Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.
Journal
JNCI cancer spectrum
ISSN: 2515-5091
Titre abrégé: JNCI Cancer Spectr
Pays: England
ID NLM: 101721827
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
14
10
2019
revised:
10
12
2019
accepted:
19
02
2020
entrez:
30
6
2020
pubmed:
1
7
2020
medline:
1
7
2020
Statut:
epublish
Résumé
The clinical impact of addressing potential germline alterations from tumor-only next-generation sequencing (NGS) is not well characterized. Current guidelines for cancer genetic testing may miss clinically actionable germline changes, which may have important implications for cancer screening, treatment, and prevention. We examined whether increasing involvement of the clinical genetics service during somatic tumor-only NGS review at Molecular Tumor Board (MTB) increases the detection of germline findings. In a retrospective evaluation of patients who underwent tumor-only NGS and were reviewed at MTB, we quantified genetic counseling (GC) referrals as well as germline testing uptake and results across three cohorts: before (C1) and after (C2) the addition of tumor-only NGS review and after (C3) instituting a formal process to coordinate NGS-based genetics referrals to preexisting oncology appointments. All statistical tests were two-sided. From 2013 to 2017, 907 tumor-only NGS reports were reviewed at MTB (n Both review of tumor-only NGS by genetics and the institution of a process coordinating GC with oncology appointments increased the discovery of germline pathogenic variants from tumor-only NGS testing. Furthermore, this process identified germline pathogenic variant carriers who would not have otherwise met standard criteria for germline testing.
Sections du résumé
BACKGROUND
BACKGROUND
The clinical impact of addressing potential germline alterations from tumor-only next-generation sequencing (NGS) is not well characterized. Current guidelines for cancer genetic testing may miss clinically actionable germline changes, which may have important implications for cancer screening, treatment, and prevention. We examined whether increasing involvement of the clinical genetics service during somatic tumor-only NGS review at Molecular Tumor Board (MTB) increases the detection of germline findings.
METHODS
METHODS
In a retrospective evaluation of patients who underwent tumor-only NGS and were reviewed at MTB, we quantified genetic counseling (GC) referrals as well as germline testing uptake and results across three cohorts: before (C1) and after (C2) the addition of tumor-only NGS review and after (C3) instituting a formal process to coordinate NGS-based genetics referrals to preexisting oncology appointments. All statistical tests were two-sided.
RESULTS
RESULTS
From 2013 to 2017, 907 tumor-only NGS reports were reviewed at MTB (n
CONCLUSIONS
CONCLUSIONS
Both review of tumor-only NGS by genetics and the institution of a process coordinating GC with oncology appointments increased the discovery of germline pathogenic variants from tumor-only NGS testing. Furthermore, this process identified germline pathogenic variant carriers who would not have otherwise met standard criteria for germline testing.
Identifiants
pubmed: 32596633
doi: 10.1093/jncics/pkaa018
pii: pkaa018
pmc: PMC7306190
doi:
Types de publication
Journal Article
Langues
eng
Pagination
pkaa018Subventions
Organisme : NCI NIH HHS
ID : K12 CA076917
Pays : United States
Informations de copyright
© The Author(s) 2020. Published by Oxford University Press.
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