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ClinicalTrials.gov public records Last synced Oct 24, 2026, 3:29 PM EDT

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Showing 1–24 of 101 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Sequencing Clear all
Completed Not applicable Interventional Accepts healthy volunteers Results available

North Carolina Newborn Exome Sequencing for Universal Screening

NCT02826694
View directory record Official record
Conditions
Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
Interventions
Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
Genetic
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
1 Hour to 5 Years
Enrollment
106 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Chapel Hill, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 8, 2020 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

NCT03829176
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Whole Genome Sequencing
Genetic
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
3 Months and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Nov 18, 2020 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

NCT03842995
View directory record Official record
Conditions
Whole Genome Sequencing
Interventions
Genetic Counselor, Trained Healthcare Provider
Behavioral
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
Not listed
Enrollment
477 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
3
States / cities
Birmingham, Alabama • Baton Rouge, Louisiana • Jackson, Mississippi
Source: ClinicalTrials.gov public record
Updated Dec 13, 2024 · Synced Oct 24, 2026, 3:29 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes

NCT00102245
View directory record Official record
Conditions
Hemoglobinopathies, Hemolysis, Iron Deficiency and Overload, Anemias
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
1 Year and older
Enrollment
334 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 14, 2018 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare

NCT01736566
View directory record Official record
Conditions
Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
Interventions
Family History + Whole Genome Sequencing, Family History Only
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 90 Years
Enrollment
213 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Aug 27, 2024 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional

NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

NCT03738098
View directory record Official record
Conditions
Genetic Diseases, Inborn, Genetic Predisposition to Disease
Interventions
Standard of Care, GUÍA
Behavioral
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
Up to 21 Years
Enrollment
650 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
New York, New York • The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Dec 13, 2023 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional Results available

Genomic Sequencing for Childhood Risk and Newborn Illness

NCT02422511
View directory record Official record
Conditions
Hereditary Disease, Genetic Predisposition to Disease
Interventions
Genomic sequencing, Family history report
Genetic · Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
Not listed
Enrollment
1,205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2021
U.S. locations
2
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 3, 2024 · Synced Oct 24, 2026, 3:29 PM EDT
Not listed No phase listed Observational

Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients

NCT05739890
View directory record Official record
Conditions
Fertility Issues, Single-Gene Defects
Interventions
Embryo genome sequencing, Parents genome sequencing
Other
Lead sponsor
GenEmbryomics Pty. Ltd
Industry
Eligibility
18 Years to 48 Years
Enrollment
100 participants
Timeline
2023 – 2024
U.S. locations
3
States / cities
New York, New York • Portland, Oregon • Kirkland, Washington
Source: ClinicalTrials.gov public record
Updated Sep 25, 2023 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional

The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

NCT03380819
View directory record Official record
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 26, 2023 · Synced Oct 24, 2026, 3:29 PM EDT
Not listed No phase listed Observational

Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET)

NCT03053999
View directory record Official record
Conditions
Multiple Endocrine Neoplasia, Pancreatic Neuroendocrine Tumors, Hyperparathyroidism
Interventions
Genome Sequencing, Data Review
Other
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
Not listed
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2023
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Sep 12, 2019 · Synced Oct 24, 2026, 3:29 PM EDT
Terminated No phase listed Observational

Clinical Performance of the MaterniT21 PLUS LDT in Multiple Gestation Pregnancies

NCT02226315
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 17, 2015 · Synced Oct 24, 2026, 3:29 PM EDT
Terminated Not applicable Interventional Results available

Genetic Sequencing-Informed Targeted Therapy in Treating Patients With Stage IIIB-IV Non-small Cell Lung Cancer

NCT02132884
View directory record Official record
Conditions
Malignant Pericardial Effusion, Malignant Pleural Effusion, Recurrent Non-small Cell Lung Cancer, Stage IIIB Non-small Cell Lung Cancer, Stage IV Non-small Cell Lung Cancer
Interventions
cytology specimen collection procedure, therapeutic procedure, targeted therapy, laboratory biomarker analysis
Other · Procedure · Drug
Lead sponsor
Fox Chase Cancer Center
Other
Eligibility
Not listed
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 4, 2019 · Synced Oct 24, 2026, 3:29 PM EDT
Not listed No phase listed Observational

Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

NCT06082999
View directory record Official record
Conditions
Epilepsy
Interventions
Not listed
Lead sponsor
Great Ormond Street Hospital for Children NHS Foundation Trust
Other
Eligibility
Up to 12 Months
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 13, 2023 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care

NCT03460483
View directory record Official record
Conditions
Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
Interventions
Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis, Mutation Carrier Screening
Other · Procedure
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
1,001 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2025
U.S. locations
9
States / cities
Akron, Ohio • Canton, Ohio • Cincinnati, Ohio + 3 more
Source: ClinicalTrials.gov public record
Updated Oct 3, 2025 · Synced Oct 24, 2026, 3:29 PM EDT
Completed No phase listed Observational

