Primary Care Provider Awareness and Attitudes Regarding Updated BRCA1/2 Screening Recommendations and Genetic Testing

Detection of BRCA1/2 gene mutations opens the door for breast cancer prevention; however, many high-risk individuals are not screened until after their first cancer diagnosis. The United States Preventive Services Task Force (USPSTF) updated its BRCA1/2 screening recommendations in 2019. This study explores provider awareness of this update and attitudes towards BRCA1/2 genetic testing. A survey was sent to Obstetrics/ Gynecology (Ob/Gyn), Internal Medicine (IM), and Family Medicine (FM) providers at Thomas Jefferson University Hospitals (TJUH). 66% of responders felt familiar with BRCA1/2 screening guidelines, and 38% were aware of the 2019 USPSTF update. Ob/Gyn providers were more familiar with BRCA1/2 screening recommendations compared to IM and FM providers (p= 0.003). PCP concerns centered around the potential for negative psychological and financial impact, unnecessary testing, and test result uncertainty. Results highlight the need to increase provider awareness of BRCA1/2 screening measures and guidelines while addressing concerns regarding the impact of genetic testing on patients

Mothers' views on feeding infants around the time of weaning

OBJECTIVE: To describe women's views about aspects of infants' diets around the time of weaning, making comparisons with national guidelines. DESIGN: A survey of women with a 9-month-old child. SETTING: Adelaide, South Australia. SUBJECTS: Five hundred and five women who joined a longitudinal study during pregnancy. RESULTS: Sources of information varied, with written material most commonly used (37%). Cows' milk was considered suitable as the main drink for weaned infants by 14% of women. There were divergent views about the suitability of eggs, with many women concerned about allergy. The majority of women (84%) viewed fruit juice as suitable although many qualified their response, often by stating that fruit juice should be diluted. Almost all women considered the amount of sugar mattered, primarily because of tooth decay, and that salt mattered although the reason was often uncertain. It was widely believed (77%) that additives in food could cause health problems, in particular hyperactivity and allergies, and half of the women reported avoiding specific foods because of concerns about allergies. Many women thought that giving their child food that was high in fat would encourage a liking for ‘junk’ food or lead to fatness in adulthood. CONCLUSIONS: There is considerable diversity in the views women express about aspects of infant feeding that have been the subject of guidelines. Further health promotion efforts are needed to achieve greater consistency with recommendations and to address other concerns women have. This will entail greater engagement with parents and shared development of responses.Ruth B Walker, Jennifer A Conn, Michael J Davies and Vivienne M Moor

Opportunities to integrate new approaches in genetic toxicology: An ILSI-HESI workshop report

Genetic toxicity tests currently used to identify and characterize potential human mutagens and carcinogens rely on measurements of primary DNA damage, gene mutation, and chromosome damage in vitro and in rodents. The International Life Sciences Institute Health and Environmental Sciences Institute (ILSI-HESI) Committee on the Relevance and Follow-up of Positive Results in In Vitro Genetic Toxicity Testing held an April 2012 Workshop in Washington, DC, to consider the impact of new understanding of biology and new technologies on the identification and characterization of genotoxic substances, and to identify new approaches to inform more accurate human risk assessment for genetic and carcinogenic effects. Workshop organizers and speakers were from industry, academe, and government. The Workshop focused on biological effects and technologies that would potentially yield the most useful information for evaluating human risk of genetic damage. Also addressed was the impact that improved understanding of biology and availability of new techniques might have on genetic toxicology practices. Workshop topics included (1) alternative experimental models to improve genetic toxicity testing, (2) Biomarkers of epigenetic changes and their applicability to genetic toxicology, and (3) new technologies and approaches. The ability of these new tests and technologies to be developed into tests to identify and characterize genotoxic agents; to serve as a bridge between in vitro and in vivo rodent, or preferably human, data; or to be used to provide dose response information for quantitative risk assessment was also addressed. A summary of the workshop and links to the scientific presentations are provided.International Life Sciences Institute/Health and Environmental Sciences Institute Committe

Electrospinning of ultrafine metal oxide/carbon and metal carbide/carbon nanocomposite fibers

Electrospinning has emerged as a facile technology for the synthesis of ultrafine fibers and even nanofibers of various materials. While carbon nanofibers have been extensively investigated, there have also been studies reported on metal oxide and metal carbide fibers. Yet, comparative studies, especially following the same general synthesis approach, are lacking. In our comprehensive study, we use a sol gel process by which a carrier polymer (cellulose acetate or polyvinylpyrrolidone) is mixed with titanium butoxide, zirconium(IV) acetylacetonate, or niobium n-butoxide to yield nanotextured titania/carbon, zirconia/carbon, or niobia/carbon nonwoven textiles. Carbothermal reduction between 1300 °C and 1700 °C effectively transforms the metal oxide/carbon fibers to metal carbide/carbon nanocomposite while preserving the fiber integrity. As a beneficial effect, the fiber diameter decreases compared to the as-spun state and we obtained ultrafine fibers: 294 ± 108 nm for ZrC/C, 122 ± 28 nm for TiC/C, and 65 ± 36 nm for NbC/C. The highly disordered and porous nature of the carbon matrix engulfing the metal carbide nanocrystals enables a high specific surface area of up to 450 m2 g−1 (TiC/C) after carbothermal reduction

