scholarly journals Economic impact of multigene panel testing for hereditary breast and ovarian cancer

2021 ◽  
Vol 10 (3) ◽  
pp. 207-217
Author(s):  
Stacey Dacosta Byfield ◽  
Helen Wei ◽  
Mary DuCharme ◽  
Johnathan M Lancaster

Aim: Healthcare utilization and costs were compared following 25-gene panel (panel) or single syndrome (SS) testing for hereditary breast and ovarian cancer. Materials & methods: Retrospective cohort study of patients unaffected by cancer with panel (n = 6359) or SS (n = 4681) testing for hereditary breast and ovarian cancer (01 January 2014 to 31 December 2016). Groups were determined by test type and result (positive, negative, variant of uncertain significance [VUS]). Results: There were no differences in total unadjusted healthcare costs between the panel (US$14,425) and SS (US$14,384) groups (p = 0.942). Among VUS patients in the panel and SS groups, mean all-cause costs were US$14,404 versus US$20,607 (p = 0.361) and mean risk-reduction/early detection-specific costs were US$718 versus US$679 (p = 0.890), respectively. Adjusted medical costs were not significantly different between panel and SS cohorts. Conclusion: Healthcare utilization and costs were comparable between the SS and panel tests overall and for patients with VUS.


2015 ◽  
Vol 81 (10) ◽  
pp. 941-944 ◽  
Author(s):  
Dt R. Howarth ◽  
Sharon S. Lum ◽  
Pamela Esquivel ◽  
Carlos A. Garberoglio ◽  
Maheswari Senthil ◽  
...  

Multigene panel testing for hereditary cancer risk has recently become commercially available; however, the impact of its use on patient care is undefined. We sought to evaluate results from implementation of panel testing in a multidisciplinary cancer center. We performed a retrospective review of consecutive patients undergoing genetic testing after initiating use of multigene panel testing at Loma Linda University Medical Center. From February 13 to August 25, 2014, 92 patients were referred for genetic testing based on National Comprehensive Cancer Network guidelines. Testing was completed in 90 patients. Overall, nine (10%) pathogenic mutations were identified: five BRCA1/2, and four in non-BRCA loci. Single-site testing identified one BRCA1 and one BRCA2 mutation. The remaining mutations were identified by use of panel testing for hereditary breast and ovarian cancer. There were 40 variants of uncertain significance identified in 34 patients. The use of panel testing more than doubled the identification rate of clinically significant pathogenic mutations that would have been missed with BRCA testing alone. The large number of variants of uncertain significance identified will require long-term follow-up for potential reclassification. Multigene panel testing provides additional information that may improve patient outcomes.



2019 ◽  
Vol 493 ◽  
pp. S576-S577
Author(s):  
V. Castillo-Guardiola ◽  
M.D. Sarabia-Meseguer ◽  
J.A. Macías-Cerrolaza ◽  
Á. García-Aliaga ◽  
L. Rosado-Jiménez ◽  
...  


2016 ◽  
Vol 34 (15_suppl) ◽  
pp. e13116-e13116
Author(s):  
Sarab Lizard ◽  
Marie Eliade ◽  
Jeremy Skrzypski ◽  
Amandine Baurand ◽  
Caroline Jacquot ◽  
...  


Oncotarget ◽  
2016 ◽  
Vol 8 (2) ◽  
pp. 1957-1971 ◽  
Author(s):  
Marie Eliade ◽  
Jeremy Skrzypski ◽  
Amandine Baurand ◽  
Caroline Jacquot ◽  
Geoffrey Bertolone ◽  
...  


2019 ◽  
Vol 45 (1) ◽  
pp. 83-90
Author(s):  
Taha Bahsi ◽  
Haktan Bağış Erdem

Abstract Objectives Hereditary breast and ovarian cancer syndrome is chacterized with multiple cases of breast cancer and/or ovarian cancer on the same side of the family. BRCA1/BRCA2 genes are associated with 20–25% of all patients. For developing national health policies for genetic testing, it is important to determine the range of pathogenic mutations in susceptibility genes and to identify recurrent founder mutations. Materials and methods All the patients were provided BRCA testing criteria according to National Comprehensive Cancer Network. QIAseq multiplex amplicon panel, BRCA MASTR™ Dx and Ion AmpliSeq Panel were used for BRCA1/BRCA2 coding regions. SALSA® MLPA® was performed for negative patients. Results Of 1419 patients, 134 (9.4%) were found to carry a pathogenic and 5 (0.3%) were found to carry a likely pathogenic mutation. Of those, 58 patients were found to carry a mutation in BRCA1 and 64 in BRCA2. Variant of uncertain significance was detected in 91 patients (6.4%). Conclusion The spectrum of BRCA1/2 mutations in Turkish population has been shown in the largest patient group to date. The thesis that founder mutations show diversity in different populations has been confirmed in our study, and the mutations that are common in Turkish population have been presented in this study.



2015 ◽  
Vol 17 (5) ◽  
pp. 533-544 ◽  
Author(s):  
Stephen E. Lincoln ◽  
Yuya Kobayashi ◽  
Michael J. Anderson ◽  
Shan Yang ◽  
Andrea J. Desmond ◽  
...  


2016 ◽  
Vol 160 (3) ◽  
pp. 393-410 ◽  
Author(s):  
Rossella Graffeo ◽  
Luca Livraghi ◽  
Olivia Pagani ◽  
Aron Goldhirsch ◽  
Ann H. Partridge ◽  
...  


JAMA Oncology ◽  
2015 ◽  
Vol 1 (7) ◽  
pp. 943 ◽  
Author(s):  
Andrea Desmond ◽  
Allison W. Kurian ◽  
Michele Gabree ◽  
Meredith A. Mills ◽  
Michael J. Anderson ◽  
...  


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