title: Putting the Pieces Together: Clinically Relevant Genetic and Genomic Resources for Hospitalists and Neonatologists.
abstract: Genetic conditions are individually rare but are common in aggregate, and they often present in the neonatal and early pediatric periods. These conditions are often severe, can be difficult to diagnose and manage, and may heavily affect patients, families, health care systems, and society. Because of recent technological advances, the availability and uptake of genetic and genomic testing are increasing rapidly. However, there is a dearth of trained geneticists and genetic counselors to help guide and explain these conditions and relevant tests. To help hospitalists, neonatologists, and related practitioners navigate this complex and evolving field, we have compiled a list of free (mostly Web-based) resources relevant to the diagnosis and management of genetic conditions and related disorders. These resources, which we describe individually, can be useful for nongeneticist clinicians, and some also include material that can be used to explain concepts and conditions to patients or families. The resources presented are divided into the following categories (which overlap): general information, databases of genetic conditions, resources that can help generate differential diagnoses, databases of genetic testing laboratories (to help with logistics of ordering tests), information on newborn screening, and other resources. We also include a separate list of helpful textbooks and manuals. We conclude with 2 examples describing how some of these resources would be used by a pediatric hospitalist or neonatologist during the inpatient management of a child with a suspected genetic condition.
authors.affiliation: Inova Translational Medicine Institute and.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Miller
authors.affiliation: Inova Translational Medicine Institute and.
authors.forename: Alina
authors.initials: A
authors.lastname: Khromykh
authors.affiliation: Inova Children's Hospital, Inova Health System, Falls Church, Virginia.|Division of Genetics and Metabolism, Children's National Medical Center, Washington, District of Columbia; and.
authors.forename: Holly
authors.initials: H
authors.lastname: Babcock
authors.affiliation: Inova Translational Medicine Institute and.
authors.forename: Callie
authors.initials: C
authors.lastname: Jenevein
authors.affiliation: Inova Translational Medicine Institute and benjamin.solomon@inova.org.|Inova Children's Hospital, Inova Health System, Falls Church, Virginia.|Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia.
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
mesh_terms: D030541:Databases, Genetic; D019468:Disease Management; D005817:Genetic Counseling / Q000379:methods / Q000458:organization & administration; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000628:therapy; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics / Q000193:education / Q000379:methods; D006295:Health Resources / Q000458:organization & administration*; D006776:Hospitals, Pediatric; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods / Q000458:organization & administration; D010372:Pediatrics / Q000379:methods*