Genetic Toxicology: Opportunities to Integrate New Approaches

The genetic toxicity tests currently used to identify and characterize potential human mutagens and carcinogens rely on measurements of primary DNA damage, gene mutation, and chromosome damage in vitro and in rodents. The International Life Sciences Institute/Health and Environmental Sciences Institute (ILSI/HESI) Project Committee on the Relevance and Follow-up of Positive Results in In Vitro Genetic Toxicity Testing held a Workshop to consider the impact that new understanding of biology and new technologies might have on the identification and characterization of genotoxic substances, and to identify new approaches to inform more accurate human risk assessment for genetic and carcinogenic effects. Workshop organizers and invited speakers were from industry, academe, and government organizations. The biological effects and technologies that were selected as topics were those that would potentially yield the most useful information relevant to human hazard and risk assessment for genetic damage. Also addressed was the impact that the improved understanding of biology and the availability the new techniques might have on genetic toxicology practices. The primary topics addressed were Alternative Experimental Models to Improve Genetic Toxicity Testing; Biomarkers of Epigenetic Changes and their Applicability to Genetic Toxicology, and; New Technologies and Approaches. The ability of these new tests/technologies to be developed into tests to identify and characterize genotoxic agents, serve as a bridge between in vitro and in vivo rodent, or preferably human, data, or be used to provide dose response information for quantitative risk assessment, was also addressed

Native American Ancestry and Air Pollution Interact to Impact Bronchodilator Response in Puerto Rican Children with Asthma.

ObjectiveAsthma is the most common chronic disease in children. Short-acting bronchodilator medications are the most commonly prescribed asthma treatment worldwide, regardless of disease severity. Puerto Rican children display the highest asthma morbidity and mortality of any US population. Alarmingly, Puerto Rican children with asthma display poor bronchodilator drug response (BDR). Reduced BDR may explain, in part, the increased asthma morbidity and mortality observed in Puerto Rican children with asthma. Gene-environment interactions may explain a portion of the heritability of BDR. We aimed to identify gene-environment interactions associated with BDR in Puerto Rican children with asthma.SettingGenetic, environmental, and psycho-social data from the Genes-environments and Admixture in Latino Americans (GALA II) case-control study.ParticipantsOur discovery dataset consisted of 658 Puerto Rican children with asthma; our replication dataset consisted of 514 Mexican American children with asthma.Main outcome measuresWe assessed the association of pairwise interaction models with BDR using ViSEN (Visualization of Statistical Epistasis Networks).ResultsWe identified a non-linear interaction between Native American genetic ancestry and air pollution significantly associated with BDR in Puerto Rican children with asthma. This interaction was robust to adjustment for age and sex but was not significantly associated with BDR in our replication population.ConclusionsDecreased Native American ancestry coupled with increased air pollution exposure was associated with increased BDR in Puerto Rican children with asthma. Our study acknowledges BDR's phenotypic complexity, and emphasizes the importance of integrating social, environmental, and biological data to further our understanding of complex disease

Racial/Ethnic-Specific Differences in the Effects of Inhaled Corticosteroid Use on Bronchodilator Response in Patients With Asthma.

American Thoracic Society guidelines recommend inhaled corticosteroid (ICS) therapy, plus a short-acting bronchodilator, in patients with persistent asthma. However, few prior studies have examined the efficacy of this combination in children of all racial/ethnic groups. We evaluated the association between ICS use and bronchodilator response (BDR) in three pediatric populations with persistent asthma (656 African American, 916 Puerto Rican, and 398 Mexican American children). The association was assessed using multivariable quantile regression. After adjusting for baseline forced expiratory volume in one second and use of controller medications, ICS use was significantly associated with increased BDR only among Mexican Americans (1.56%, P = 0.028) but not African Americans (0.49%, P = 0.426) or Puerto Ricans (0.16%, P = 0.813). Our results demonstrate that ICS augmentation is disproportionate across racial/ethnic groups, where improved BDR is observed in Mexican Americans only. This study highlights the complexities of treating asthma in children, and reinforces the importance of investigating the influence of race/ethnicity on pharmacological response

Racial/Ethnic-Specific Differences in the Effects of Inhaled Corticosteroid Use on Bronchodilator Response in Patients With Asthma.

American Thoracic Society guidelines recommend inhaled corticosteroid (ICS) therapy, plus a short-acting bronchodilator, in patients with persistent asthma. However, few prior studies have examined the efficacy of this combination in children of all racial/ethnic groups. We evaluated the association between ICS use and bronchodilator response (BDR) in three pediatric populations with persistent asthma (656 African American, 916 Puerto Rican, and 398 Mexican American children). The association was assessed using multivariable quantile regression. After adjusting for baseline forced expiratory volume in one second and use of controller medications, ICS use was significantly associated with increased BDR only among Mexican Americans (1.56%, P = 0.028) but not African Americans (0.49%, P = 0.426) or Puerto Ricans (0.16%, P = 0.813). Our results demonstrate that ICS augmentation is disproportionate across racial/ethnic groups, where improved BDR is observed in Mexican Americans only. This study highlights the complexities of treating asthma in children, and reinforces the importance of investigating the influence of race/ethnicity on pharmacological response