Infant, Newborn, DiseasePISCESNCT04848090
Genome Sequencing in the Intensive Care Unit Population
A study testing Neonate WGS Testing in people with Infant, Newborn, Disease and Genetic Disease, run by Jerry Vockley, MD, PhD at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 1 year
- Conditions the study is for
- Infant, Newborn, Disease, Genetic Disease
- What is being tested?
- Neonate WGS Testing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 400 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Jul 2020to Jun 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 1 year
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Neonates: In order to be approached to participate, a neonate must meet all of the following 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
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- Documented informed consent from parent/guardian
- Parents: Parent of a neonate who meets the above inclusion criteria and who has been consented to participate in the study.
- Siblings: Siblings of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. Siblings will only be recruited if their participation has been determined to be essential to the accurate interpretation of the neonate's genetic studies.
- Historical Controls: Individuals who have been evaluated by Medical Genetics within the last 24 months and who meet the criteria for matched controls as defined by propensity score matching.
Who cannot join
- Neonates: An individual who meets any of the following criteria will be excluded from participating in this study:
- 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)
- Parents:
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- 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.
- Siblings:
- Is not a biological sibling of a neonate who meets the inclusion criteria
- Is not require for accurate interpretation of neonate results
- Having had previous genetic testing does not exclude the sibling from participating in this study.
- Historical Control: Has not been seen within the past 24 months and/or does not meet the criteria for matched control as defined by propensity score matching. Part of this matching requires that the historical control be matched to a study participant based on age, thus they will be selected based on all matching criteria and will be excluded if they do not meet the criteria, including age.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
About this study
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.
Read the detailed description
This is an observational study to understand if the use of whole genome sequencing (WGS) increases the speed to diagnosis and how clinical management is changed in an intensive care population of neonates. This project utilizes approved genome sequencing methods at CLIA-certified facilities.
- Neonate subjects who are eligible and whose parents consent to the study will undergo blood sample which will be sent for WGS and bioinformatics analysis, filtering first with a targeted panel of 1722 genes most likely to cause genetic disorders in the first year of life, and then with a whole exome filter if no obvious diagnosis is determined using the 1722 gene panel filter. Testing is completed in a CLIA-certified laboratory. Pathogenic, likely-pathogenic, and variants of uncertain significance in genes related the child's clinical features will be returned to the care team and to the parents in the setting of genetic counseling for use in clinical decision making about management. A report is added to the neonates EMR. Consent will include permission to access financial records of the hospitalization, to compare costs and length-of-stay to matched controls.
- Parents of identified neonates who consent to the study for the for the purpose of trio analysis will have samples collected which will undergo concurrent analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic secondary findings in the ACMG 59 later-onset medically actionable genes will be reported to the parents in the setting of genetic counseling ONLY if the parents opt in to learn these results AND they are identified in the child.
- Siblings of participating neonates, if needed for interpretation of the neonate's genetic studies, will have samples collected for use in the genetic analysis. Pathogenic and likely-pathogenic results in childhood-onset disorders will be reported to the parents in the setting of genetic counseling.
- Historical controls will be identified and matched to study participants. Historical controls will include infants in the ICU having a genetics consult ordered during their initial admission over the prior 24 months. Matching between study participants and matched controls will be performed using Propensity Scores. We will fit a logistical regression model to the combined treatment and control groups, and will then use the nearest neighbor matching to create matched pairs. The matching will help reduce bias and increase power to detect true effects. These controls will only be used for the fiscal and length of stay analyses; no genetic testing will be done on this cohort.
- Conditions
- Infant, Newborn, Disease, Genetic Disease
- Being tested
- Neonate WGS Testing
- Keywords
- Whole Genome Sequencing, Whole Exome Analysis, Rapid Genetic Sequencing
- Medical subject headings
- Disease, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neonate WGS TestingDiagnostic test
Neonates will undergo whole genome sequencing, and analysis with a targeted panel of genes likely to cause genetic disorders in the first year of life. If no diagnosis is identified, sequenced data will be analyzed using a whole exome filter. Performed in a CLIA-certified lab. Pathogenic, likely pathogenic, and VUS in genes related to the phenotype will be returned to the care team and family.
Parents will be enrolled for the purpose of trio analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic findings will be reported to the parents in the setting of genetic counseling.
