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ABSTRACT Objective Design Setting Sample Methods Main Outcome Measures Results Conclusion Prenatal exome sequencing (pES) for diagnosing fetal structural anomalies commenced in the English National Health Service (NHS) in 2020. We evaluated cost‐effectiveness to the healthcare system, and costs to families, of pES in addition to standard testing, compared to standard testing alone.A cost‐effectiveness analysis combining costs, outcomes, parent and professional interview and professional survey data.The English NHS Genomic Medicine Service.413 families with fetal anomalies with a suspected genetic cause referred for pES from 01 October 2021 to 30 June 2022.We costed the incremental resource required to deliver the pES clinical pathway. We calculated the diagnostic yield (proportion of cases with pathogenic variants). We divided the total incremental cost by the number of cases with a diagnosis to calculate cost‐effectiveness. We estimated the annual NHS budget requirement based on case numbers. We determined parental costs from interviews.Incremental costs of pES to the NHS and families, incremental cost per additional diagnosis and NHS budget impact.Of 413 referred cases, 241 were tested, at a cost of £2331 (95% credibility interval £1894–£2856) per referred case or £3592 (£2959–£4250) per case that proceeded with testing. The incremental cost per diagnosis (yield 35.3%) was £11 326 (£8582–£15 361). Based on referrals data 01 October 2022 to 30 September 2023, pES costs the NHS £1.8 m annually. Family costs could not be separated from other pregnancy‐related appointments but were not considered burdensome; most appointments were concurrent or remote.pES costs the English NHS £11 326 for each additional diagnosis. Incremental costs to families are negligible. [ABSTRACT FROM AUTHOR]

Introduction: Prenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite final diagnosis), referral rate, and sources of referral, and explore variation in outcomes of pES by individual or service level factors between 01 October 2021 and 30 June 2022. Methods: pES testing results from the National Health Service laboratories performing testing were linked to National Congenital Anomaly and Rare Disease Registration Service data and the Maternity Services Data Set and descriptive statistics computed. Results: There were 475,089 women who gave birth in England during the study period. The referral rate for pES was 8.6 (95% CI 7.8, 9.4) per 10,000 maternities. About 59% of those referred proceeded with pES testing and 35% of women who proceeded received a definite final diagnosis with a median turnaround time of 15 days. Of those who had pES testing, 64.6% had a live birth, 25.3% underwent termination of pregnancy (median gestational age at termination: 26 weeks), and 9.3% had a stillbirth. Among the 85 women who had a definite final diagnosis, 40% had a termination of pregnancy, 18% had a stillbirth, and 42% had a live birth. The corresponding figures among women without a definite final diagnosis were 18%, 5%, and 78%, respectively. Among women who had a termination of pregnancy, the median gestational age at final report was 24.9 weeks and 26.2 weeks at termination. Variation observed in some of the characteristics and outcomes between regional services were limited by small sample size. Conclusion: This study showed that of those referred, pES testing provided a diagnosis for one in three pregnancies with a fetal anomaly across England during the study period when other tests had been non-informative. Women who opted for a termination of pregnancy underwent the procedure at relatively late gestations. Earlier referral for pES, streamlining pathways, and faster turnaround times may help results to be available at an earlier gestation to allow families more time to make decisions around continuing or terminating their pregnancy. The variation in service outcomes between regional services needs to be investigated further to understand the reasons for these differences. [ABSTRACT FROM AUTHOR]

Genome sequencing (GS) has the potential to reduce the "diagnostic odyssey" that many parents of children with rare undiagnosed conditions experience. While much research has considered the impact of receiving a diagnostic result, research has rarely focused solely on the impact of receiving a "no primary finding" (NPF) result. This study aimed to investigate the experience of parents of children with rare and undiagnosed conditions following an NPF result from GS. Nine parents whose child had an NPF result from GS were recruited through the social media platform of the charity SWAN (Syndromes Without A Name) UK. Semi‐structured telephone interviews were conducted, transcribed verbatim, and analyzed using grounded theory. Analysis led to the emergence of two main themes. The first theme "Striving to Solve the Unsolved Puzzle" concerned the experience of striving to end the "diagnostic odyssey." The second theme "Navigating Hope, Lost then Found" plots the trajectory of hope raised by the promise of a new technology, dashed by the NPF, and the eventual return of small and distant hope for the future. Taken together, these themes allowed for a proposed theory: "The Disequilibrium of Hope," which highlights the dynamic and modifiable experience of hope participants experience in their GS journey. These results suggest GS can be an emotional rollercoaster for parents. While hope plays an important role in coping with the day‐to‐day life of living with a rare disease, careful management of expectations from GS is important during pre‐test counseling, and continued follow‐up and support are needed beyond result disclosure. An understanding of the disappointment and distress caused by an NPF result is valuable for healthcare professionals in this field to ensure counseling can be tailored. Further research should consider how to support parents after an NPF result. [ABSTRACT FROM AUTHOR]

