Parents' Perceptions of the Utility of Genetic Testing in the NICU.

Background And Objectives: While several studies have evaluated neonatal intensive care unit (NICU) parents' perspective on the utility of genetic testing in a research context and concluded positive appraisal, some data point to more varied perceptions.

Methods: We conducted semi-structured interviews to elicit NICU parents' beliefs about the ways in which clinical (non-research) genetic testing could be both helpful and harmful.

Results: We interviewed 43 parents of 36 neonates who had been recommended, and either accepted or declined, clinical genetic testing.

How Neonatologists Use Genetic Information.

Objective: To delineate specific ways in which neonatologists integrate genetic information into their clinical decision making.

Study Design: We employed chart-stimulated recall, in which neonatologists described how they used genetic tests in specific patient cases, as well as semi-structured questioning about genetic information.

Results: Based on 28 interviews with neonatologists, we document 6 uses of genetic information: making a diagnosis, categorizing/stereotyping as "genetic," informing prognosis, influencing treatment, informing goals of care, and supporting accountability.

Frequency and reasons that parents decline genetic testing for critically ill neonates.

Purpose: Current literature reports strong support among parents for genetic testing for ill neonates; yet, some parents decline this testing for unknown reasons. We aimed to document the proportion of parents who decline, describe their clinical and demographic characteristics, and categorize their rationales.

Methods: We reviewed medical records to collect and compare clinical and demographic information for patients whose parents consented to and declined recommended genetic testing.

Racial discrimination among women seeking breast cancer care.

Discrimination can contribute to worse health outcomes, but its prevalence in breast cancer is not well studied. We aimed to understand how women with stage I-III breast cancer faced discrimination in health care and everyday settings through the Everyday Discrimination Scale, cross-sectional survey. 296 women, 178 (60%) Non-Hispanic White (NHW), 76 (26%) Non-Hispanic Black (NHB), and 42 (14%) Hispanic participated.

The breast cancer genetic testing experience: probing the potential utility of an online decision aid in risk perception and decision making.

Background: Despite the association of pathogenic variants (PVs) in cancer predisposition genes with significantly increased risk of breast cancer (BC), uptake of genetic testing (GT) remains low, especially among ethnic minorities. Our prior study identified that a patient decision aid, RealRisks, improved patient-reported outcomes (including worry and perceived risk) relative to standard educational materials. This study examined patients' GT experience and its influence on subsequent actions.

The association of HIV status with triple-negative breast cancer in patients with breast cancer in South Africa: a cross-sectional analysis of case-only data from a prospective cohort study.

Background: Breast cancer is the most common malignancy diagnosed among women in South Africa, with the aggressive triple-negative subtype comprising approximately 15% of breast cancers in this population. South Africa has the largest population of people with HIV in the world. This study aims to evaluate the association between HIV status and the proportion of patients with breast cancer with the triple-negative subtype.

See Me, Hear Me: Racial Discrimination Among Women Seeking Breast Cancer Care.

Discrimination can contribute to worse health outcomes, but its prevalence in breast cancer is not well studied. We aimed to understand how women with stage I-III breast cancer faced discrimination in health care and everyday settings through a cross-sectional survey. 296 women, 178 (60%) Non-Hispanic White (NHW), 76 (26%) Non-Hispanic Black (NHB), and 42 (14%) Hispanic participated.

Pharmacist-Led Video Consultation to Identify and Mitigate Drug Interactions Among Patients Initiating Oral Anticancer Drugs.

Purpose: The past decade has seen an increase in oral anticancer drug (OACD) approvals. Polypharmacy and drug-drug interactions (DDIs) likely contribute to OACD toxicity. We assessed a one-time pharmacist-led video consultation to identify DDIs.

Developing decision support tools for high-risk women and healthcare providers to increase chemoprevention informed choice and uptake: A retrospective translational science case study.

Retrospective case studies are one approach to help identify processes underlying the translation of successful health interventions. This case study investigates the development of and (), decision support tools for breast cancer risk assessment, and risk-stratified prevention. Following a recently developed protocol for retrospective translational science case studies, we examined the career trajectory of Dr Katherine Crew as she expanded from basic science to interdisciplinary, patient-oriented research in oncology and began collaboration with Dr Rita Kukafka, a public health informatician focused on communicating risk.

Use of web-based decision support to improve informed choice for chemoprevention: a qualitative analysis of pre-implementation interviews (SWOG S1904).

Background: Women with high-risk breast lesions, such as atypical hyperplasia (AH) or lobular carcinoma in situ (LCIS), have a 4- to tenfold increased risk of breast cancer compared to women with non-proliferative breast disease. Despite high-quality data supporting chemoprevention, uptake remains low. Interventions are needed to break down barriers.

Drug and biomarker tissue levels in a randomized presurgical trial on exemestane alternative schedules.

