Bringing cutting-edge genetic testing to help diagnose health problems in children from diverse NYC families
NYCKidSeq is the first large clinical trial in order to understand how genomic testing is communicated in healthcare. NYCKidSeq is a new research study exploring whether a type of genetic testing, called “genome sequencing,” provides more useful results than traditional genetic testing used in clinics in finding the genetic cause of health problems in children from all five boroughs of NYC. We are working to make genome sequencing for children and young adults more accessible, useful, and easier for families to understand.
NYCKidSeq is a multi-institutional program (Mount Sinai, Einstein Montefiore, and the New York Genome Center) and one of the newest members of the CSER Consortium.
Who are we recruiting?
In NYCKidSeq, we will be recruiting 1,130 children and young adults from Harlem and the Bronx with a suspected genetic cause for neurologic, cardiovascular, and primary immunodeficiencies disorders. These participants are English or Spanish speaking, receive their health care at Mount Sinai or Einstein Montefiore medical center, and have not had genomic testing or genetic counseling in the past 6 months.
Every eligible participant receives whole genome sequencing and targeted gene panel testing at no cost.
How are we recruiting families?
The NYCKidSeq team is contacting eligible families referred by our study providers. These families are introduced to the study by their provider during a visit or over the phone. Once these families express interest, a research coordinator follows up to provide more details about NYCKidSeq and schedule them to come for their first study visit.
Our research coordinators are also present during clinic hours to provide brochures and explain in more detail to families what NYCKidSeq is and how it can benefit their child.
We are redefining the way genomic genomic information is communicated through novel software applications that promote efficient and user-friendly communication of genomic results between clinicians, laboratory personnel, genetic counselors and families.
GUÍA: Speaking genomics with patients
• How are we communicating genomic test results to patients?
• Interactive, bi-lingual, visual tool for medical professionals and patients
• Large clinical trial over next 22 months to learn how GUÍA will improve clinical care
GenomeDiver: Speaking genomics with clinicians
• How are we engaging and educating medical professionals?
• Interactive, AI-augmented tools to interpret and interact with genomic test results
• Study of medical professionals at multiple health systems in NYC to learn how GenomeDiver can facilitate genome guided medicine