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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

A clinical perspective on ethical issues in genetic testing.

R H Sijmons¹, I M Van Langen, J G Sijmons

¹Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands. r.h.sijmons@medgen.umcg.nl

Accountability in Research

|May 17, 2011

Summary

This summary is machine-generated.

Genetic testing counseling ensures informed decisions. Whole genome sequencing presents new ethical challenges for clinical use, impacting patient privacy and clinician duties regarding genetic information.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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FISH for Pre-implantation Genetic Diagnosis

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Area of Science:

Genetics
Bioethics
Medical Ethics

Background:

Traditional genetic testing involves pre-test counseling to facilitate informed consent.
Whole genome and exome sequencing are emerging research tools with potential clinical applications.
These advanced sequencing techniques identify numerous mutations, including those with unknown clinical significance.

Purpose of the Study:

To explore the ethical implications of integrating advanced DNA sequencing into clinical practice.
To examine challenges related to pre- and postnatal genetic testing.
To discuss the balance between individual privacy and familial/scientific interests in genetic data.

Main Methods:

Ethical analysis of current and future genetic testing scenarios.
Discussion of privacy concerns associated with large-scale genetic data.
Review of the clinician's evolving responsibilities in genetic counseling.

Main Results:

Whole genome/exome sequencing may disrupt traditional informed consent models due to incidental findings of unknown significance.
Balancing individual privacy with family interests and research needs poses ethical dilemmas.
The clinician's duty to re-contact patients with new genetic information requires careful consideration.

Conclusions:

Clinical implementation of whole genome sequencing necessitates new ethical frameworks for genetic testing and counseling.
Ethical guidelines must address data privacy, incidental findings, and evolving clinician responsibilities.
Informed decision-making in genetic testing requires adapting to the complexities of advanced sequencing technologies.