New international guideline advances genetic testing for childhood short stature - Children's National

An international team of experts has published a new consensus guideline on genetic testing in children with short stature, providing an important resource for clinicians worldwide.

The guideline, published in the European Journal of Endocrinology, is the first of its kind and has received formal endorsement from several leading professional organizations, including the European Society of Pediatric Endocrinology (ESPE), Pediatric Endocrine Society (PES), Latin American Society of Pediatric Endocrinology (SLEP), Chinese Society of Pediatric Endocrinology and Metabolism (CSPEM), Japanese Society for Pediatric Endocrinology (JSPE), European Society of Human Genetics (ESHG), Japan Society of Human Genetics and Human Genetics Society of Australasia.

"Over the last decade, there have been tremendous advances in our understanding of the genetic factors that influence growth and stature," said Andrew Dauber, MD, MMSc, chief of Endocrinology at Children's National Hospital and lead author. "Many studies have shown that children with significant short stature frequently have undiagnosed genetic conditions."

The big picture

The guideline was initiated and sponsored by the Clinical Practice Committee of the ESPE. A steering committee developed the guideline framework and invited experts to participate in the International Growth Genetics Guideline Consortium (IGGGC). The consortium includes pediatric endocrinologists, medical geneticists, clinical laboratory geneticists and a clinical epidemiologist/endocrinologist.

Two IGGGC subcommittees conducted a systematic review and literature search addressing two key clinical questions:

• What is the diagnostic yield of genetic testing in children or adolescents with short stature in a non-selected population of short children or in populations selected for an additional clinical feature?
• Will genetic testing in short stature improve the outcomes of individual patients?

Based on the available evidence, the authors developed consensus recommendations and diagnostic algorithms tailored to specific clinical presentation.

Children's National leads the way

Dr. Dauber's leadership has been central to this international effort. Researchers at Children's National played a significant role in creating some of the evidence upon which this guideline was based. The Growth Disorders Program has been using this approach in clinical practice and is on the leading edge of delivering precision medicine for genetic growth disorders.

"We hope that genetic testing will become a more routine part of the evaluation of children with short stature," said Dr. Dauber. "This will open up opportunities for precision medicine in the future."

Read the full guideline, International guideline on genetic testing of children with short stature, in the European Journal of Endocrinology.

Additional authors from Children's National include: Youn Hee Jee, MD.