This hort explanation card defines carrier status for recessive genetic conditions.

This short explanation card defines carrier status for X-linked recessive conditions.

This short explanation card defines an inherited mutation and describes the information that parents might find on their child's inherited mutation report.

This short explanation card defines a tumor mutation and describes what parents of pediatric patients can expect from a tumor mutation report.

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

This consent/ assent form for adults, adolescents, and parents of minors in the Personalized Medicine Based on Molecular Profiling of Patients with Cancer study includes consent to the use of tumor cells to create cell lines, consent to additional analysis of the sequencing data for research purposes, and "right not to know" provisions for results that may have significance for biological family members and results that may have potential medical impact.

This consent form for adult patients or parents of minor patients (with child assent) includes standard consent language and the ability for participants to “opt out” of learning about genome sequencing results, unless a result is of urgent importance to their health.

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.

The CSER Information Seeking Measure (two versions) is a single-item measure that assesses the sources of information that patients think they will be likely to use to obtain further information about their genetic test results. The measure should be administered post-return of results.

The Follow Through on Medical Actions Attributable to Genomic Testing Survey, developed by the Clinical Utility, Health Economics, and Policy (CUHEP) working group, measures whether parents of pediatric patients took actions (such as sharing the results with healthcare providers) after receiving positive or negative findings on their child's genetic test.