al (2024)

This is the final version of the code used to generate the results shown in Monterrubio-Gomez et al (2024), Biometrical JournalKarlaMonterrubio, Catalina Vallejos, & Nathan Constantine-Cooke. (2024). VallejosGroup/CompRisksVignettes: Final code used in Monterrubio-Gomez et al (2024) (Version biometricaljournal2024). Zenodo. https://doi.org/10.5281/zenodo.1055468

Dataset pertaining to the publication “Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers”

The archive IgGGlycans_GWAMA_2013.tar.gz contains seventy-seven gzipped files corresponding to genome-wide association meta-analysis (GWAMA) of seventy-seven IgG glycans traits.Dataset pertaining to the publication “Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers”. The files are comma separated and contain genome wide association meta-analysis data for the discovery studies. Summary data are given for the meta-analyses of over 2 million directly genotyped or imputed single variant polymorphisms corresponding to the HAPMAP2 release 22 reference panel : allele2, effallele, allele for which effect (beta) is reported, allele1, alternate allele. chromosome and position are position of the SNP on NCBI36/hg18 build. Meta-analysis mean effect size (beta) is the inverse-variance weighted estimate derived from individual discovery study; sebeta is its standard error. p is meta-analysis P-value; npops is the number of populations used for meta-analysis at that locus; n is the total number of samples used in individual level GWASs. Meta-analysis estimates are corrected for inflation of test statistics using genomic control at the individual study level. The archive IgGGlycans_GWAMA_2013.tar.gz contains seventy-seven gzipped files corresponding to genome-wide association meta-analysis (GWAMA) of seventy-seven IgG glycans traits.Huffman, Jennifer; Hayward, Caroline. (2016). Dataset pertaining to the publication “Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers”, [dataset]. University of Edinburgh. Institute of Genetics and Molecular Medicine. http://dx.doi.org/10.7488/ds/1370