NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

NCT03738098 | Completed

• 2 other identifiers: GCO 16-1731U01HG009610
• Study Type: interventional
• Target: 650
• Locations: 1 country
• Sites: 2

Brief 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 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.

Conditions

Genetic Diseases, Inborn; Genetic Predisposition to Disease

Keywords

Whole Genome Sequencing; Genetic Counseling; Hereditary Childhood Disease; Genomic Medicine

Outcome Measures

Primary Outcomes (4)

• 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

  3 months

• 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

  9 months

• 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

  3 months

• 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

  9 months

Secondary Outcomes (7)

• Objective understanding of genomic testing results

  3 months

• Objective understanding of genomic testing results

  9 months

• Understanding of recommended medical follow up and actionability of genomic results

  3 months

• Adherence to medical follow up recommendations

  9 months

• Percent of participants with definitive or likely positive diagnoses

  up to 27 months

Study Arms (2)

Traditional Genetic Counseling

ACTIVE COMPARATOR

Standard of care genetic counseling session

Behavioral: Standard of Care

GUÍA

EXPERIMENTAL

Standard of care genetic counseling session with Genomic Understanding, Information and Awareness (GUÍA).

Behavioral: Standard of Care; Behavioral: GUÍA

Interventions

Standard of Care BEHAVIORAL

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

Also known as: Traditional Genetic Counseling

GUÍA; Traditional Genetic Counseling

GUÍA BEHAVIORAL

GUÍA for the ROR1 visit.

Also known as: Communication Tool, Genomic Understanding, Information and Awareness

GUÍA

Eligibility Criteria

• Age: Up to 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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;
• 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead
• Albert Einstein College of Medicine: collaborator
• New York Genome Center: collaborator
• National Human Genome Research Institute (NHGRI): collaborator
• National Institute on Minority Health and Health Disparities (NIMHD): collaborator

Study Sites (2)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

Albert Einstein College of Medicine/Montefiore

The Bronx, New York, 10461, United States

Location

Related Publications (4)

• 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.

  PMID: 38006881 RESULT

• 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.

  PMID: 37158195 RESULT

• 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.

  PMID: 37461450 DERIVED

• 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.

  PMID: 33446240 DERIVED

Related Links

• Clinical Sequencing Evidence-Generating Research (CSER) Website

MeSH Terms

Conditions

Genetic Diseases, Inborn; Genetic Predisposition to Disease

Interventions

Standard of Care

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Quality Indicators, Health Care; Quality of Health Care; Health Services Administration; Health Care Quality, Access, and Evaluation

Study Officials

• Eimear Kenny, PhD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Melissa Wasserstein, MD

  Albert Einstein College of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Model Details: 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.

Study Record Dates

• First Submitted: November 8, 2018
• First Posted: November 13, 2018
• Study Start: January 30, 2019
• Primary Completion: April 28, 2022
• Study Completion: April 28, 2022
• Last Updated: December 13, 2023

Record last verified: 2023-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)