The CHOP PediSeq Project

The Pediatric Clinical Sequencing Project

Introduction to Genetic Sequencing

Some people may have had genetic testing done in the past to look for the cause of a specific health problem or condition. That testing may have looked for changes in one or in several genes at one time. Two newer kinds of tests, called whole genome sequencing and whole exome sequencing, look at thousands of genes at one time to find changes or variants in a person’s genetic material. Sometimes, a variant will be found that explains why a person has that condition. Other times, it is not certain whether or not the variant is the cause of the condition. Additional variants may also be found. Most of them will be harmless, but some can cause or predispose people to develop health problems or disease. These results are called “incidental findings.”

Whole genome and whole exome sequencing can be complicated. Sometimes, the results of testing are difficult to interpret. In addition, unlike other kinds of medical tests, the results of genetic testing, including whole genome or whole exome sequencing, may have implications for relatives of the person tested. The information on this website is aimed at helping patients and family members understand some basic genetic concepts, what procedures are involved in whole genome sequencing and whole exome sequencing, what kind of results are available from testing, and the risks, benefits and limitations of testing.


This website should answer many of your questions. You can also direct questions to your physician, your genetic counselor or another health care provider.




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