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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naive.

ABSTRACT: PURPOSE:In 2014, our institution launched a randomized controlled trial (RCT) comparing rapid genome sequencing (GS) to standard clinical evaluations of infants with suspected genetic disorders. This study aimed to understand parental response to the use of GS for their newborn babies. METHODS:Twenty-three of 128 parents whose infant had enrolled in the RCT completed a retrospective survey and interview addressing attitudes about GS and responses to receiving diagnostic information. We also collected information about participants' genetic literacy, genetic knowledge, numeracy, and symptoms of anxiety and depression. RESULTS:The majority reported positive (13; 56.5%) or neutral 4 (4; 17.4%) feelings when approached about GS for their infant and 100% felt that GS was generally beneficial. The 12 participants who had received a unifying diagnosis for their child's symptoms described personal utility of the information. Some reported the diagnosis led to changes in medical care. Participants showed understanding of some of the psychological risks of GS. For example, 21 (91.3%) agreed or strongly agreed that genetic testing could reveal disturbing results. CONCLUSIONS:Parents who enrolled their newborn in a RCT of GS demonstrated awareness of a psychological risk, but generally held positive beliefs about GS and perceived the benefits outweighed the risk.

SUBMITTER: Berrios C

PROVIDER: S-EPMC7004847 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.

Berrios Courtney C Koertje Catherine C Noel-MacDonnell Janelle J Soden Sarah S Lantos John J

Genetics in medicine : official journal of the American College of Medical Genetics 20190830 2

<h4>Purpose</h4>In 2014, our institution launched a randomized controlled trial (RCT) comparing rapid genome sequencing (GS) to standard clinical evaluations of infants with suspected genetic disorders. This study aimed to understand parental response to the use of GS for their newborn babies.<h4>Methods</h4>Twenty-three of 128 parents whose infant had enrolled in the RCT completed a retrospective survey and interview addressing attitudes about GS and responses to receiving diagnostic informatio ...[more]

PMID: 31467447

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Project description:BackgroundAssessing pain in neonates is crucial for their management but is inherently subjective. This study investigated the effects of visual attention, gaze patterns, and empathic responses of neonatal healthcare professionals on their assessments of neonatal pain.MethodsConducted at the Department of Neonatology, University Medical Center Hamburg-Eppendorf, we employed eye-tracking to monitor staff's responses to videos depicting neonates experiencing non-noxious thermal, brief noxious, and prolonged noxious stimuli. Videos were presented in two formats: full body view, providing contextual information, and face-only view, lacking contextual details. Pain assessments were measured using a Faces Pain Rating Scale (FPRS), exploring the impacts of contextual cues, professional experience, and job roles.ResultsThe study found brief and prolonged noxious stimuli eliciting significantly higher FPRS scores compared to non-painful stimuli, with the full body view resulting in higher pain ratings than the face-only view. The mouth region attracted focused attention. Nurses generally reported higher pain scores and exhibited larger pupil diameters compared to physicians, suggesting a stronger empathic response.ConclusionThis research highlights the essential role of visual cues and empathic responses in neonatal pain assessment, demonstrating how professional roles and stimulus presentation format impact evaluations, and underlining the need for standardised protocols to improve neonatal pain management accuracy.SignificanceThe study emphasises the importance of visual cues and empathy in neonatal pain assessment, highlighting the roles of healthcare professionals and stimulus presentation formats. It addresses challenges in understanding neonatal pain, advocating for standardised protocols. Using eye-tracking technology, the research explores how professionals' visual attention and empathy affect pain evaluations, suggesting more objective assessment methods.

Project description:BackgroundPrior to the COVID-19 pandemic, parents of infants in the Neonatal Intensive Care Unit (NICU) frequently reported high levels of stress, uncertainty, and decreased parenting confidence. Early research has demonstrated that parents have had less access to their infants in the hospital due to restrictions on parental presence secondary to the pandemic. It is unknown how parents have perceived their experiences in the NICU since the beginning of the COVID-19 pandemic. The purpose of this study was to describe the lived experience of parents who had an infant in the NICU in the context of the COVID-19 pandemic to inform healthcare providers and policy makers for future development of policies and care planning.MethodsThe study design was a qualitative description of the impact of the COVID-19 pandemic on parents' experiences of having an infant in the NICU. Free-text responses to open-ended questions were collected as part of a multi-method study of parents' experiences of the NICU during the first six months of the pandemic. Participants from the United States were recruited using social media platforms between the months of May and July of 2020. Data were analyzed using a reflexive thematic approach.FindingsFree-text responses came from 169 parents from 38 different states in the United States. Three broad themes emerged from the analysis: (1) parents' NICU experiences during the COVID-19 pandemic were emotionally isolating and overwhelming, (2) policy changes restricting parental presence created disruptions to the family unit and limited family-centered care, and (3) interactions with NICU providers intensified or alleviated emotional distress felt by parents. A unifying theme of experiences of emotional distress attributed to COVID-19 circumstances ran through all three themes.ConclusionsParents of infants in the NICU during the first six months of the COVID-19 pandemic experienced emotional struggles, feelings of isolation, lack of family-centered care, and deep disappointment with system-level decisions. Moving forward, parents need to be considered essential partners in the development of policies concerning care of and access to their infants.

Project description:Background: Normal cell BRCA1 epimutations have been associated with increased risk of triple-negative breast cancer (TNBC). However, the fraction of TNBCs that may have BRCA1 epimutations as their underlying cause is unknown. Neither are the time of occurrence and the potential inheritance patterns of BRCA1 epimutations established. Methods: To address these questions, we analyzed BRCA1 methylation status in breast cancer tissue and matched white blood cells (WBC) from 408 patients with 411 primary breast cancers, including 66 TNBCs, applying a highly sensitive sequencing assay, allowing allele-resolved methylation assessment. Further, to assess the time of origin and the characteristics of normal cell BRCA1 methylation, we analyzed umbilical cord blood of 1260 newborn girls and 200 newborn boys. Finally, we assessed BRCA1 methylation status among 575 mothers and 531 fathers of girls with (n = 102) and without (n = 473) BRCA1 methylation. Results: We found concordant tumor and mosaic WBC BRCA1 epimutations in 10 out of 66 patients with TNBC and in four out of six patients with estrogen receptor (ER)-low expression (<10%) tumors (combined: 14 out of 72; 19.4%; 95% CI 11.1–30.5). In contrast, we found concordance in only three out of 220 patients with 221 ER≥10% tumors and zero out of 114 patients with 116 HER2-positive tumors. Intraindividually, BRCA1 epimutations affected the same allele in normal and tumor cells. Assessing BRCA1 methylation in umbilical WBCs from girls, we found mosaic, predominantly monoallelic BRCA1 epimutations, with qualitative features similar to those in adults, in 113/1260 (9.0%) of individuals, but no correlation to BRCA1 methylation status either in mothers or fathers. A significantly lower fraction of newborn boys carried BRCA1 methylation (9 / 200; 4.5%) as compared to girls (p = 0.038). Similarly, WBC BRCA1 methylation was found less common among fathers (16/531; 3.0%), as compared to mothers (46 / 575; 8.0%; p = 0.0003). Conclusions: Our findings suggest prenatal BRCA1 epimutations might be the underlying cause of around 20% of TNBC and low-ER expression breast cancers. Such constitutional mosaic BRCA1 methylation likely arise through gender-related mechanisms in utero, independent of Mendelian inheritance.

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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naive.

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Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.

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