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theses

Expanded carrier screening (ECS) is used to determine risk for couples to have a child with an autosomal recessive (AR) or X-linked recessive (XLR) condition prior to or during pregnancy. ECS has increased in popularity over the past several years, and multiple studies have evaluated its ability to capture carrier couple status and the impact of this information on reproductive decision making1; 2. ECS panels have also been growing in size with the largest currently available panel including 526 genes. Our study aimed to determine what percentage of probands, in a typical medical genetics practice, diagnosed with an AR or XLR condition could have been predicted if the parents had a large ECS panel. By anticipating the diagnosis in advance, we demonstrated how many years of the diagnosis odyssey and unnecessary genetic tests could have been avoided. Lastly, in this patient population, we assessed how many of these patients did not have a family history of the diagnosis ultimately established in the proband.

We determined that 8% of patients seen in our Division of Medical Genetics had an AR or XLR diagnoses established. In this patient population, 61% of these diagnoses could have been predicted, in advance, if the parent(s) had expanded carrier screening. Ascertainment of reproductive risk could have led to reproductive options to prevent having a child with the diagnosis. In children born with the condition, knowing that they were at risk could have led to earlier diagnosis, implementation of earlier intervention(s), reduced parental stress while navigating the diagnostic odyssey and unnecessary testing.

ETD_11640

M.S.

Includes bibliographical references

ETD doctoral

doi:10.7282/t3-pzhj-vh75

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