Literature DB >> 31856387

Genetic health professionals' experiences returning results from diagnostic genomic sequencing to patients.

Danya F Vears1,2,3,4, Karine Sénécal5, Pascal Borry3,4.   

Abstract

Despite widespread use of genomic sequencing (GS) in clinical care, there has been little exploration of actual experiences of genetic health professionals (GHPs) using GS in clinical practice worldwide. To address this, semi-structured interviews were conducted with 31 clinical geneticists and genetic counselors across Europe, Australia, and Canada to explore their experiences with returning results from GS to patients. GHPs remarked that patients' reactions to receiving causative results vary; some patients are relieved or appreciative at identification of a genetic cause, while others express frustration that finding an answer does not lead to a treatment. GHPs discussed the importance of managing expectations in pre-test counseling to minimize disappointment. Although some patients experience mild distress, they generally cope well receiving unsolicited findings and appreciate being informed of their increased risk. While many GHPs felt patients understand what a variant of uncertain significance (VUS) means, a proportion found VUS quite difficult to convey and had concerns for patients' level of understanding. A proportion mentioned concerns regarding potential negative repercussions of non-genetic clinicians misinterpreting the significance of VUS. These results provide important insights into the challenges GHPs can experience returning GS results to patients, highlighting a need for additional training for GHPs and non-genetic clinicians.
© 2019 National Society of Genetic Counselors.

Entities:  

Keywords:  bioethics; genetic counseling; genome sequencing; incidental findings; next-generation sequencing; secondary findings; unsolicited findings; variants of uncertain significance

Mesh:

Year:  2019        PMID: 31856387     DOI: 10.1002/jgc4.1209

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  3 in total

1.  Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH.

Authors:  Kate Downes; Pascal Borry; Katrin Ericson; Keith Gomez; Andreas Greinacher; Michele Lambert; Eva Leinoe; Patrizia Noris; Chris Van Geet; Kathleen Freson
Journal:  J Thromb Haemost       Date:  2020-10       Impact factor: 5.824

2.  Clinicians' Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss.

Authors:  Lauren Notini; Clara L Gaff; Julian Savulescu; Danya F Vears
Journal:  J Clin Med       Date:  2021-12-22       Impact factor: 4.241

Review 3.  Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea.

Authors:  Namhee Kim; Sun-Young Kong; Jongha Yoo; Do-Hoon Kim; Soo Hyun Seo; Jieun Kim
Journal:  Ann Lab Med       Date:  2022-05-01       Impact factor: 3.464

  3 in total

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