Sibling will be enrolled and have samples collected for use in the genetic analysis only if deemed essential. Results will be reported to the parents in the setting of genetic counseling.
| Study group | Role | What they receive |
|---|---|---|
| Neonate WGS Testing | Other | Neonate subjects who are eligible and whose parents consent to study will undergo blood sampling which will be sent for whole genome sequencing and bioinformatics analysis, filtering first a targeted panel of 1722 genes most likely to cause genetic disorders in the first year of life, and then with a whole exome filter if no obvious diagnosis is determined using the 1722 gene panel filter. Receives: Diagnostic Test: Neonate WGS Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Confirmed Diagnosis
Categorical Y/N confirmed diagnosis in the neonate participant detected with WGS, compared to results from standard of care (SOC) or as seen in the historical control (HC)
Measured: Up to 4 years
Diagnostic Rate
Diagnostic rate with analysis via WGS, the 1722 neonatal specific gene filter, vs whole exome filter
Measured: Up to 4 years
Time to Diagnosis
Time to diagnosis in days with WGS as compared to SOC testing or HC
Measured: Up to 4 years
Clinical Utility of WGS
Clinical utility of WGS (e.g. changes in care management) compared to SOC or HC. Clinical utility is rated by a physician involved with case following the return of results using a Likert scale (1 - Not Useful at all, 2 - Not Very Useful, 3 - Neutral, 4 - Useful, 5 - Very Useful)
Measured: Up to 4 years
Care Cost Evaluation
Total care cost in dollars in those receiving WGS as compared to HC
Measured: Up to 4 years
Length of Stay
Total length of hospital stay in days in those receiving WGS as compared to HC
Measured: Up to 4 years
Need for Medical Utilization
Number of major medical procedures, imaging studies, or consulting services encounters in subjects receiving WGS compared to those in HC
Measured: Up to 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2021
- Study start13 Jul 2020
- Primary completionFeb 2027 (estimated)
- Study completionJun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Infant, Newborn, DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This is an observational study to understand if the use of whole genome sequencing (WGS) increases the speed to diagnosis and how clinical management is changed in an intensive care population of neonates. Participants will include 100 neonates and their parents for trio analysis, for up to 300 individuals for whom consent is obtained testing will be completed. Participants will also include 100 matched historical controls.
- Masking
- None (open label)
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jerry Vockley, MD, PhD
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Jerry Vockley, MD, PhD, University of Pittsburgh
- Investigators
- Gerard Vockley, MD, PhD, Principal investigator, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04848090
- Sponsor's protocol ID
- STUDY19050319
- Acronym
- PISCES
- Status last verified
- Jan 2026
- First submitted
- 13 Apr 2021
- Last updated
- 9 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genome Sequencing in the Intensive Care Unit Population
- ClinicalTrials.gov ID
- NCT04848090
- Acronym / sponsor ID
- PISCES / STUDY19050319
- Conditions
- Infant, Newborn, Disease, Genetic Disease
- Keywords
- Whole Genome Sequencing, Whole Exome Analysis, Rapid Genetic Sequencing
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Jerry Vockley, MD, PhDUniversity, hospital or other
- Study start
- 13 Jul 2020 (actual)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Jun 2027 (estimated)
- First posted
- 19 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This is an observational study to understand if the use of whole genome sequencing (WGS) increases the speed to diagnosis and how clinical management is changed in an intensive care population of neonates. This project utilizes approved genome sequencing methods at CLIA-certified facilities.
- Neonate subjects who are eligible and whose parents consent to the study will undergo blood sample which will be sent for WGS and bioinformatics analysis, filtering first with a targeted panel of 1722 genes most likely to cause genetic disorders in the first year of life, and then with a whole exome filter if no obvious diagnosis is determined using the 1722 gene panel filter. Testing is completed in a CLIA-certified laboratory. Pathogenic, likely-pathogenic, and variants of uncertain significance in genes related the child's clinical features will be returned to the care team and to the parents in the setting of genetic counseling for use in clinical decision making about management. A report is added to the neonates EMR. Consent will include permission to access financial records of the hospitalization, to compare costs and length-of-stay to matched controls.
- Parents of identified neonates who consent to the study for the for the purpose of trio analysis will have samples collected which will undergo concurrent analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic secondary findings in the ACMG 59 later-onset medically actionable genes will be reported to the parents in the setting of genetic counseling ONLY if the parents opt in to learn these results AND they are identified in the child.
- Siblings of participating neonates, if needed for interpretation of the neonate's genetic studies, will have samples collected for use in the genetic analysis. Pathogenic and likely-pathogenic results in childhood-onset disorders will be reported to the parents in the setting of genetic counseling.