The drug's activity at the target tissue could help to define the minimal effective dose to promote cancer preventive therapy. Here we present exemestane and sex hormone concentrations within breast tissue from a presurgical study of alternative exemestane schedules. Postmenopausal women candidates for breast surgery for estrogen receptor-positive breast cancer were randomly assigned to exemestane 25 mg once daily (QD), 25 mg 3 times/week (TIW), or 25 mg per week (QW) for 4-6 weeks before surgery.

Use of a Smartphone Application to Promote Adherence to Oral Medications in Patients With Breast Cancer.

Purpose: Medication nonadherence is common among patients with breast cancer (BC) and increases BC mortality and complications from comorbidities. There is growing interest in mobile health interventions such as smartphone applications (apps) to promote adherence.

Methods: Use of Medisafe, a medication reminder and tracking app, was tested over 12 weeks among patients on BC treatment and at least one oral medication.

Effects of vitamin D supplementation on a deep learning-based mammographic evaluation in SWOG S0812.

Deep learning-based mammographic evaluations could noninvasively assess response to breast cancer chemoprevention. We evaluated change in a convolutional neural network-based breast cancer risk model applied to mammograms among women enrolled in SWOG S0812, which randomly assigned 208 premenopausal high-risk women to receive oral vitamin D3 20 000 IU weekly or placebo for 12 months. We applied the convolutional neural network model to mammograms collected at baseline (n = 109), 12 months (n = 97), and 24 months (n = 67) and compared changes in convolutional neural network-based risk score between treatment groups.

Making Informed Choices On Incorporating Chemoprevention into carE (MiCHOICE, SWOG 1904): Design and methods of a cluster randomized controlled trial.

Introduction: Women with atypical hyperplasia (AH) or lobular carcinoma in situ (LCIS) have a significantly increased risk of breast cancer, which can be substantially reduced with antiestrogen therapy for chemoprevention. However, antiestrogen therapy for breast cancer risk reduction remains underutilized. Improving knowledge about breast cancer risk and chemoprevention among high-risk patients and their healthcare providers may enhance informed decision-making about this critical breast cancer risk reduction strategy.

Molecular characterisation of a novel sadwavirus infecting cattleya orchids in Australia.

The complete genome sequence of a novel sadwavirus infecting cattleya orchids in South East Queensland is described. Isometric virions of c. 27 nm diameter were observed in sap extracts viewed under a transmission electron microscope, and the genome sequence of this virus was determined by high-throughput sequencing.

Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study.

Research on polygenic risk scores (PRSs) for common, genetically complex chronic diseases aims to improve health-related predictions, tailor risk-reducing interventions, and improve health outcomes. Yet, the study and use of PRSs in clinical settings raise equity, clinical, and regulatory challenges that can be greater for individuals from historically marginalized racial, ethnic, and other minoritized communities. As part of the National Human Genome Research Institute-funded Electronic Medical Records and Genomics IV Network, we conducted online focus groups with patients/community members, clinicians, and members of institutional review boards to explore their views on key issues, including PRS research, return of PRS results, clinical translation, and barriers and facilitators to health behavioral changes in response to PRS results.

Understanding Social, Cultural, and Religious Factors Influencing Medical Decision-Making on BRCA1/2 Genetic Testing in the Orthodox Jewish Community.

Introduction: Although the prevalence of a pathogenic variant in the BRCA1 and BRCA2 genes is about 1:400 (0.25%) in the general population, the prevalence is as high as 1:40 (2.5%) among the Ashkenazi Jewish population.

Alternative dosing regimen of exemestane in a randomized presurgical trial: the role of obesity in biomarker modulation.

In a 3-arm presurgical trial, four-six weeks exemestane 25 mg three times/week (TIW) was non-inferior to 25 mg/day (QD) in suppressing circulating estradiol in postmenopausal women with ER-positive breast cancer. Since obesity may decrease exemestane efficacy, we analyzed changes in sex steroids, adipokines, Ki-67, and drug levels in relation to obesity. Postmenopausal women with early-stage ER-positive breast cancer were randomized to either exemestane 25 mg QD (n = 57), 25 mg TIW (n = 57), or 25 mg/week (QW, n = 62) for 4-6 weeks before breast surgery.

Randomized adaptive selection trial of cryotherapy, compression therapy, and placebo to prevent taxane-induced peripheral neuropathy in patients with breast cancer.

Background: Chemotherapy-induced peripheral neuropathy (CIPN) is a common and debilitating adverse effect of taxane therapy. Small non-randomized studies in patients with early-stage breast cancer (ESBC) suggest both cryotherapy and compression therapy may prevent CIPN. It is unknown which is more effective.

Time to Cancer Treatment and Chemotherapy Relative Dose Intensity for Patients With Breast Cancer Living With HIV.

Importance: Patients with breast cancer and comorbid HIV experience higher mortality than other patients with breast cancer.

Objective: To compare time to cancer treatment initiation and relative dose intensity (RDI) of neoadjuvant and adjuvant chemotherapy among patients with breast cancer with vs without HIV.

Design, Setting, And Participants: A retrospective, matched cohort study enrolled women who received a diagnosis of breast cancer from January 1, 2000, through December 31, 2018.