Genetic Mutations in Blood and Tissue Samples in Predicting Response to Treatment in Patients With Locally Advanced Rectal Cancer Undergoing Chemoradiation

NCT02132858
View directory record Official record
Conditions
Mucinous Adenocarcinoma of the Rectum, Recurrent Rectal Cancer, Signet Ring Adenocarcinoma of the Rectum, Stage IIA Rectal Cancer, Stage IIB Rectal Cancer, Stage IIC Rectal Cancer, Stage IIIA Rectal Cancer, Stage IIIB Rectal Cancer, Stage IIIC Rectal Cancer
Interventions
cytology specimen collection procedure, laboratory biomarker analysis
Other
Lead sponsor
Fox Chase Cancer Center
Other
Eligibility
18 Years and older
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated May 2, 2024 · Synced Oct 24, 2026, 3:29 PM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Rapid Whole Genome Sequencing Study

NCT03385876
View directory record Official record
Conditions
Genetic Diseases, Genetic Syndrome
Interventions
Genomic sequencing and molecular diagnostic results, if any
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2050
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Dec 23, 2021 · Synced Oct 24, 2026, 3:29 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 27, 2025 · Synced Oct 24, 2026, 3:29 PM EDT
Completed No phase listed Observational

NIAID Clinical Center Genomics Opportunity Protocol

NCT02417766
View directory record Official record
Conditions
Immune Disorders
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
139 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 16, 2023 · Synced Oct 24, 2026, 3:29 PM EDT
Active, not recruiting No phase listed Observational

Genetic Analysis in Blood and Tumor Samples From Patients With Advanced or Metastatic Estrogen Receptor Positive and HER2 Negative Breast Cancer Receiving Palbociclib and Endocrine Therapy

NCT03281902
View directory record Official record
Conditions
Advanced Breast Carcinoma, Locally Advanced Breast Carcinoma, Metastatic Breast Carcinoma, Recurrent Breast Carcinoma, Stage III Breast Cancer AJCC v7, Stage IIIA Breast Cancer AJCC v7, Stage IIIB Breast Cancer AJCC v7, Stage IIIC Breast Cancer AJCC v7, Stage IV Breast Cancer AJCC v6 and v7
Interventions
Biopsy, Biospecimen Collection, Laboratory Biomarker Analysis
Procedure · Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older · Female only
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2028
U.S. locations
3
States / cities
Scottsdale, Arizona • Jacksonville, Florida • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional Results available

CLUSTER Trial for Outbreak Detection and Response

NCT04053075
View directory record Official record
Conditions
Cluster Detection
Interventions
Routine cluster detection, Enhanced cluster detection
Other
Lead sponsor
Harvard Pilgrim Health Care
Other
Eligibility
Not listed
Enrollment
2,905,455 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
82
States / cities
Riverside, California • San Jose, California • Thousand Oaks, California + 64 more
Source: ClinicalTrials.gov public record
Updated Jan 16, 2025 · Synced Oct 24, 2026, 3:29 PM EDT
Enrolling by invitation Not applicable Interventional

Genetics of Differences of Sex Development and Hypospadias

NCT03102554
View directory record Official record
Conditions
Disorders of Sex Development, Hypospadias
Interventions
Return of Genetic Results
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 24, 2026, 3:29 PM EDT
Recruiting No phase listed Observational

Next Generation Sequencing of Normal Tissues Prospectively in Pediatric Oncology Patients

NCT02530658
View directory record Official record
Conditions
Solid, Liquid, Central Nervous System Tumors
Interventions
Study Introduction Visit, Informed Consent Visit, Informed Consent Follow-Up Visit, Return of Results Conversation, Return of Results Follow-Up Visits, Blood Sample, Skin Biopsy
Other · Procedure
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
Not listed
Enrollment
2,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2053
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 24, 2026, 3:29 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Newborn Genomic Sequencing Pilot Study

NCT06276348
View directory record Official record
Conditions
Genetic Disease
Interventions
Whole genome sequencing, BeginNGS test, WES
Genetic
Lead sponsor
Rady Pediatric Genomics & Systems Medicine Institute
Other
Eligibility
1 Day to 10 Days
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2024
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Nov 14, 2024 · Synced Oct 24, 2026, 3:29 PM EDT
Recruiting No phase listed Observational

Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)

NCT05354622
View directory record Official record
Conditions
Hereditary Spastic Paraplegia, Neurodegenerative Diseases, Pediatric Disorder, Spasticity, Muscle, Motor Neuron Disease, Movement Disorders
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
1 Month to 30 Years
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 18, 2026 · Synced Oct 24, 2026, 3:29 PM EDT