Abstract
Objective: Evidence documenting management of incidental findings (IFs) from clinical genomic testing is limited. The aim of this study was to examine genetics specialists' perspectives regarding current and preferred disclosure of clinical genomic IFs. Methods: 50 genetics specialists, including medical geneticists, laboratory professionals, genetic counselors, and nurses participated in structured telephone interviews. Data were analyzed using qualitative content analysis and descriptive statistics. Results: Most specialists had encountered IFs, but definitions of IFs varied. They discussed challenges with informing patients about the prospect of IFs and disclosing IFs to patients. Causing psychological harm to patients was a concern. Participants were divided on whether IFs needed to be clinically significant and/or actionable in order to be disclosed to patients. Creating formal disclosure guidelines was considered useful, but only if they were flexible. Additional counseling, more interdisciplinary communication, maintaining contact with patients, and a centralized database to interpret IFs were also proposed. Conclusion: Genetics specialists offer insights into the challenges of defining IFs, knowing when and how to disclose them, and the potential need for flexible disclosure guidelines. Practice implications: Further discussion between practicing genetics specialists is needed to develop consensus on the development of best-practice guidelines for IF management.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 133-138 |
| Number of pages | 6 |
| Journal | Patient Education and Counseling |
| Volume | 90 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 2013 |
| Externally published | Yes |
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Keywords
- Clinical genetics
- Disclosure
- Genomics
- Incidental findings
ASJC Scopus subject areas
- Medicine(all)
Cite this
Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting. / Downing, Nancy R.; Williams, Janet K.; Daack-Hirsch, Sandra; Driessnack, Martha; Simon, Christian M.
In: Patient Education and Counseling, Vol. 90, No. 1, 01.2013, p. 133-138.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting
AU - Downing, Nancy R.
AU - Williams, Janet K.
AU - Daack-Hirsch, Sandra
AU - Driessnack, Martha
AU - Simon, Christian M.
PY - 2013/1
Y1 - 2013/1
N2 - Objective: Evidence documenting management of incidental findings (IFs) from clinical genomic testing is limited. The aim of this study was to examine genetics specialists' perspectives regarding current and preferred disclosure of clinical genomic IFs. Methods: 50 genetics specialists, including medical geneticists, laboratory professionals, genetic counselors, and nurses participated in structured telephone interviews. Data were analyzed using qualitative content analysis and descriptive statistics. Results: Most specialists had encountered IFs, but definitions of IFs varied. They discussed challenges with informing patients about the prospect of IFs and disclosing IFs to patients. Causing psychological harm to patients was a concern. Participants were divided on whether IFs needed to be clinically significant and/or actionable in order to be disclosed to patients. Creating formal disclosure guidelines was considered useful, but only if they were flexible. Additional counseling, more interdisciplinary communication, maintaining contact with patients, and a centralized database to interpret IFs were also proposed. Conclusion: Genetics specialists offer insights into the challenges of defining IFs, knowing when and how to disclose them, and the potential need for flexible disclosure guidelines. Practice implications: Further discussion between practicing genetics specialists is needed to develop consensus on the development of best-practice guidelines for IF management.
AB - Objective: Evidence documenting management of incidental findings (IFs) from clinical genomic testing is limited. The aim of this study was to examine genetics specialists' perspectives regarding current and preferred disclosure of clinical genomic IFs. Methods: 50 genetics specialists, including medical geneticists, laboratory professionals, genetic counselors, and nurses participated in structured telephone interviews. Data were analyzed using qualitative content analysis and descriptive statistics. Results: Most specialists had encountered IFs, but definitions of IFs varied. They discussed challenges with informing patients about the prospect of IFs and disclosing IFs to patients. Causing psychological harm to patients was a concern. Participants were divided on whether IFs needed to be clinically significant and/or actionable in order to be disclosed to patients. Creating formal disclosure guidelines was considered useful, but only if they were flexible. Additional counseling, more interdisciplinary communication, maintaining contact with patients, and a centralized database to interpret IFs were also proposed. Conclusion: Genetics specialists offer insights into the challenges of defining IFs, knowing when and how to disclose them, and the potential need for flexible disclosure guidelines. Practice implications: Further discussion between practicing genetics specialists is needed to develop consensus on the development of best-practice guidelines for IF management.
KW - Clinical genetics
KW - Disclosure
KW - Genomics
KW - Incidental findings
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UR - http://www.scopus.com/inward/citedby.url?scp=84870837938&partnerID=8YFLogxK
U2 - 10.1016/j.pec.2012.09.010
DO - 10.1016/j.pec.2012.09.010
M3 - Article
C2 - 23068909
AN - SCOPUS:84870837938
VL - 90
SP - 133
EP - 138
JO - Patient Education and Counseling
JF - Patient Education and Counseling
SN - 0738-3991
IS - 1
ER -