This article is more than 5 years old. Information may no longer be current.

Few PCPs refer children with suspected GDD for genetic testing

When a pediatric or family physician sees a patient with suspected global developmental delay, they often referred the patient to a developmental pediatrician or developmental intervention program, rather than to a genetic specialist, according to recently published data.

“We found that when presented with a clinical vignette of a child with [global developmental delay], for their initial evaluation step most pediatric PCPs would not do testing, genetic or otherwise, and would instead refer the child. … Contrary to concerns that PCPs may be ordering genetic tests without proper training, very few PCPs would order a genetic test,” the researchers wrote.

Researchers conducted a survey of pediatricians and family physicians (n = 448) to assess diagnostic decisions of pediatric PCPs regarding children with suspected global developmental delays (GDD). 

Results demonstrated that 74% of participants presented with a patient with suspected GDD would refer the patient without testing as their first step in a diagnostic evaluation. Twenty-two percent reported that they would only test the child, and 4% would both refer and test the patient.

Among PCPs who would refer patients, 58% would refer to a developmental pediatrician, while only 5% would refer to a geneticist.

A general biochemical test was the most commonly ordered test (64%), and a karyotype was the most commonly ordered genetic test (39%).

“Our study clarifies that, when evaluating a child with [global developmental delay], few PCPs would order genetic testing or refer to a genetic specialist as a first step in their evaluation. Whether or not this means that a child with [global developmental delay] would ultimately receive a genetic evaluation is unclear. … However, given their elevated risk of having a genetic condition, the extent to which children with [global developmental delay] undergo an appropriate genetic evaluation, regardless of the context, is an important area for future exploration,” the researchers concluded. – by Casey Hower

Disclosures: The researchers report no relevant financial disclosures.