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Genetic counselor may provide key link needed for diabetes intervention team
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ADA 70th Scientific Sessions
ORLANDO — Adding a genetic counselor to the pediatric diabetes team may help offer a more precise diagnosis of monogenic diabetes, improve counseling regarding prognosis and, in many instances, improve treatment, Pal R. Njolstad, MD, PhD, said here.
“I think many diabetes teams will gain from having a close contact with genetic experts or counselors,” Njolstad, of the department of clinical medicine at University of Bergen, Norway, said at a symposium that focused on complications of genetic causes of diabetes in youth. “Diagnosing monogenic diabetes can be difficult, as there are various different phenotypes.”
For example, the most common form of monogenic diabetes is Maturity Onset Diabetes of the Young, also known as MODY, may be inherited by children up to age 5 years. Patients with MODY are predominantly lean, white, rarely have diabetic ketoacidosis and lack markers of autoimmunity, such as islet cell autoantibodies, glutamic acid decarboxylase autoantibodies and high-risk human leukocyte antigen alleles associated with type 1 diabetes, said Njolstad, also of the department of pediatrics at Haukeland University Hospital in Norway.
“When working with the monogenic diabetes form, we have to think of all the possibilities, which may be more difficult than we think,” he said.
Njolstad said there are specific issues to consider when properly diagnosing monogenic diabetes, such as inheritance, common phenocopies and frequent, low penetrant mutants. He said genetic experts also need clinicians because expert knowledge in pediatric endocrinology and syndromology has become increasingly important.
“Since I am a genetic expert myself, I do not have a genetic counselor on my team, but we work in very close collaboration with the department of medical genetics; for example, regular meetings where we discuss patients,” he said.
For more information:
- Njolstad PR. Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team? Presented at: The American Diabetes Association 70th Scientific Sessions; June 25-29, 2010; Orlando.
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