Genome Sequencing in the Intensive Care Unit Population (NCT04848090) | Clinical Trial Compass
By InvitationNot Applicable
Genome Sequencing in the Intensive Care Unit Population
United States400 participantsStarted 2020-07-13
Plain-language summary
The purpose of this study is to understand how the use of whole genome sequencing (WGS) may be able to increase the speed with which a diagnosis is made for patients in an intensive care unit population. This is not an assessment of a new device, test, or technology. This project is an investigation of the utility of this technology in clinical care when compared to standard of care testing. The study will look at the ability to more quickly diagnose a patient (time to diagnosis and efficacy of testing) as compared to standard of care testing. The study will also look at the impact of WGS on patient outcomes and cost of clinical care.
Who can participate
Age range1 Year
SexALL
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Inclusion criteria
✓. Greater than 24 weeks gestational age
✓. Birth weight greater than 600 grams
✓. Admitted to the intensive care unit at UPMC Children's Hospital (CHP) and/or Magee Women's Hospital
✓. Possibility of a genetic disorder based on signs, symptoms, and laboratory values triggering a formal clinical medical genetics consult by the clinical care team.
✓. Triaged by PI or attending co-investigators and prioritized to introduction of this research study based on patient-specific clinical concerns
✓. Documented informed consent from parent/guardian
Exclusion criteria
✕. Has a known etiologic diagnosis (e.g. prenatal testing)
✕. Has a major congenital anomaly (renal, cardiac, hepatic, neurological, or pulmonary malformations) associated with a chromosomal anomaly detected on prenatal testing (e.g. ultrasound, genetic testing)
✕. Sequencing sent after birth for any other reason than the genetics consult that triggers the study
✕. Presence of documented significant congenital infection (e.g. congenital cytomegalovirus)
✕. Is not the biological parent of the identified neonate
✕. There is no exclusion for parent participation. If the parent is less than 18 years of age, however, these individuals will be asked to assent to the study and their parent(s) will be asked to provide permission/consent for the minor parent's participation
✕. Having had previous genetic testing does not exclude the parent from participating in this study.
✕. Is not a biological sibling of a neonate who meets the inclusion criteria