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Genetic Diseases, InbornNCT03738098

NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

A study testing GUÍA in people with Genetic Diseases, Inborn and Genetic Predisposition to Disease, run by Icahn School of Medicine at Mount Sinai at 2 sites in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

The NYCKidSeq program will significantly advance the implementation of genomic medicine, particularly for children, young adults and their families in Harlem and the Bronx. The study will assess the clinical utility of genomic medicine in three broad areas of pediatric disorders, while engaging a range of providers… Read more about this study

Who is it for?
Ages Up to 21 years
What is being tested?
GUÍA
Could I receive a placebo?
No, everyone receives an active treatment
How many people
650 participants
Where
2 sitesUnited States
Study dates
30 Jan 2019to 28 Apr 2022
Phase
Interventional
Are there results?
None posted in the registry

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 21 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Who may be able to join

  • Infants, children and young adults up to and including 21 years of age; young adults (18-21) who are cognitively intact may participate in this study, but their parent(s) or legal guardian(s) must also agree to participate
  • English- or Spanish-speaking parent or legal guardian capable of providing informed consent, participating in surveys, and able to see GUIA;
  • Currently undiagnosed, likely genetic* cause of neurologic, immunologic, or cardiac disorders (*as determined by disorder-specific criteria in Section IIIc. and phenotype checklist Appendix w.)
  • Followed by a physician in the MS or EM systems;
  • Willing and able to return for each study visit (not moving out of the area within nine months)
  • If targeted gene panels and/or whole exome sequencing were previously done, results must have been returned at least three months before enrollment;
Show all 9Show fewer
  • If targeted gene panels and/or whole exome sequencing were previously done, results must have been negative, or identified only one variant in a potentially causative autosomal recessive gene, and
  • If the parents received genetic counseling about this child, themselves, or a family member, the last genetic counseling session must have been at least three months before enrollment (*if testing was within 6-months their recruitment will be held until they 3-months or after)
  • If patients have undergone karyotyping alone, we do not have to wait 3 months prior to inclusion.

Who cannot join

  • The referred child is currently participating in a different genetic sequencing study, that includes genetic counseling and/or return of results before the participant's ROR2 visit.
  • The referred child has a known or likely molecular genetic diagnosis for their neurologic, immunologic, or cardiac disorder.
  • The referred child has had a bone-marrow transplant.

Trial locations and contacts

2 sites in 1 country.

United States2 sites

  • Icahn School of Medicine at Mount Sinai

    New York, New York, 10029

  • Albert Einstein College of Medicine/Montefiore

    The Bronx, New York, 10461

Other trials in United States

About this study

The NYCKidSeq program will significantly advance the implementation of genomic medicine, particularly for children, young adults and their families in Harlem and the Bronx. The study will assess the clinical utility of genomic medicine in three broad areas of pediatric disorders, while engaging a range of providers and community advisors to overcome the well-documented barriers to inclusion of underserved and underrepresented populations in genomic research. The study will also include testing, analyzing, and implementing a novel communication tool, Genomic Understanding, Information and Awareness (GUÍA), to facilitate the return of genomic test results. The use of GUÍA will enhance the understanding of these genomic testing results by families, patients, and care providers at all levels of expertise, in two health systems. Healthcare system leadership will be engaged to provide insights into their readiness for genomic implementation. Overall, the NYCKidSeq program will inform the genomics and clinical communities about how to implement genomic medicine in a diverse population in a clinically useful, technologically savvy, culturally sensitive, and ethically sound manner.

Read the detailed description

NYCKidSeq is a research study using a randomized controlled trial (RCT) design to compare the use of GUÍA in a traditional genetic counseling return of results session to facilitate the return of genomic results compared to a traditional return of results counseling session. GUÍA will be an enhanced, personalized electronic version focused on helping patients understand their own genomic results. The researchers will also evaluate the clinical utility of whole genome sequencing (WGS) compared to targeted gene panels (TGP) in children with suspected genetic etiology of their neurologic disorders, primary immunodeficiencies, and cardiovascular disorders with the goal of detecting the mutated gene(s) responsible for their disorder.