Increasing the climate literacy of local leaders in the Tampa Bay region is critical if the area is to successfully face the rising challenges of the climate crisis. One of the most vulnerable areas in the world, the Tampa Bay region is often considered ill-prepared to cope with rising sea levels, threats of extreme rainfall, flooding and intense hurricanes, and the potentially deadly impact of recording breaking heat. This project produced a documentary film to increase awareness and understanding of the area's coastal climate related risks and solutions, and boost confidence and motivation to act among regional community members. We assess the impact of the film, which uses a storytelling format and strong visual messaging, on over 250 local community members' understanding of risk, knowledge of appropriate resilience strategies, and empowerment to act. Qualitative analysis of pre-film and post-film surveys reveals the strong impact of the storytelling portions of the film on fact retention, feelings of urgency and the willingness to work with others to promote local resilience. [ABSTRACT FROM AUTHOR]

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. In this study, we utilized a survey‐based discrete choice experiment to elicit the preferences of pregnant people in Northern California for hypothetical prenatal genomic tests. Pregnant individuals were invited to complete the survey through advertisements on social media. Five test attributes were studied: likelihood of getting a result, time taken to receive results, who explains results, reporting of uncertain results, and reporting of secondary findings. The survey also gathered information about the participants' demographics, current and past pregnancies, and tolerance of uncertainty using the IUS‐12 scale. Participants were eligible if they were female, currently 24 or more weeks pregnant, and able to read/write enough English or Spanish to complete an online survey. Overall, participants (n = 56) preferred the option of having a prenatal test over not having a prenatal test (p < 0.01) and had substantially higher preferences for tests with the highest likelihood of getting a result (p < 0.01). There were also positive preferences for tests that reported secondary findings (p = 0.01) and those where results were returned by a genetic specialist (vs. their prenatal provider) (p = 0.04). These findings can be used to guide conversations between pregnant individuals and genetics specialists, such as genetic counselors, as they weigh the pros and cons of diagnostic prenatal testing options. [ABSTRACT FROM AUTHOR]

In this essay, a medical student details how she struggled to let go of a patient with whom she connected throughout the patient's pregnancy during her second year of medical school. Although she learned in her preclinical 'doctoring' courses how to build quick connections with patients, such training did not delve into how to manage meaningful, emotionally complex connections that may form with patients during longitudinal rotations or, as in this case, extracurricular activities. While primary care physicians may have decades of practice managing evolving longitudinal relationships, medical students who form strong connections with patients are just learning what it means to navigate those relationships, some of which come to an end. Reflecting on the end of this particular relationship helped the author appreciate the power of the longitudinal physician-patient relationship and taught her that taking care of patients also requires taking care of one's self. Key words: personal narratives; personal narratives as topic; communication; empathy; narration; narrative medicine / trends; physician-patient relations; therapeutic alliance; medical school, The first time I met her, she greeted me with a hug and kissed me on both cheeks. She was 29 years old and 16 weeks pregnant with her third [...]

Currently, there are multiple breast dosimetry estimation methods for mammography and its variants in use throughout the world. This fact alone introduces uncertainty, since it is often impossible to distinguish which model is internally used by a specific imaging system. In addition, all current models are hampered by various limitations, in terms of overly simplified models of the breast and its composition, as well as simplistic models of the imaging system. Many of these simplifications were necessary, for the most part, due to the need to limit the computational cost of obtaining the required dose conversion coefficients decades ago, when these models were first implemented. With the advancements in computational power, and to address most of the known limitations of previous breast dosimetry methods, a new breast dosimetry method, based on new breast models, has been developed, implemented, and tested. This model, developed jointly by the American Association of Physicists in Medicine and the European Federation for Organizations of Medical Physics, is applicable to standard mammography, digital breast tomosynthesis, and their contrast‐enhanced variants. In addition, it includes models of the breast in both the cranio‐caudal and the medio‐lateral oblique views. Special emphasis was placed on the breast and system models used being based on evidence, either by analysis of large sets of patient data or by performing measurements on imaging devices from a range of manufacturers. Due to the vast number of dose conversion coefficients resulting from the developed model, and the relative complexity of the calculations needed to apply it, a software program has been made available for download or online use, free of charge, to apply the developed breast dosimetry method. The program is available for download or it can be used directly online. A separate User's Guide is provided with the software. [ABSTRACT FROM AUTHOR]