NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children

Completed · Not applicable

Conditions studied: Genetic Diseases, Inborn, Genetic Predisposition to Disease

In brief

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.

Key facts

Study ID

NCT03738098

Run by

Icahn School of Medicine at Mount Sinai

People needed

650

Starts

2019-01-30

Expected to finish

2022-04-28

Last updated by the study team

2023-12-13

Who can join

Age: any, up to 21. Sex: any. Healthy volunteers: not accepted.

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)
• If patients have undergone karyotyping alone, we do not have to wait 3 months prior to inclusion.

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.

Where it is running

• Icahn School of Medicine at Mount Sinai — New York, New York, United States
• Albert Einstein College of Medicine/Montefiore — The Bronx, New York, United States

Full record on ClinicalTrials.gov

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