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Updated: Feb 22, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The Experiences and Needs of Individuals with a Variant of Uncertain Significance on Genetic Tests for Hereditary
Danielle Gould1, Rae Walker2, Grace Makari-Judson3
1Elaine Marieb College of Nursing, University of Massachusetts Amherst; MGH Institute of Health Professions, Boston, MA.
Objectives:
The use of multigene panel testing to identify hereditary cancer susceptibility has led to a growing number of individuals receiving a variant of uncertain significance (VUS) result. This qualitative study aimed to describe the experiences of individuals with a VUS, with a focus on their communication with healthcare providers (HCPs) and family members.
Methods:
This study employed a constructivist grounded theory approach. Participants (N = 20) were recruited between January and July 2021 through social media and nonprofit organizations. Data were collected using semistructured interviews and verified transcripts.
Results:
Categories identified included motivations, communication with family, family characteristics, communication with HCPs, other factors affecting the testing experiences, feelings about having a VUS, recall and understanding of the test result and its implications, coping strategies used, and risk management strategies used.
Conclusions:
The proposed theoretical model included the key themes impacting the experience: context; decision-making; communication with HCPs and family; and the need for knowledgeable and trustworthy providers; met emotional needs; and open lines of communication. This model provides a framework to be used to meet the needs of individuals with VUS from pre- to post-testing process.
Implications For Nursing Practice:
The proposed theoretical model offers guidance for structuring patient-centered care, emphasizing the importance of trust, continuity, and accessible support from pre- to post-testing. Integrating this framework into nursing practice can enhance patient understanding, reduce uncertainty, and promote informed decision-making regarding risk management.
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