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Neonatologists' perspectives on genetic testing procedures

George Wilson

Genetic diseases are common in the neonatal intensive care unit and it has been proven that discovering or confirming these diagnoses has an influence on treatment. However, the availability and usage of genetic testing, particularly exome or genome sequencing, vary greatly amongst NICUs. As a result, we attempted to detect and quantify any variations in practice patterns linked to genetic testing in NICUs across the country. We created a survey that was sent to neonatologists through email. The poll asked about test availability and attractiveness, the procedure of obtaining tests in the NICU, and overall comfort with ordering and interpreting genetic testing. Demographic information on survey participants, as well as information about their NICU, was acquired. The poll was completed by 162 neonatologists from 40 states

and 112 different NICUs. Although virtually all (93.2 %) neonatologists rated discovering a genetic diagnosis for their patients as very important, genetic consults were only accessible in 78% of NICUs, and exome or genome sequencing was not provided on a regular basis (69% of NICUs).Although the majority of US neonatologists questioned believe that genetic studies are necessary for their patients, these tests are not always clinically available. More study regarding implementation difficulties is needed.

Publication d'évaluation par les pairs pour les associations, les sociétés et les universités pulsus-health-tech