The CHOP PediSeq Project

The Pediatric Clinical Sequencing Project

About PediSeq

Many childhood health problems or diseases are genetic. Our genes are pieces of information that we inherit from our parents that tell our body how to grow and develop. Genetic testing looks at our genes to try to help determine what is causing a person’s symptoms or disease.

The purpose of this research study is to learn more about newer types of genetic testing called Whole Exome Sequencing and Whole Genome Sequencing. Current genetic testing usually examines one gene or a few genes at a time. Exome and genome sequencing allow us to test most of a person’s genes at one time with a single test. This testing might identify the reason for a person’s unexplained condition or diagnosis.

We hope this study will help us identify the best methods for:

·         Educating patients and families about exome and genome sequencing

·         Analyzing exome and genome sequencing data to identify results relevant to patients

·         Giving results to families in a clear, appropriate, and informative manner

The PediSeq study is one of several Clinical Sequencing Exploratory Research program projects funded by the National Human Genome Research Institute (NHGRI). We are enrolling families who are seen at CHOP for a possible underlying genetic condition. We will perform exome or genome sequencing in order to try to identify the cause of the condition in the family.

For more information about the PediSeq study, please consult our study brochure. Enrollment questions may be directed to the PediSeq Study Coordinator.





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