- Historical controls will be identified and matched to study participants. Historical controls will include infants in the ICU having a genetics consult ordered during their initial admission over the prior 24 months. Matching between study participants and matched controls will be performed using Propensity Scores. We will fit a logistical regression model to the combined treatment and control groups, and will then use the nearest neighbor matching to create matched pairs. The matching will help reduce bias and increase power to detect true effects. These controls will only be used for the fiscal and length of stay analyses; no genetic testing will be done on this cohort.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This is an observational study to understand if the use of whole genome sequencing (WGS) increases the speed to diagnosis and how clinical management is changed in an intensive care population of neonates. Participants will include 100 neonates and their parents for trio analysis, for up to 300 individuals for whom consent is obtained testing will be completed. Participants will also include 100 matched historical controls.
| Arm | Type | Receives |
|---|---|---|
| Neonate WGS Testing | Other | Diagnostic Test: Neonate WGS TestingNeonate subjects who are eligible and whose parents consent to study will undergo blood sampling which will be sent for whole genome sequencing and bioinformatics analysis, filtering first a targeted panel of 1722 genes most likely to cause genetic disorders in the first year of life, and then with a whole exome filter if no obvious diagnosis is determined using the 1722 gene panel filter. |
Who may qualify
- Ages
- Up to 1 year
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (10 listed)
- Neonates: In order to be approached to participate, a neonate must meet all of the following criteria:
- Parents: Parent of a neonate who meets the above inclusion criteria and who has been consented to participate in the study.
- Siblings: Siblings of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. Siblings will only be recruited if their participation has been determined to be essential to the accurate interpretation of the neonate's genetic studies.
- Historical Controls: Individuals who have been evaluated by Medical Genetics within the last 24 months and who meet the criteria for matched controls as defined by propensity score matching.
Key exclusion criteria (14 listed)
- Neonates: An individual who meets any of the following criteria will be excluded from participating in this study:
- Parents:
- Siblings:
- Historical Control: Has not been seen within the past 24 months and/or does not meet the criteria for matched control as defined by propensity score matching. Part of this matching requires that the historical control be matched to a study participant based on age, thus they will be selected based on all matching criteria and will be excluded if they do not meet the criteria, including age.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Neonate WGS TestingNeonates will undergo whole genome sequencing, and analysis with a targeted panel of genes likely to cause genetic disorders in the first year of life. If no diagnosis is identified, sequenced data will be analyzed using a whole exome filter. Performed in a CLIA-certified lab. Pathogenic, likely pathogenic, and VUS in genes related to the phenotype will be returned to the care team and family. Parents will be enrolled for the purpose of trio analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic findings will be reported to the parents in the setting of genetic counseling. Sibling will be enrolled and have samples collected for use in the genetic analysis only if deemed essential. Results will be reported to the parents in the setting of genetic counseling. | Diagnostic test | Neonate WGS Testing |
Primary outcome
Confirmed Diagnosis
Time frame: Up to 4 years
Categorical Y/N confirmed diagnosis in the neonate participant detected with WGS, compared to results from standard of care (SOC) or as seen in the historical control (HC)
Diagnostic Rate
Time frame: Up to 4 years
Diagnostic rate with analysis via WGS, the 1722 neonatal specific gene filter, vs whole exome filter
Time to Diagnosis
Time frame: Up to 4 years
Time to diagnosis in days with WGS as compared to SOC testing or HC
Clinical Utility of WGS
Time frame: Up to 4 years
Clinical utility of WGS (e.g. changes in care management) compared to SOC or HC. Clinical utility is rated by a physician involved with case following the return of results using a Likert scale (1 - Not Useful at all, 2 - Not Very Useful, 3 - Neutral, 4 - Useful, 5 - Very Useful)
Care Cost Evaluation
Time frame: Up to 4 years
Total care cost in dollars in those receiving WGS as compared to HC
Length of Stay
Time frame: Up to 4 years
Total length of hospital stay in days in those receiving WGS as compared to HC
Need for Medical Utilization
Time frame: Up to 4 years
Number of major medical procedures, imaging studies, or consulting services encounters in subjects receiving WGS compared to those in HC
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Gerard Vockley, MD, PhD principal investigator
University of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Neonate WGS Testing in people with Infant, Newborn, Disease and Genetic Disease, run by Jerry Vockley, MD, PhD at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 9 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Confirmed Diagnosis (time frame: Up to 4 years). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jan 2026; AzTrials last refreshed its copy on 1 Nov 2026.