A broad analysis
Investigates sequence variants, CNVs, structural variants and mitochondrial DNA within the technical scope of WGS.
Rapid Genome in Intensive Care
Genomic information when clinical timing matters.
NeoGenoma UTI is a priority whole genome sequencing (WGS) stream for critically ill newborns and children with suspected genetic disease, with coordinated communication with the attending team.
Complete report within 10 calendar days after receiving the sample and necessary clinical information.
- Public
- Neonatal and pediatric ICU
- Deadline
- Up to 10 calendar days*
- Sample
- Blood or mouth swab
- Coordination
- Contact the assistant team
Clinical value
A broad investigation within a priority stream.
The goal is to reduce the fragmented sequence of tests when the critical condition may have a genetic cause and an answer can support treatment decisions, prognosis and family counseling.
Coordinated logistics
Activation, sample collection, transport and processing follow a dedicated flow from the hospital environment.
Updated phenotype
Medical records, clinical evolution and contact with the assistant team help to prioritize relevant findings.
Clinical indication
When to consider NeoGenoma UTI?
In critical patients with suspected genetic etiology in whom the timing of the investigation may influence the management of the case — including when the presentation is atypical or does not point to a specific syndrome.
Eligibility is determined by the assisting team. Infection, trauma, prematurity and other acquired causes need to be investigated in parallel; the presence of one of them does not confirm or exclude a genetic condition.
01
Early neurological crises
Neonatal seizures, encephalopathy, severe hypotonia or rapid regression without defined cause.
02
Multisystem bankruptcy
Multiple organ involvement, shock or severe evolution without established etiology.
03
Cardiometabolic and immunological
Cardiomyopathies, refractory acidosis, metabolic disorders or severe immunodeficiencies.
04
Multiple malformations
Malformative syndromes or complex presentations that do not point to a single diagnosis.
Guidelines and consensus
Exome or genome at the beginning of the investigation.
01 · NSGC/AES
Epilepsy without identified cause
NSGC recommends offering genetic testing with no age limit. Exome sequencing, genome sequencing, and/or a multigene panel with more than 25 genes are first-line options, with a conditional recommendation of exome or genome sequencing over the panel. The guideline is endorsed by the AES.
02 · ACMGCongenital anomalies, developmental delay or intellectual disability
The ACMG strongly recommends considering exome or genome sequencing as a first- or second-line test in pediatric patients with congenital anomalies of onset before age 1 year or developmental delay/intellectual disability of onset before age 18 years.
03 · IPCHiPUnexplained neonatal hypotonia
A multicenter consensus of experts from IPCHiP member centers recommends rapid genome or exome sequencing as a first-line option in the neonatal ICU, without excluding rapid targeted tests when clinically indicated.
04 · AAPGlobal developmental delay or intellectual disability
The AAP recommends exome or genome sequencing as a first-line test in most circumstances. The algorithm also considers the chromosomal microarray and adapts the sequence to the method and clinical context.
How to interpret: “first line” or “first stage” describes when a test can enter the diagnostic strategy; does not guarantee diagnosis or replace clinical evaluation, genetic counseling or targeted tests indicated for the case. Each item opens the original publication.
Analysis strategy
Clinical data are essential to interpret the genome.
Evolution in the ICU can add important signs after the request. Up-to-date phenotypic information helps you prioritize compatible variants and interpret the result in the right context.
Structured clinical picture
Manifestations, tests, gestational history, evolution and family history guide the analysis; new relevant data must be communicated.
Comparative samples when indicated
The analysis can be performed on the patient and, when defined by the team, include one or both parents to clarify inheritance and prioritize findings.
Result linked to clinical decision
A relevant finding can support diagnosis and management. A negative or uncertain result also limits the investigation, but does not exclude a genetic cause.
Brazilian evidence · Rare Genomes Project
Brazilian data in ICU: 100 babies, seven public hospitals.
A national prospective study evaluated genome sequencing in babies under one year old admitted to neonatal or pediatric ICUs in four states. It is the largest South American cohort published in this context.
João B. Oliveira, senior author, and Brazilian team
Results produced in the context of the Brazilian health system.
João B. Oliveira, director of the NeoGenômica laboratory, created and led the project and is the senior and corresponding author of the study. The work has Carolina A. Moreno and Marina de França as first authors, with equal contribution, and brings together a broad team of researchers and professionals from the seven participating public hospitals.
The research is part of the Rare Genomes Project, in a public-private partnership financed by Hospital Israelita Albert Einstein and the Ministry of Health through PROADI-SUS.
39%
Potential diagnostic yield
32 confirmed molecular diagnoses and another 7 probably diagnostic results among 100 babies.
81,1%
Perceived clinical usefulness
73 of 90 attending physicians considered the result clinically useful.
32,2%
Influence on management
29 of 90 cases had a reported impact on clinical management, including support, surveillance, palliative care, or targeted therapy.
70%
Genetic counseling
63 of 90 doctors considered the result relevant for family counseling.
First genetic test in 88% of cases. In 20 of the 32 confirmed diagnoses, the genome established the etiology without a previous specific clinical hypothesis or modified the initial hypothesis.
Deadline observed in the study: median of 13 days. The interval was 7 to 25 days, counting from receipt of the sample to the report. This data belongs to the research protocol and is different from the current deadline of NeoGenoma UTI informed on this page.
International base · Stephen Kingsmore and collaborators
From proof of concept to multicenter implementation.
The international studies below have helped establish the feasibility, diagnostic speed, and clinical utility of rapid genome sequencing in the ICU. Brazilian data remain the closest reference for our care context.
