Overview

This role involves the ability to provide genetic counseling and coordinate genomic care for critically ill newborns admitted to the Riley Children’s Hospital Level IV NICU. This would include a need to obtain detailed medical and family history information, as well as collecting and organizing phenotypic data, to screen patients as part of a genetic assessment and evaluation. Responsibilities would extend to the coordination, tracking and return of genetic test results to clinical teams involved in the care of these patients as well as their families. Knowledge and comfort with using a REDCap database is essential to track outcomes of genetic evaluations, as involvement in clinical research studies to better understand neonatal genetic conditions is integral to this role. Successful applicants will have a strong interest in innovative approaches to genomics for critically ill newborns, will complete appropriate research training, and have an ability to work with a multidisciplinary care team which includes those with and without formal training in clinical genetics. May teach or oversee genetic counseling students and/or other medical learners.

Provides genetic counseling and testing for patients and families including identifying, ordering and coordinating genetic laboratory tests, and other diagnostic studies, as appropriate for the genetic assessment. Integrates genetic laboratory test results and other diagnostic studies with personal and family medical history to assess and communicate genetic risk factors and clinical implications. Educates health professionals, patients and families about genetic diseases and hereditary disorders, treatment options, risk factors and any available community resources. Refers patients to specialists when necessary. May teach or oversee genetic counseling students.