Patients’ views on variants of uncertain significance across indications

Kristin Clift, Sarah Macklin, Colin Halverson, Jennifer B. McCormick, Abd Moain Abu Dabrh, Stephanie Hines

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


As genomic sequencing expands into more areas of patient care, an increasing number of patients learn of the variants of uncertain significance (VUSs) that they carry. Understanding the potential psychosocial consequences of the disclosure of a VUS can help inform pre- and post-test counseling discussions. Medical uncertainty in general elicits a variety of responses from patients, particularly in the growing field of medical genetics and genomics. It is important to consider patients’ responses to the ambiguous nature of VUSs across different indications and situational contexts. Genetic counselors and other providers ordering genetic testing should be prepared for the possibility of their patients’ misinterpretation of such results. Pre-test counseling should include a discussion of the possibility of VUSs and what it would mean for the patient’s care and its potential psychosocial impacts. When a VUS is found, post-test counseling should include additional education and a discussion of the variant’s implications and medical management recommendations based on the results. These discussions may help temper subjective interpretations, unrealistic views, and decisional regret.

Original languageEnglish (US)
Pages (from-to)139-145
Number of pages7
JournalJournal of Community Genetics
Issue number2
StatePublished - Apr 1 2020

All Science Journal Classification (ASJC) codes

  • Epidemiology
  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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