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Putting the Pieces Together: Clinically Relevant Genetic and Genomic Resources for Hospitalists and Neonatologists
Rebecca Miller1, Alina Khromykh1, Holly Babcock2,3
1Inova Translational Medicine Institute and.
Insights
Genetic and genomic testing is advancing rapidly, but a shortage of experts necessitates accessible resources. This compilation offers free tools for clinicians managing rare genetic conditions in children.
Area of Science:
- Medical Genetics
- Clinical Pediatrics
- Healthcare Informatics
Background:
- Genetic conditions are common collectively, often presenting in neonates and young children.
- These conditions pose diagnostic and management challenges, impacting patients, families, and healthcare systems.
- Advances in genetic and genomic testing are increasing accessibility but outpace the availability of trained genetic specialists.
Purpose of the Study:
- To provide non-geneticist clinicians, such as hospitalists and neonatologists, with a curated list of free resources.
- To aid in the diagnosis and management of genetic conditions and related disorders.
- To support clinicians in navigating the complexities of genetic testing and counseling.
Main Methods:
- Compilation of free, primarily web-based resources relevant to genetic conditions.
- Categorization of resources including general information, condition databases, diagnostic aids, testing laboratory directories, and newborn screening information.
- Inclusion of supplementary materials like textbooks and practical case examples for clinicians.
Main Results:
- A categorized list of free online resources is presented to assist healthcare practitioners.
- Resources are designed for clinicians lacking specialized genetic training.
- Some resources offer patient-friendly materials for explaining complex genetic concepts.
Conclusions:
- Accessible resources are crucial for clinicians managing children with suspected genetic conditions.
- The provided list aims to bridge the knowledge gap and facilitate better patient care.
- These tools can empower hospitalists and neonatologists in the diagnosis and management of genetic disorders.
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.
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