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PurposeEngaging primary care providers (PCPs) in BRCA1/2 testing and results disclosure would increase testing access. The BRCA Founder OutReach (BFOR) study is a prospective study of BRCA1/2 founder mutation screening among individuals of Ashkenazi Jewish descent that sought to involve participants' PCPs in results disclosure. We used quantitative and qualitative methods to evaluate PCPs' perspectives, knowledge, and experience disclosing results in BFOR.MethodsAmong PCPs nominated by BFOR participants to disclose BRCA1/2 results, we assessed the proportion agreeing to disclose. To examine PCP's perspectives, knowledge, and willingness to disclose results, we surveyed 501 nominated PCPs. To examine PCPs' experiences disclosing results in BFOR, we surveyed 101 PCPs and conducted 10 semi-structured interviews.ResultsIn the BFOR study overall, PCPs agreed to disclose their patient's results 40.5% of the time. Two hundred thirty-four PCPs (46.7%) responded to the initial survey. Responding PCPs were more likely to agree to disclose patients' results than non-responders (57.3% vs. 28.6%, p

PurposeThis study aimed to evaluate uptake and follow-up using internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs).MethodsAcross 4 cities in the United States, from December 2017 to March 2020, individuals aged ≥25 years with ≥1 Ashkenazi Jewish grandparent were offered enrollment. Participants consented and enrolled online with chatbot and video education, underwent BRCA1/2 AJPV GT, and chose to receive results from their primary care provider (PCP) or study staff. Surveys were conducted at baseline, at 12 weeks, and annually for 5 years.ResultsA total of 5193 participants enrolled and 4109 (79.1%) were tested (median age = 54, female = 77.1%). Upon enrollment, 35.1% of participants selected a PCP to disclose results, and 40.5% of PCPs agreed. Of those tested, 138 (3.4%) were AJPV heterozygotes of whom 21 (15.2%) had no significant family history of cancer, whereas 86 (62.3%) had a known familial pathogenic variant. At 12 weeks, 85.5% of participants with AJPVs planned increased cancer screening; only 3.7% with negative results and a significant family history reported further testing.ConclusionAlthough continued follow-up is needed, internet-enabled outreach can expand access to targeted GT using a medical model. Observed challenges for population genetic screening efforts include recruitment barriers, improving PCP engagement, and increasing uptake of additional testing when indicated.

Aim: Patients with metastatic breast cancer (MBC) may be vulnerable to changes in healthcare management, safety standards and protocols that occurred during the COVID-19 pandemic. Materials & methods: The REthink Access to Care & Treatment (REACT) survey assessed USA-based patient perspectives on COVID-19-related impacts to their MBC treatment experience between 27 April 2021 and 17 August 2021. Results: Participants (n = 341; 98.5% females, mean age 50.8 years) reported that overall oncology treatment quality was maintained during the pandemic. Delayed/canceled diagnostic imaging was reported by 44.9% of participants while telemedicine uptake was high among participants (80%). Conclusion: Overall, MBC care was minimally affected by the pandemic, possibly due to the expanded use of telemedicine, informing MBC management for future public health emergencies. Plain Language Summary The COVID-19 pandemic has forced healthcare providers to change the way that healthcare is delivered. These changes could particularly affect people with metastatic breast cancer (MBC), an advanced stage of cancer that has spread to other parts of the body. The authors of this study used a web-based survey to ask 341 volunteers with MBC how the pandemic has affected their cancer treatment. The authors found that people with MBC thought that the quality of their care stayed the same during the pandemic. Most people (80%) surveyed were able to use telemedicine, the remote delivery of care by phone or computer, to replace in-person visits to their doctor. However, almost half of people surveyed reported delays or cancellation of their diagnostic imaging appointments. Overall, this study shows that the COVID-19 pandemic did not affect peoples' opinions of their MBC care. Increased use of telemedicine may have contributed to the lack of disruption in care. These findings will help guide MBC care during future public health emergencies. Tweetable abstract A survey of patient perspectives on their care for metastatic breast cancer during the COVID-19 pandemic has shown consistent quality of care. Care delivery adaptations such as telemedicine may be key to maintaining cancer care quality during future public health emergencies. Substantial changes in healthcare management, safety standards and protocols occurred during the COVID-19 pandemic. Patients with metastatic breast cancer (MBC) are particularly at risk of pandemic-related negative consequences due to the need for clinical visits, multimodal therapies, potential immunosuppression and compromised support services. This cross-sectional study used a two-part REthink Access to Care & Treatment (REACT) survey to assess the perspective of patients with MBC on the effects of COVID-19 with regards to their MBC treatment experience. Data from 341 validated participants (98.5% females; mean age 50.8 years) revealed that patient-reported overall quality of oncology treatment remained about the same during the pandemic. Telemedicine uptake was high among participants (80%); replacement of in-person visits with telemedicine was the most reported change to regular clinical checkups and mental health visits due to the pandemic. However, 44.9% of participants reported that diagnostic imaging appointments were either delayed or canceled. During the pandemic, 48.1% of participants reported disease progression. Overall, participants perceived that the management and treatment of their MBC were minimally disrupted by the pandemic, likely due in part to the utilization of telemedicine. While these findings can inform MBC management decisions during future public health crises, future studies should solicit perceptions of care from more diverse patient populations. [ABSTRACT FROM AUTHOR]