01 · 2012
50-hour prototype
Saunders and colleagues demonstrated preliminary genome analysis in about 50 hours to support differential diagnosis in the NICU. It was a small proof of concept, not an outcomes study.
02 · NSIGHT1Earlier diagnosis
In the randomized trial with 65 babies, 31% of the rapid genome group received a diagnosis within 28 days, compared to 3% cith conventional tests. The study ended early and was not powered to demonstrate differences in mortality.
03 · 2018Diagnosis and management
In the retrospective cohort by Farnaes and colleagues, 18 of 42 infants were diagnosed by rapid genomics and 13 of 42 had a change of care associated with the outcome.
04 · PICUMulticenter cohort
In four pediatric or cardiac ICUs, 79 of 133 selected patients received a diagnosis; 19 of those diagnosed had a change in intensive management. Clinical selection and retrospective predominance limit generalization.
How to interpret: percentages from different studies should not be directly compared. Inclusion criteria, severity, family strategy, variant classes, definition of usefulness and time to result vary. None of these numbers guarantee diagnosis, change of management, or benefit for an individual patient.
Hospital integration
The test does not replace intensive assessment.
Newborn screening, metabolic investigation, microbiology, imaging and clinical assessments remain essential. Genomic data adds a diagnostic layer to multidisciplinary care.
- 01Updated clinical data to guide curation.
- 02Discussion of critical findings with the assistant team.
- 03Report for medical records and family guidance when applicable.
Post-report follow-up
Science evolves. The interpretation of a variant may also evolve.
All NeoGenomica tests include Infinity VUS for variants of uncertain significance that are reported.
Your result monitored over time
A variant of uncertain significance, or VUS, is a finding for which the available evidence does not yet allow us to conclude whether it is related to the disease. Infinity VUS monitors classification updates even after the report is issued.
-
01 · Monitor
Periodically compares reported VUS with new evidence and classifications.
-
02 · Review
A material change is forwarded for expert review before any communication.
-
03 · Update
When the reclassification is confirmed and applicable to the case, the responsible team is notified and the report can be updated.
Priority flow
From ICU to clinical outcome.
Dedicated coordination to integrate WGS quickly into the hospital routine, from activation to report.
-
01
Immediate request
The team confirms the indication, receives clinical data and organizes hospital logistics.
-
02
Bedside sample collection
Peripheral blood or buccal swabs are collected by the assistant team as directed.
-
03
Priority transportation
The sample goes through dedicated and traceable logistics to the laboratory.
-
04
WGS and clinical curation
The genome is sequenced, processed and reviewed in contact with the care context.
-
05
Clinical outcome
Critical findings are discussed when applicable and the complete report is delivered within 10 calendar days.*
* Deadline counted after receipt of the sample and necessary clinical information.
Frequently asked questions
Before activating the protocol.
Is whole genome sequencing recommended as a first-line test?+
Yes, in selected pediatric indications. Professional guidelines support exome or genome as first-line, first-level or early use tests in scenarios such as global developmental delay, intellectual disability, certain congenital anomalies, epilepsy with no clear cause, and unexplained hypotonia in the neonatal ICU. The exact recommendation varies by condition and does not mean WGS for every patient. See recommendations and sources.
What is the benefit of rapid WGS in the ICU?+
When a genetic disease is suspected, a broad investigation in a priority stream can reduce sequential testing and provide additional information for discussion of treatment, prognosis and counseling.
When will the full report be ready?+
Within 10 calendar days after receiving the appropriate sample and necessary clinical information. Critical findings can be discussed with the assisting team when applicable.
How is sample collection done in the ICU?+
The team guides the use of peripheral blood or buccal swab, documentation, identification and packaging. sample collection can be carried out at the bedside by the hospital team.
Is it necessary to send samples from parents?+
Not always. Depending on the strategy defined for the case, an individual, duo or trio analysis can be considered. Parental samples can help recognize new variants, confirm inheritance, and reduce ambiguities, but they do not in themselves extend the technical reach of WGS.
Does a negative result exclude genetic disease?+
No. Some variants and mechanisms may fall outside the technical scope or current knowledge. The team relates the report to the evolution and defines whether other tests, reassessment or future reanalysis are necessary.
Does the test replace screening and other tests?+
No. WGS complements the investigation. Metabolic screenings, microbiological examinations, imaging and clinical assessments remain essential.
How do the findings reach the assistant team?+
Communication is coordinated with the referring physician. The complete report organizes findings, evidence, limits and clinical implications for incorporation into the medical record.
Hospital support
Activate NeoGenoma UTI.
Direct channel for neonatologists, intensivists and hospital teams to organize referral, sample collection and transport.
Catalog information
Technical data of NeoGenoma UTI
Rapid genome for critically ill patients with suspected genetic condition.
- Applications
- Rare and hereditary diseases, Genome-wide investigation, Intensive care
- Accepted samples
- peripheral blood (preferred), Mouth swab, DNA extraído
- Estimated deadline
- 10 calendar days, contados após the complete documentation.
- Methodology
- Whole genome sequencing (WGS) in priority laboratory flow.
- Analytical scope
- Sequence variants, CNVs, structural variants and mitochondrial DNA within the technical scope of WGS.
- Medical request
- Required
Requirements
Medical request, adequate sample, updated clinical information and coordination with the neonatal or pediatric assistant team.
Limitations
It does not replace neonatal screening, metabolic investigation, microbiology, imaging or intensive evaluation. Clinical impact is not guaranteed for every patient.