1100 referred children Mount Sinai and Albert Einstein College of Medicine/Montefiore Hospital (Einstein/Montefiore) will be enrolled and randomized to either traditional genetic counseling (standard of care) or traditional genetic counseling plus GUÍA. The researchers will assess parents' perceived and subjective understanding of results as well as their adherence to follow-up recommendation (primary and secondary outcomes) through the use of parental surveys at three time points. The RCT will occur in the context of performing WGS and TGP for diagnostic purposes in 1,130 children.

Participants will have three study visits (Baseline, ROR1, and ROR2) over a nine-month period. At the baseline visit, families will receive pre-test counseling and will complete a survey. Blood will be collected from all study participants and from each biological parent (if available) to assist with interpretation of genomic results. Samples will undergo WGS and TGP. Approximately three months later, results will be returned and explained via one of the two study arms - traditional genetic counseling versus genetic counseling with GUÍA, and parents will be asked to complete the ROR1 survey. Six months later, they will be asked to complete the ROR2 survey. The length of a subject's participation will be a minimum of nine months to a maximum of 27 months, depending on the time of study entry; participation after the initial nine months will consist solely of chart and data review. Over the initial 9-month period the investigators are studying the experiences and understanding of parents of children who receive sequencing to help understand how best to implement genomic medicine in a diverse population.

GUÍA will be an enhanced, personalized electronic version of a flip chart, which is the type of tool most commonly used in routine genetic counseling. In the third year of the study, the study team anticipates to have the tool integrated into EPIC. There are no tools yet focused on this complex information, specifically on helping patients understand their own genomic results.

Being tested
Standard of Care, GUÍA
Keywords
Whole Genome Sequencing, Genetic Counseling, Hereditary Childhood Disease, Genomic Medicine
Medical subject headings
Genetic Diseases, Inborn, Genetic Predisposition to Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Standard of CareBehavioural

    Also called Traditional Genetic Counseling

    Participants will receive traditional genetic counseling (GC) for the Baseline and Return of Results (ROR1) visits.

  • GUÍABehavioural

    Also called Communication Tool, Genomic Understanding, Information and Awareness

    GUÍA for the ROR1 visit.

Study groups in NCT03738098
Study groupRoleWhat they receive
Traditional Genetic CounselingActive comparatorStandard of care genetic counseling session
Receives: Behavioral: Standard of Care
GUÍAExperimentalStandard of care genetic counseling session with Genomic Understanding, Information and Awareness (GUÍA).
Receives: Behavioral: Standard of Care; Behavioral: GUÍA

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Perceived understanding of genomic testing results

    Perceived understanding of genomic testing results. Scale from 1 (very little or none of it) to 5 (understood almost all or all of it) at 3 months

    Measured: 3 months

  2. Perceived understanding of genomic testing results

    Perceived understanding of genomic testing results. Scale from 1 (very little or none of it) to 5 (understood almost all or all of it) at 3 months

    Measured: 9 months

  3. Perceived confidence explaining genomic testing results

    Perceived confidence explaining child's genetic test results. Scale from 1 (completely confident) to 5 (not confident at all) at 3 months

    Measured: 3 months

  4. Perceived confidence explaining genomic testing results

    Perceived confidence explaining child's genetic test results. Scale from 1 (completely confident) to 5 (not confident at all) at 9 months

    Measured: 9 months

Secondary outcomes (7)

  1. Objective understanding of genomic testing results

    Participants will answer yes, no, or not sure/don't remember at 3 months

    Measured: 3 months

  2. Objective understanding of genomic testing results

    Participants will answer yes, no, or not sure/don't remember at 9 months

    Measured: 9 months

  3. Understanding of recommended medical follow up and actionability of genomic results

    Participants will answer yes, no, or I don't know/don't remember/unsure

    Measured: 3 months

  4. Adherence to medical follow up recommendations

    Participants will answer yes, not yet but plan to; or no, and don't plan to; or don't know

