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Updated: Jun 14, 2026
07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Duty to warn and genetic disease
Kathy Hodgkinson1, Daryl Pullman
1Clinical Epidemiology Unit and Discipline of Genetics, Memorial University of Newfoundland, St. John's, NL. khodgkin@mun.ca
Summary
Genetic researchers must consider clinical responsibilities for families with high-risk Mendelian diseases. Establishing clinical follow-up is crucial for ethical genetic research, especially for conditions like arrhythmogenic right ventricular cardiomyopathy.
Area of Science:
- Clinical Genetics
- Medical Research Ethics
- Mendelian Diseases
Background:
- Distinguishing between genetic research and clinical genetics is often ambiguous.
- Mendelian diseases with high recurrence risk, morbidity, or mortality present unique ethical considerations.
- Arrhythmogenic right ventricular cardiomyopathy serves as a case study for lethal Mendelian disorders.
Purpose of the Study:
- To discuss the ethical responsibilities of genetic researchers in clinical genetics.
- To highlight the need for clinical follow-up in genetic studies involving high-risk diseases.
- To propose solutions for managing the intersection of genetic research and clinical practice.
Main Methods:
- Clinical case review (arrhythmogenic right ventricular cardiomyopathy).
- Ethical analysis of genetic research protocols.
- Discussion of current practices in clinical genetics.
Main Results:
- Genetic researchers may hold responsibility for research subjects and their families.
- Ethical approval for genetic studies should require established clinical follow-up measures.
- A clear distinction and integration between research and clinical practice are needed.
Conclusions:
- Disease-based genetic registers within clinical genetic services can manage research-practice tensions.
- Ethical genetic research necessitates a framework that includes patient and family clinical care.
- Integrating genetic research with clinical genetics improves outcomes for Mendelian diseases.
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