Global warming is a major challenge to the sustainable and humane production of food because of the increased risk of livestock to heat stress. Here, the example of the prolactin receptor (PRLR) gene is used to demonstrate how gene editing can increase the resistance of cattle to heat stress by the introduction of mutations conferring thermotolerance. Several cattle populations in South and Central America possess natural mutations in PRLR that result in affected animals having short hair and being thermotolerant. CRISPR/Cas9 technology was used to introduce variants of PRLR in two thermosensitive breeds of cattle – Angus and Jersey. Gene‐edited animals exhibited superior ability to regulate vaginal temperature (heifers) and rectal temperature (bulls) compared to animals that were not gene‐edited. Moreover, gene‐edited animals exhibited superior growth characteristics and had larger scrotal circumference. There was no evidence for deleterious effects of the mutation on carcass characteristics or male reproductive function. These results indicate the potential for reducing heat stress in relevant environments to enhance cattle productivity. [ABSTRACT FROM AUTHOR]

Analyst sensemaking research typically focuses on individual or small groups conducting intelligence tasks. This has helped understand information retrieval tasks and how people communicate information. As a part of the grand challenge of the Summer Conference on Applied Data Science (SCADS) to build a system that can generate tailored daily reports (TLDR) for intelligence analysts, we conducted a qualitative interview study with analysts to increase understanding of information passing in the intelligence community. While our results are preliminary, we expect that this work will contribute to a better understanding of the information ecosystem of the intelligence community, how institutional dynamics affect information passing, and what implications this has for a TLDR system. This work describes our involvement in and work completed during SCADS. Although preliminary, we identify that information passing is both a formal and informal process and often follows professional networks due especially to the small population and specialization of work. We call attention to the need for future analysis of information ecosystems to better support tailored information retrieval features. [ABSTRACT FROM AUTHOR]

Purpose: Engaging primary care providers (PCPs) in BRCA1/2 testing and results disclosure would increase testing access. The BRCA Founder OutReach (BFOR) study is a prospective study of BRCA1/2 founder mutation screening among individuals of Ashkenazi Jewish descent that sought to involve participants' PCPs in results disclosure. We used quantitative and qualitative methods to evaluate PCPs' perspectives, knowledge, and experience disclosing results in BFOR. Methods: Among PCPs nominated by BFOR participants to disclose BRCA1/2 results, we assessed the proportion agreeing to disclose. To examine PCP's perspectives, knowledge, and willingness to disclose results, we surveyed 501 nominated PCPs. To examine PCPs' experiences disclosing results in BFOR, we surveyed 101 PCPs and conducted 10 semi-structured interviews. Results: In the BFOR study overall, PCPs agreed to disclose their patient's results 40.5% of the time. Two hundred thirty-four PCPs (46.7%) responded to the initial survey. Responding PCPs were more likely to agree to disclose patients' results than non-responders (57.3% vs. 28.6%, p<0.001). Among all respondents, most felt very (19.7%) or somewhat (39.1%) qualified to share results. Among PCPs declining to disclose, insufficient knowledge was the most common reason. In multivariable logistic regression, feeling qualified was the only variable significantly associated with agreeing to disclose results (OR 6.53, 95% CI 3.31, 12.88). In post-disclosure surveys (response rate=55%), PCPs reported largely positive experiences. Interview findings suggested that although PCPs valued the study-provided educational materials, they desired better integration of results and decision support into workflows. Conclusion: Barriers exist to incorporating BRCA1/2 testing into primary care. Most PCPs declined to disclose their patients' BFOR results, although survey respondents were motivated and had positive disclosure experiences. PCP training and integrated decision support could be beneficial. Trial Registration: ClinicalTrials.gov (NCT03351803), November 24, 2017 [ABSTRACT FROM AUTHOR]

Abstract Background While initially sensitive to heat shock, the bovine embryo gains thermal resistance as it progresses through development so that physiological heat shock has little effect on development to the blastocyst stage by Day 5 after insemination. Here, experiments using 3’ tag digital gene expression (3’DGE) and real-time PCR were conducted to determine changes in the transcriptome of morula-stage bovine embryos in response to heat shock (40 degrees C for 8 h) that could be associated with thermotolerance. Results Using 3’DGE, expression of 173 genes were modified by heat shock, with 94 genes upregulated by heat shock and 79 genes downregulated by heat shock. A total of 38 differentially-regulated genes were associated with the ubiquitin protein, UBC. Heat shock increased expression of one heat shock protein gene, HSPB11, and one heat shock protein binding protein, HSPBP1, tended to increase expression of HSPA1A and HSPB1, but did not affect expression of 64 other genes encoding heat shock proteins, heat shock transcription factors or proteins interacting with heat shock proteins. Moreover, heat shock increased expression of five genes associated with oxidative stress (AKR7A2, CBR1, GGH, GSTA4, and MAP2K5), decreased expression of HIF3A, but did not affect expression of 42 other genes related to free radical metabolism. Heat shock also had little effect on genes involved in embryonic development. Effects of heat shock for 2, 4 and 8 h on selected heat shock protein and antioxidant genes were also evaluated by real-time PCR. Heat shock increased steady-state amounts of mRNA for HSPA1A (PHSP90AA1 (PSOD1 or CAT. Conclusions Changes in the transcriptome of the heat-shocked bovine morula indicate that the embryo is largely resistant to effects of heat shock. As a result, transcription of genes involved in thermal protection is muted and there is little disruption of gene networks involved in embryonic development. It is likely that the increased resistance of morula-stage embryos to heat shock as compared to embryos at earlier stages of development is due in part to developmental acquisition of mechanisms to prevent accumulation of denatured proteins and free radical damage.