Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing

Lea Godino, Liliana Varesco, William Bruno, Carla Bruzzone, Linda Battistuzzi, Marzena Franiuk, Sara Miccoli, Benedetta Bertonazzi, Claudio Graziano, Marco Seri, Daniela Turchetti

Research output: Contribution to journalArticlepeer-review


Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients’ preferences. We carried out semi-structured interviews with 307 individuals undergoing clinical genetic testing to explore their preferences for return of SFs in the hypothetical scenario that their test would be performed using ES/GS. Participants were 254 females (82.7%) and 53 males (17.3%), aged 18–86 years; 73.9% (81.1% of those with lower education levels) reported no prior knowledge of ES/GS. Prior knowledge of ES/GS was more common among patients tested for Mendelian conditions (34.5%), compared to those undergoing cancer genetic testing (22.3%) or carrier screening (7.4%). Despite this reported lack of knowledge, most participants (213, 69.6%) stated they would prefer to be informed of all possible results. Reasons in favor of disclosure included wanting to be aware of any risks (168; 83.6%) and to help relatives (23; 11.4%), but also hope that preventive measures might become available in the future (10, 5%). Conversely, potential negative impact on quality of life was the commonest motivation against disclosure. Among 179 participants seen for cancer genetic counseling who were interviewed again after test disclosure, 81.9% had not heard about ES/GS in the meantime; however, the proportion of participants opting for disclosure of any variants was lower (116; 64.8%), with 36 (20.1%) changing opinion compared to the first interview. Based on these findings, we conclude that genetic counseling for ES/GS should involve enhanced education and decision-making support to enable informed consent to SFs disclosure.

Original languageEnglish
JournalJournal of Genetic Counseling
Publication statusAccepted/In press - 2020


  • exome sequencing
  • genetic testing
  • genome sequencing
  • patient preferences
  • result disclosure
  • secondary findings

ASJC Scopus subject areas

  • Genetics(clinical)


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