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Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.

ABSTRACT: Rapid genomic sequencing (RGS) is increasingly being used in the care of critically ill children. Here we describe a qualitative study exploring parent and professional perspectives around the usefulness of this test, the potential for unintended harms and the challenges for delivering a wider clinical service. The Rapid Paediatric Sequencing (RaPS) study offered trio RGS for diagnosis of critically ill children with a likely monogenic disorder. Main and actionable secondary findings were reported. Semi-structured interviews were conducted with parents of children offered RGS (n?=?11) and professionals (genetic clinicians, non-genetic clinicians, scientists and consenters) (n?=?19) by telephone (parents n?=?10/professionals n?=?1) or face-to-face (parents n?=?1/professionals n?=?18). We found that participants held largely positive views about RGS, describing clinical and emotional benefits from the opportunity to obtain a rapid diagnosis. Parental stress surrounding their child's illness complicates decision making. Parental concerns are heightened when offered RGS and while waiting for results. The importance of multidisciplinary team working to enable efficient delivery of a rapid service was emphasised. Our findings give insight into the perceived value of RGS for critically ill children. Careful pre-test counselling is needed to support informed parental decision making. Many parents would benefit from additional support while waiting for results. Education of mainstream clinicians is required to facilitate clinical implementation.

SUBMITTER: Hill M

PROVIDER: S-EPMC7575551 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.

Hill Melissa M Hammond Jennifer J Lewis Celine C Mellis Rhiannon R Clement Emma E Chitty Lyn S LS

European journal of human genetics : EJHG 20200619 11

Rapid genomic sequencing (RGS) is increasingly being used in the care of critically ill children. Here we describe a qualitative study exploring parent and professional perspectives around the usefulness of this test, the potential for unintended harms and the challenges for delivering a wider clinical service. The Rapid Paediatric Sequencing (RaPS) study offered trio RGS for diagnosis of critically ill children with a likely monogenic disorder. Main and actionable secondary findings were report ...[more]

PMID: 32561901

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Project description:BackgroundNo consensus based national standard for interhospital transports of critically ill patients exists in Norway. The local hospitals are responsible for funding, organizing and performing these transports, resulting in potentially different level of care for the critically ill patients depending on local hospital resources and not the level of severity in the patient's condition. The aim of this study was to examine how these transports are executed and to discover challenges during transports and potentials of improvement.MethodsA qualitative study with 20 semi-structured interviews of doctors, nurses and ambulance personnel representing a wide range in experience and formal education, reflecting the different compositions of crews performing interhospital transports was conducted. A systematic text condensation of the interviews was performed to describe personal experiences and values.ResultsFew interviewees reported special adverse events when asked. Instead they chose to describe more general characteristics of the working environment, their own positive emotions or fears and the strengths and weaknesses of the organizational system. The prehospital working environment was described as different from the in-hospital environment. The personnel experienced being on their own during transports, lack of procedures and checklists and often no systematic education or demanded preparedness for participating. The resident doctors described pressure from elderly colleagues to participate in the transports. At the same time, all interviewees reported a self-interest in participating in these transports.ConclusionsSafe interhospital transports of the critically ill patients are challenged by the characteristics of the out of hospital environment. The transports are described as potentially unsafe for both patients and personnel. Systematic education is warranted, highlighting the use of checklists and special educational programs in prehospital critical care medicine. The strong personal interest to participate in these transports may serve as a barrier against changing todays system. To ensure the right level of competence and safety for each unique patient, it is imperative to standardize the interhospital transports on a national level, built on consensus from experienced prehospital personnel.Trial registrationThe trial is approved and registered by the local representative for the Norwegian Data Protection Authority as trial 13-7751.

Project description:BackgroundElevated serum ferritin is a common condition in critically ill patients. It is well known that hyperferritinemia constitutes a good biomarker for hemophagocytic lymphohistiocytosis (HLH) in critically ill patients. However, further differential diagnoses of hyperferritinemia in adult critically ill patients remain poorly investigated. We sought to systematically investigate hyperferritinemia in adult critically ill patients without HLH.MethodsIn this secondary analysis of a retrospective observational study, patients ≥18 years admitted to at least one adult intensive care unit at Charité-Universitätsmedizin Berlin between January 2006 and August 2018, and with hyperferritinemia of ≥500 μg/L were included. Patients with HLH were excluded. All patients were categorized into non-sepsis, sepsis, and septic shock. They were also classified into 17 disease groups, based on their ICD-10 codes, and pre-existing immunosuppression was determined. Uni- and multivariable linear regression analyses were performed in all patients.ResultsA total of 2583 patients were analyzed. Multivariable linear regression analysis revealed positive associations of maximum SOFA score, sepsis or septic shock, liver disease (except hepatitis), and hematological malignancy with maximum ferritin. T/NK cell lymphoma, acute myeloblastic leukemia, Kaposi's sarcoma, acute or subacute liver failure, and hepatic veno-occlusive disease were positively associated with maximum ferritin in post-hoc multivariable linear regression analysis.ConclusionsSepsis or septic shock, liver disease (except hepatitis) and hematological malignancy are important differential diagnoses in hyperferritinemic adult critically ill patients without HLH. Together with HLH, they complete the quartet of important differential diagnoses of hyperferritinemia in adult critically ill patients. As these conditions are also related to HLH, it is important to apply HLH-2004 criteria for exclusion of HLH in hyperferritinemic patients. Hyperferritinemic critically ill patients without HLH require quick investigation of differential diagnoses.

Project description:Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results are usually reported too late to guide inpatient management. We performed an investigator-initiated, partially blinded, pragmatic, randomized, controlled trial to test the hypothesis that rapid whole-genome sequencing (rWGS) increased the proportion of NICU/PICU infants receiving a genetic diagnosis within 28 days. The participants were families with infants aged <4 months in a regional NICU and PICU, with illnesses of unknown etiology. The intervention was trio rWGS. Enrollment from October 2014 to June 2016, and follow-up until November 2016. Of all, 26 female infants, 37 male infants, and 2 infants of undetermined sex were randomized to receive rWGS plus standard genetic tests (n = 32, cases) or standard genetic tests alone (n = 33, controls). The study was terminated early due to loss of equipoise: 73% (24) controls received genomic sequencing as standard tests, and 15% (five) controls underwent compassionate cross-over to receive rWGS. Nevertheless, intention to treat analysis showed the rate of genetic diagnosis within 28 days of enrollment (the primary end-point) to be higher in cases (31%, 10 of 32) than controls (3%, 1 of 33; difference, 28% [95% CI, 10-46%]; p = 0.003). Among infants enrolled in the first 25 days of life, the rate of neonatal diagnosis was higher in cases (32%, 7 of 22) than controls (0%, 0 of 23; difference, 32% [95% CI, 11-53%];p = 0.004). Median age at diagnosis (25 days [range 14-90] in cases vs. 130 days [range 37-451] in controls) and median time to diagnosis (13 days [range 1-84] in cases, vs. 107 days [range 21-429] in controls) were significantly less in cases than controls (p = 0.04). In conclusion, rWGS increased the proportion of NICU/PICU infants who received timely diagnoses of genetic diseases.

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Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.

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Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.

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