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Mind the Gap

Does whole genome sequencing test all of a person’s genes?

No, whole genome sequencing delivers the sequence of base pairs in the genome, but scientists do not yet know the location or function of all human genes. In fact, an even smaller subset are understood well enough to provide clear medical guidance based on the sequence of those particular genes.

Are there differences in quality in providers of whole genome sequencing?

Yes, labs differ in a number of ways, Here are a few:

1. Methodology of sequencing

2. Genes they report

3. Method of interpretation of changes, or variants, in the genes they report

Should I order whole genome sequencing?

Whole genome sequencing, or a similar approach called whole exome sequencing, may be helpful to certain individuals. People with developmental problems that have not been diagnosed, for example, may benefit if a reason for their condition is identified.

A trend to offer WGS for healthy adults is emerging. People who have this testing should know some of the basics of DNA testing and realize there are both potential benefits and harms. Reviewing the content on may be helpful.

Are there other genetic tests I might want to consider that would not be included in whole genome sequencing?

Yes, more and more, scientists are learning about the many genetic factors that contribute to common diseases like diabetes, heart disease, hypertension, etc. New tests called polygenic risk scores are being developed with advanced computing capability.  Many of these tests will be proprietary and will need to be ordered separately from WGS.


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