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Updated: Aug 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Introduction to genetics for otorhinolaryngology nurses
Kirsten J Malone1, Sarah Sheets Cook
1School of Nursing, Columbia University, New York, NY, USA.
This article explores the clinical implications of genetic conditions affecting the head and neck for nurses. It covers inheritance patterns, specific disorders like cleft lip and palate, and psychosocial considerations for patient care.
Area of Science:
- Genetics
- Nursing
- Otorhinolaryngology
Background:
- Human genetics advances impact patient care.
- Nurses require knowledge of genetic conditions for effective practice.
- Head and neck conditions have significant genetic components.
Purpose of the Study:
- To inform otorhinolaryngology (ORL) and head-neck nurses about the clinical implications of genetic head and neck conditions.
- To provide a foundational understanding of genetic inheritance patterns relevant to these disorders.
- To discuss specific genetic conditions and their psychosocial aspects.
Main Methods:
- Review of basic inheritance patterns (autosomal dominant/recessive, X-linked, mitochondrial).
- Comparison of single-gene versus complex/multifactorial diseases.
- Discussion of specific craniofacial and hearing loss genetic conditions.
Main Results:
- Genetic factors play a crucial role in various head and neck disorders.
- Understanding inheritance patterns aids in patient assessment and counseling.
- Specific syndromes like cleft lip and palate, craniosynostosis, and hearing loss have identifiable genetic links.
Conclusions:
- Nurses need genetic knowledge to provide comprehensive care for patients with head and neck conditions.
- Genetic information, including psychosocial aspects, is vital for holistic patient management.
- This article serves as a resource for nurses dealing with genetic head and neck disorders.
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