    Measured: 9 months

  5. Percent of participants with definitive or likely positive diagnoses

    Diagnostic results assessed by percent of participants with definitive or likely positive diagnoses

    Measured: up to 27 months

  6. Time to diagnosis of WGS and TGP

    Time to diagnosis comparison of WGS and TGP

    Measured: up to 27 months

  7. Concordance of WGS and TGP results

    Percent of agreement between WGS and TGP testing results

    Measured: up to 27 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted13 Nov 2018
  2. Study start30 Jan 2019
  3. Primary completion28 Apr 2022
  4. Study completion28 Apr 2022

Resources

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
Randomised
Intervention model
Parallel groups
Model description
The overall design is a Randomized Controlled Trial (RCT), evaluating the use of GUÍA to facilitate the return of WGS genomic results and comparing it to return of results using routine genetic counseling. The RCT will occur in the context of the performing WGS and TGP for diagnostic purposes in 1,130 children in an effort to assess clinical utility. Children and young adults with specific disorders will be recruited from MS and EM. In the Traditional GC group, participants will receive traditional genetic counseling for the Baseline and Return of Results (ROR1) visits. In the GUÍA group, they will receive traditional GC for the Baseline visit, and traditional GC plus GUÍA for the ROR1 visit (see arm descriptions below). Based on the subjects' randomization, they will be scheduled to see a specific genetic counselor, as the genetic counselors will be assigned to a specific arm and will remain in that arm for the duration of the study.
Masking
None (open label)
Enrolment
650 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03738098
Sponsor's protocol ID
GCO 16-1731
Other IDs
U01HG009610
Status last verified
Dec 2023
First submitted
8 Nov 2018
Last updated
13 Dec 2023
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Suckiel SA, Kelly NR, Odgis JA, Gallagher KM, Sebastin M, Bonini KE, Marathe PN, Brown K, Di Biase M, Ramos MA, Rodriguez JE, Scarimbolo L, Insel BJ, Ferar KDM, Zinberg RE, Diaz GA, Greally JM, Abul-Husn NS, Bauman LJ, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic results disclosure in diverse families. Am J Hum Genet. 2023 Dec 7;110(12):2029-2041. doi: 10.1016/j.ajhg.2023.10.016. Epub 2023 Nov 24.

    PubMed 38006881

  • Abul-Husn NS, Marathe PN, Kelly NR, Bonini KE, Sebastin M, Odgis JA, Abhyankar A, Brown K, Di Biase M, Gallagher KM, Guha S, Ioele N, Okur V, Ramos MA, Rodriguez JE, Rehman AU, Thomas-Wilson A, Edelmann L, Zinberg RE, Diaz GA, Greally JM, Jobanputra V, Suckiel SA, Horowitz CR, Wasserstein MP, Kenny EE, Gelb BD. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genet Med. 2023 Sep;25(9):100880. doi: 10.1016/j.gim.2023.100880. Epub 2023 May 6.

    PubMed 37158195

  • Suckiel SA, Kelly NR, Odgis JA, Gallagher KM, Sebastin M, Bonini KE, Marathe PN, Brown K, Di Biase M, Ramos MA, Rodriguez JE, Scarimbolo L, Insel BJ, Ferar KDM, Zinberg RE, Diaz GA, Greally JM, Abul-Husn NS, Bauman LJ, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic counseling in racially and ethnically diverse families. medRxiv [Preprint]. 2023 Jul 7:2023.07.05.23292193. doi: 10.1101/2023.07.05.23292193.

    PubMed 37461450

  • Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children. Trials. 2021 Jan 14;22(1):56. doi: 10.1186/s13063-020-04953-4.

    PubMed 33446240

Questions about this trial

What is this clinical trial studying?

A study testing GUÍA in people with Genetic Diseases, Inborn and Genetic Predisposition to Disease, run by Icahn School of Medicine at Mount Sinai at 2 sites 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 9 inclusion and 3 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: finished, as of the sponsor's last update on 13 Dec 2023. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

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?

Perceived understanding of genomic testing results (time frame: 3 months). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03738098, which also lists 4 linked publications.

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 13 Dec 2023.

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