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Updated: Jul 11, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[DECISION-MAKING FACILITATION MODEL IN UNCERTAINTY - GENETIC COUNSELING FOR PATHOGENIC AMNIOCENTESIS CMA RESULTS]
1Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel, Helen Schneider Hospital for Women, Rabin Medical Center, Petach Tikva, Israel.
Introduction:
Two approaches exist in clinical genetics - an approach that advocates non-directive genetic counseling and an approach of assisted patient decision-making. Genetic counseling for patients in the era of technological progress, a significant and rapid increase in existing knowledge and the availability of genetic information presents patients with difficult dilemmas under emotional burden with insufficient tools to support decision-making. This article presents a decision-making facilitation model for geneticists, using an example case of genetic counseling for a pathogenic chromosomal microarray result from fetal DNA after amniocentesis, with an unknown fetal clinical significance. The model includes preparation, coordination of expectations, decision aids and preparation for the day after the decision. The facilitation process is designed to support the decision-making process so that the couple can reach a decision that is suitable for them while minimizing regret in the future.

