CSER: Incorporating Genomics into the Clinical Care of Diverse NYC Children (NYCKidSeq)

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.]]>
Inclusion Criteria 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 protocol and phenotype checklist) 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 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. Exclusion Criteria 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. ]]>
January 2019: Start of lead-in phase recruitmentApril 2019: Start of randomized controlled (RCT) trial recruitmentJune 2019: First lead-in phase return of results visitAugust 2019: First RCT return of results visitJanuary 2020: First parental return of results survey 2March 2020: Pause of in-person study visits due to COVID-19April 2020: First telehealth return of results visit August 2020: Re-start of in-person enrollments with COVID-19 precautionsNovember 2020: End of NYCKidSeq enrollments]]>