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Related Concept Videos

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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
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Exploring uncertainties regarding unsolicited findings in genetic testing.

Vyne van der Schoot1, Eline van der Meer2, Marij A Hillen3

  • 1Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands.

Patient Education and Counseling
|November 17, 2023
PubMed
Summary

Uncertainty about facts and values in clinical genetics, particularly regarding unsolicited findings (UFs), is significant. Moral conflicts, such as autonomy versus beneficence, are key drivers of this uncertainty, impacting genetic counseling.

Keywords:
Clinical geneticsNormativeUncertaintyUnsolicited findings

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Area of Science:

  • Clinical Genetics
  • Medical Ethics
  • Psychosocial Aspects of Genetic Testing

Background:

  • Uncertainty regarding empirical facts (non-normative) and moral values (normative) is relevant in clinical genetics.
  • Unsolicited findings (UFs) present unique challenges in genetic counseling.
  • Understanding normative uncertainty can inform counseling practice improvements.

Purpose of the Study:

  • To explore the roles of non-normative and normative uncertainty concerning UFs.
  • To analyze counselee and counselor perspectives on uncertainty related to UFs.
  • To identify moral conflicts contributing to uncertainty in genetic counseling.

Main Methods:

  • Secondary qualitative analysis of interviews with 20 counselees and 20 counselors.
  • Utilized a deductive approach based on Han et al.'s uncertainty framework.
  • Incorporated normative uncertainty into the existing theoretical framework.

Main Results:

  • Counselees experienced practical and personal non-normative uncertainty; counselors faced scientific uncertainties.
  • Normative uncertainty was a pervasive theme, involving moral conflicts.
  • Key moral conflicts identified: autonomy vs. beneficence/non-maleficence and autonomy vs. truthfulness.

Conclusions:

  • Further research on UF penetrance and clinical utility is needed.
  • Moral conflicts are a significant source of uncertainty in clinical genetics.
  • Addressing counselees' normative uncertainties and conflicts is crucial for optimizing genetic counseling.