This form is for physicians to record demographic and clinical information about a patient to facilitate laboratory interpretation of whole exome sequencing results. It also records family history of cancer and physician choice about receipt of carrier status information for autosomal recessive conditions.

This assent form from the NCGENES: A Next-Generation Sequencing Platform for Genetic Diagnosis study is designed for the 7 - 14 year old relatives of NCGENES study participants with a genetic test result containing a variant of uncertain significance (VUS). This assent is for the relative to be tested for the VUS previously identified in the NCGENES study participant, not enrollment in the full NCGENES study.

This informed consent document for parents and minors in the Genomic Diagnosis in Children with Developmental Delay study includes standard consent language plus consent to storage of specimens for future use, to be contacted about new research studies, and to share genetic and health information in the dbGaP database.

The purpose of PediSeq: The Pediatric Genetic Sequencing Project was to identify best practices for educating patients about exome and genome sequencing, determining the sequencing data relevent to patients, and returning results. This informed consent form and HIPAA authorization is appropriate for use with parents of study participants and children capable to providing assent. It contains consent to future analyses of test results, use of data or specimens for future research, future contact, and photgraphs, in addition to consent to study participation.