About TeleKidSeq:

NYC has one of the most diverse populations in the US. Unfortunately, NYC children often suffer from more illnesses than other children, lack access to high quality care, and do not always benefit from the latest scientific advances.

Fortunately, TeleKidSeq is a member of the Clinical Sequencing Evidence-based Research (CSER) Consortium, a group of programs funded by the National Institutes of Health making genomics more accessible and useful for children, their families, and their health care providers. We will do so by giving children and doctors access to whole genome sequencing so they can use it as part of their health care. Our team includes experts from the Icahn School of Medicine at Mount Sinai and Mount Sinai Health System, Albert Einstein College of Medicine, Montefiore Medical Center, and the New York Genome Center (a genetic testing center).

We will perform genome sequencing for diagnostic purposes in about 500 children from ancestrally and socioeconomically diverse backgrounds with undiagnosed neurologic, cardiac, or immune disorders. We will evaluate the impact of incorporating genome sequencing into children’s medical care on families and healthcare systems. We will compare the diagnostic accuracy of genome sequencing to that of targeted gene panels.

This work will inform genomics and clinical communities about how to implement genomic medicine in diverse populations in a clinically useful, technologically savvy, culturally sensitive, and ethically sound manner.

 What is TeleKidSeq doing to improve my practice and my patients’ understanding of genomics?

We are developing and piloting tools to help facilitate communication between providers and our genomic testing laboratory. We are hoping these tools will help improve the number of patients we can diagnose through whole-genome sequencing, and to improve understanding of genomic test results to patients and their families.

GUÍA, a novel Communication Tool: GUÍA is an enhanced, personalized electronic version of a flip chart, which is the type of tool most commonly used in routine genetic counseling. This tool will be used by genetic counselors to facilitate the delivery of genomic results and enhance patients, families, and clinicians understanding of these results. GUÍA is a primary focus of our research; we will compare parental understanding of and satisfaction with receiving genetic test results for their child among those who randomized to the tool versus those randomized to standard care.

ClinicalTrials.gov: NYCKidSeq: Incorporating Genomics into Clinical Care of Diverse NYC Children