Genomic sequencing

Children’s Wisconsin offers the first fully clinically integrated Genomic Medicine Program in the U.S. The Genomic Medicine Program includes:

• Comprehensive patient services such as initial evaluation, pretest counseling, sequencing and analytics, financial counseling, return of results, case management and research
• Both whole genome sequencing and whole exome sequencing, which are available through our laboratory as College of American Pathologists-certified tests

Clinical outcomes for our program include:

• 44 percent of referred cases were recommended for whole genome sequencing
• 88 percent of recommended cases had whole genome sequencing completed
• 36 percent of whole genome sequencing led to a diagnosis

While not every case requires whole genome sequencing, it is emerging as a useful tool. The cost is now about the same as a handful of individual gene tests. As the costs continue to drop, use of whole genome sequencing will become even more appealing.

Evaluating on a gene-by-gene basis is expensive, while whole genome sequencing is a single process. Data is starting to demonstrate that sequencing just some genes is not immediately sufficient in all cases. In the next decade, whole genome sequencing will radically transform health care.

How we use whole genome sequencing

Whole genome sequencing is available to all patients but may not be necessary if the team recognizes an unusual case of a known disease with a specific diagnostic test.

Genetic sequencing can be invaluable in evaluating patients with undiagnosed diseases and has tremendously increased our diagnostic success. The patients we have seen with undiagnosed diseases have been extensively evaluated by multiple specialists including chromosome analysis, microarray testing and specific candidate gene sequencing, none of which led to a diagnosis. Searching for individual candidate genes one at a time may not reveal the cause of the disease.

If the patient remains undiagnosed and genetic sequencing does not immediately reveal a likely diagnosis, the sequencing data and available literature will be reviewed annually to continue the search for a possible diagnosis.

Learn more about our Genetics/Genomics Program