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Pediatric Genomic Medicine Whole Genome Sequencing
Pediatric Genomic Medicine Whole Genome Sequencing

The Center began offering clinical whole genome sequencing (WGS) on a limited basis to Children’s Mercy patients in July 2015. We are one of the first laboratories in the world offering clinical WGS — most clinical labs run exome sequencing which represent approximately one percent of the coding exons in the genome. 

We implemented clinical genomes due to the uniformity of sequence coverage and there is greater potential for detecting exonic deletions. While the analysis will be largely bioinformatically restricted to the exome, there is potential for finding disease causing variants in non-coding regions which are not covered by exome sequencing.

Genetic counseling is currently required as part of the consenting process, as well as result disclosure, because families must choose whether to receive incidental findings in the report. There are plans for controlled expansion to patients without regular access to a genetic counselor in the near future.

WGS Facts

  • Sample type: EDTA blood
  • This is not StatSeq; turnaround time is less than 12 weeks.
  • Trio analysis (child and parents) is done whenever possible and greatly improves detection rate. 
  • One report will be issued for the patient. Parents will not receive a report.
  • Patient report will include disease-causing, likely disease-causing and variants of unknown significance in genes which could potentially be responsible for symptoms at the time of analysis. 
  • Disease-causing and likely disease-causing variants in the 56 genes recommended in the ACMGG incidental findings guidelines will be reported if requested. 

For more information about WGS, or to learn how to request a consultation and consent a patient, please contact (816) 701-4819 or email us.

 

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