Genetic sequencing appears key to personalized medicine in pediatrics

QUEBEC CITY — Modern genomics in the form of next-generation sequencing and exome sequencing will be commonplace in the Canadian pediatric endocrine clinic in the near future, according to presenter Kym Boycott, PhD, MD, FRCPC, FCCMG.

Perspective from Constantin Polychronakos, MD

“[Next-generation sequencing] in the form of panel genes will be available first for analysis of genetically heterogeneous conditions like MODY (maturity-onset diabetes of the young) and neonatal diabetes,” Boycott, who is a clinician investigator at the Children’s Hospital of Eastern Ontario and associate professor in the department of pediatrics at the University of Ottawa, told Endocrine Today. “Within the next 5 years, we expect exome sequencing, which facilitates the analysis of all human genes to come to the clinic to help diagnose rare, pediatric endocrine disorders, as well as facilitate novel gene discovery.”

Kym Boycott

The use of genomic technologies might indicate a different therapy for several rare, pediatric endocrine conditions than would a standard management approach, Boycott said.

“It’s about personalized medicine for pediatric endocrine patients, and choosing the best medication based on the genetic underpinnings of the disease. Looking at conditions like MODY and neonatal diabetes, if you have a particular molecular subtype, you would respond differently to different therapies,” she said.

In addition, genetic identification may offer information about the possibility of recurrence in a family.

Preliminary data suggest that using next-generation sequencing is a more efficient process than the diagnostic odyssey, Boycott said.

“Testing one gene at a time is laborious and costly, while testing all the patient’s genes at one time is more cost effective,” she said.

For more information:

Boycott K. Genomic technologies to advance clinical care in the pediatric endocrine clinic. Presented at: Canadian Pediatric Endocrine Group 2013 Scientific Meeting; Jan. 24-26, 2013; Quebec City.

Disclosure: Boycott reports no relevant financial disclosures.

Perspective

Constantin Polychronakos, MD

Conditions like MODY can be severe enough in presentation to be misdiagnosed as type 1 diabetes and mistakenly treated with insulin therapy. The application of next-generation sequencing will avoid such a scenario.

Constantin Polychronakos, MD

Professor in the Departments of Pediatrics and Human Genetics and director of the Division of Endocrinology at McGill University Health Centre (Children's Hospital), Montreal, Canada

Disclosures: Polychronakos reports no relevant financial disclosures.