The CHOP PediSeq Project

The Pediatric Clinical Sequencing Project

Benefits, Limitations, and Risks of WES

What are the benefits, limitations and risks of whole genome and whole exome sequencing?

Benefits of whole genome and whole exome sequencing include:

  • Possibly identifying a gene mutation responsible for a person’s condition. This might provide:
  • A diagnosis for the person tested
  • Information allowing for better management or treatment of the person’s condition
  • Information about risks to other family members and the ability to test at-risk family members for the disorder
  • Possibly identifying other genetic variants that are associated with an increased risk of other unrelated medical conditions or differences in response to medications. Such knowledge might lead to improved screening, or to recommendations to reduce the risk of developing a medical condition.

Limitations of whole genome and whole exome sequencing include:

  • A normal result does not rule out the possibility of a genetic cause for the disease. These tests cannot identify certain types of mutations and may miss certain genes or sections of your exome or genome due to limitations in current testing technology.
  • Sequencing may give results that are not clear or that cannot be easily interpreted based on current scientific knowledge, such as variants of uncertain significance.
  • Finding a genetic mutation may not lead to improved or changed medical care or treatment.
  • Finding a genetic mutation cannot always predict characteristics of a disease such as age of onset or severity of symptoms.

Risks of whole genome and whole exome sequencing include:

  • Sequencing may yield results that are unexpected or upsetting and may cause one to feel anxious or depressed.
  • Undergoing genetic testing introduces the possible risk of genetic discrimination and stigmatization. The Genetic Information Nondiscrimination Act (GINA) is a federal law that provides significant protection against genetic discrimination in employment and certain types of health insurance. This law does not apply to companies that sell life insurance, disability insurance, or long-term care insurance. For more information, visit
  • If samples of blood from the patient’s parents are used to help interpret their child’s sequencing results, there is a possibility this testing might reveal that one of the parents is not the child’s biological parent.



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