Stories about: genetic counseling

Rare disease parents have mixed feelings about genetic research results

parents react to their kids' genetic test results

Enrolling in a prospective study or clinical trial doesn’t always mean you’ll walk away with answers.  But trials that sequence a patient’s genome can provide personalized results — and more and more such trials are doing so.

But how do people feel after getting this information?  A new study examined the reactions of parents upon receiving genetic test results for their children with rare diseases.

Read more about this rare disease study on Vector.

Families’ experiences with the diagnostic odyssey

Diagnostic_odyssey_Vector_Robert-Salmon-storm-at-sea-Wikimedia-Commons_260x260Diagnosing the cause of a child’s developmental difficulties or delays can take months or even years. The process can take a toll on both children and their families as they struggle to find out what is wrong.

Genetic counselor and parent Nikkola Carmichael, MS, CGC, recently published the results of her work documenting the diagnostic odysseys of ten mothers of children with neuromuscular disorders. “The results,” she writes on Boston Children’s Hospital’s Vector, “highlight the distress…even minor medical procedures [can cause] and the benefits to the family of obtaining a diagnosis.”

Learn about her study’s implications for health care providers on Vector.

 

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