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Courtney Kiersten Pollard, Emily A McCourt, Kelsey Zegar; Barriers to Genetic Testing in Pediatric Retinis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):1779. doi: https://doi.org/.
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<br /> Retinitis Pigmentosa is a complex disease with dominant, X-linked, mitochondrial,<br /> and polygenic causes. Genetic testing of pediatric RP patients is important because it provides data to further therapeutic development, allows parents to make future family planning decisions, directs testing of asymptomatic siblings, may define a syndromic cause, and can help predict rate of severe vision loss. Children can be offered genetic testing in order to categorize their disease, predict visual outcomes, and identify groups of patients who may benefit from future genetic therapies. Despite the benefits, many patients do not undergo genetic testing. This study was designed to elucidate the reasons why testing does not occur.
<br /> Patients with a diagnosis of retinal dystrophy were identified by ICD-9 diagnosis codes in the electronic medical record of Children's Hospital Colorado (CHC). 214 pediatric patients seen in the last 15 years with a diagnosis of retinal dystrophy were identified. Exam notes, telephone encounter documentation and letters to the families were reviewed. Of the identified 66 pediatric RP patients, 28 did not undergo genetic testing. Reasons for not pursuing genetic testing were coded and summed to determine the most common barriers to testing. Reasons included: cost of test, loss to follow up, parental refusal, enrollment in a study that did not use the patients blood sample, no testing offered to the family, or the patient had multiple genetic diseases and the family chose to pursue non-RP genetic testing.
<br /> The most common barriers to genetic testing in the pediatric RP population at CHC were: patient lost to follow up (32.18%), inability of the family to afford the cost of the test (17.86%), and testing not documented as offered to the family (14.29%).
<br /> The most common reason patients do not pursue genetic testing in the pediatric RP population at CHC is that they are lost to follow up. Given that CHC is a large tertiary referral center to which patients travel many miles for care, this finding is not surprising and is likely relatable to other large centers. However it is important because understanding the reasons patients are not tested can guide providers to develop protocols and systems to reach out to families to aid genetic characterization of individual RP disease types and to increase the pool of data for genetic research about RP.
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