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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]

Background: COVID-19 vaccines were key to controlling the pandemic and vaccination has been discussed extensively by the media and the public since 2020. We aimed to explore parents' attitudes towards routine childhood vaccination since COVID-19 and how the pandemic impacted their experiences of getting their child vaccinated. Methods: We used a mixed-methods approach—involving a questionnaire survey followed by focus groups. We partnered with The Mosaic Community Trust, an ethnic minority women's group based in a deprived area of North-West London, United Kingdom (UK) with historically low childhood vaccine uptake. Descriptive findings from the questionnaires were reported and chi-square analyses performed to examine differences by ethnicity. Thematic analysis of the free-text questionnaire responses and focus groups was undertaken, guided by the COM-B model of Capability, Opportunity, and Motivation. Results: Between Jun-Oct 2022, 518 parents completed the questionnaire (25% from ethnic minorities). Between March-May 2023 we held four focus groups with 22 parents (45% from ethnic minorities). Most parents (>90%) thought routine childhood vaccines for children were important. Over a third (38%) of all parents reported having more questions about childhood vaccines since COVID-19, though among parents belonging to an ethnicity group other than white, 59% said they had more questions compared to those of any white ethnicity group (30%, (p = <0.0001)). Difficulties accessing vaccine appointments were commoner reasons for children's vaccinations being delayed than parents increased concerns about vaccines. Since COVID-19 some parents felt vaccinations were even more important, and a very small minority felt the pandemic had made them mistrust vaccinations. Conclusion: Following COVID-19, we found parents remain confident in childhood vaccines. However, some parents, particularly from ethnic minority groups may have more questions about childhood vaccines than pre-pandemic. Post COVID-19, to address declining vaccine uptake, parents need easy access to healthcare professionals to answer questions about childhood vaccinations. [ABSTRACT FROM AUTHOR]

Primary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied. Semi-structured interviews were conducted with three participants aged 18–24 years. Four interconnected group experiential themes were identified: (1) reconceptualising a stigmatised identity, (2) sharing the journey to independence, (3) entering adulthood with newfound autonomy, (4) anticipating an uncertain future. Overall, we found that transition for young people with PCD presents as a complex period marked by identity-formation, creating systems of support and becoming an autonomous adult. Facilitation of personalised and integrated approaches to care should be prioritised. Our findings are important to help health professionals provide appropriate, anticipatory support. [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]