Informing models of cancer genetic care in the era of multigene panel testing with patient‐led recommendations

2020 ◽  
Author(s):  
Meghan Underhill‐Blazey ◽  
Traci Blonquist ◽  
Anu Chittenden ◽  
Rachel Pozzar ◽  
Manan Nayak ◽  
...  
Keyword(s):  
Cancer Genetic ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals ‘We don’t know for sure’: discussion of uncertainty concerning multigene panel testing during initial cancer genetic consultations

2019 ◽  
Vol 19 (1) ◽  
pp. 65-76 ◽  
Author(s):  
Niki M. Medendorp ◽  
Marij A. Hillen ◽  
Pomme E. A. van Maarschalkerweerd ◽  
Cora M. Aalfs ◽  
Margreet G. E. M. Ausems ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Physician Assistants ◽  
Simulated Patient ◽  
Cancer Genetic Counseling ◽  
Simulated Patients ◽  
Cancer Genetic ◽  
Multiple Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

AbstractPre-test counseling about multigene panel testing involves many uncertainties. Ideally, counselees are informed about uncertainties in a way that enables them to make an informed decision about panel testing. It is presently unknown whether and how uncertainty is discussed during initial cancer genetic counseling. We therefore investigated whether and how counselors discuss and address uncertainty, and the extent of shared decision-making (SDM), and explored associations between counselors’ communication and their characteristics in consultations on panel testing for cancer. For this purpose, consultations of counselors discussing a multigene panel with a simulated patient were videotaped. Simulated patients represented a counselee who had had multiple cancer types, according to a script. Before and afterwards, counselors completed a survey. Counselors’ uncertainty expressions, initiating and the framing of expressions, and their verbal responses to scripted uncertainties of the simulated patient were coded by two researchers independently. Coding was done according to a pre-developed coding scheme using The Observer XT software for observational analysis. Additionally, the degree of SDM was assessed by two observers. Correlation and regression analyses were performed to assess associations of communicated uncertainties, responses and the extent of SDM, with counselors’ background characteristics. In total, twenty-nine counselors, including clinical geneticists, genetic counselors, physician assistants-in-training, residents and interns, participated of whom working experience varied between 0 and 25 years. Counselors expressed uncertainties mainly regarding scientific topics (94%) and on their own initiative (95%). Most expressions were framed directly (77%), e.g. We don’t know, and were emotionally neutral (59%; without a positive/negative value). Counselors mainly responded to uncertainties of the simulated patient by explicitly referring to the uncertainty (69%), without providing space for further disclosure (66%). More experienced counselors provided less space to further disclose uncertainty (p < 0.02), and clinical geneticists scored lower on SDM compared with other types of counselors (p < 0.03). Our findings that counselors mainly communicate scientific uncertainties and use space-reducing responses imply that the way counselors address counselees’ personal uncertainties and concerns during initial cancer genetic counseling is suboptimal.

Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing

2019 ◽  
Vol 102 (8) ◽  
pp. 1558-1564 ◽  
Author(s):  
Meghan Underhill-Blazey ◽  
Jill Stopfer ◽  
Anu Chittenden ◽  
Manan M. Nayak ◽  
Kristina Lansang ◽  
...  
Keyword(s):  
Genetic Knowledge ◽  
Cancer Genetic ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Application of Multigene Panel Testing In Patients With High Risk for Hereditary Colorectal Cancer

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Ji Soo Park ◽  
Jung Won Park ◽  
Saeam Shin ◽  
Seung-Tae Lee ◽  
Sang Joon Shin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
High Risk ◽  
Hereditary Colorectal Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

2017 ◽  
Vol 35 (22) ◽  
pp. 2568-2575 ◽  
Author(s):  
Carin R. Espenschied ◽  
Holly LaDuca ◽  
Shuwei Li ◽  
Rachel McFarland ◽  
Chia-Ling Gau ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Population Based ◽  
Brca1 And Brca2 ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
New Perspective ◽  
Testing Criteria ◽  
Multigene Panel

Purpose Most existing literature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal cancer (CRC) and endometrial cancer mainly as a result of mutations in MLH1 and MSH2. Most of these studies were performed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial cancer cohorts, possibly biasing results. We aimed to describe a large cohort of mismatch repair (MMR) mutation carriers ascertained through multigene panel testing, evaluate their phenotype, and compare the results with those of previous studies. Methods We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively. Of 528 patients who had MMR mutations, 63 (11.9%) had breast cancer only and 144 (27.3%) had CRC only. When comparing those with breast cancer only to those with CRC only, MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations ( P = 2.3 × 10−5). Of the 528 patients, 22.2% met BRCA1 and BRCA2 ( BRCA1/2) testing criteria and not LS criteria, and 5.1% met neither BRCA1/2 nor LS testing criteria. MSH6 and PMS2 mutations were more frequent than MLH1 and MSH2 mutations among patients who met BRCA1/2 testing criteria but did not meet LS testing criteria ( P = 4.3 × 10−7). Conclusion These results provide a new perspective on LS and suggest that individuals with MSH6 and PMS2 mutations may present with a hereditary breast and ovarian cancer phenotype. These data also highlight the limitations of current testing criteria in identifying these patients, as well as the need for further investigation of cancer risks in patients with MMR mutations.

scholarly journals Stomaching Multigene Panel Testing: What to Do About CDH1?

2019 ◽  
Vol 112 (4) ◽  
pp. 325-326
Author(s):  
Douglas R Stewart ◽  
Megan N Frone ◽  
Stephen J Chanock
Keyword(s):  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Multigene Panel Testing of Patients With Uterine Carcinoma Reveals Actionable Variants in Non-Canonical Genes [25O]

2019 ◽  
Vol 133 (1) ◽  
pp. 168-169
Author(s):  
Dwight Dae-Hoon Im ◽  
Arielle Yorczyk ◽  
Shan Yang ◽  
Scott Michalski ◽  
Robert Nussbaum ◽  
...  
Keyword(s):  
Panel Testing ◽  
Multigene Panel Testing ◽  
Actionable Variants ◽  
Multigene Panel

Abstract 4286: What have we learned from pancreatic cancer patients undergoing multigene panel testing

2017 ◽  
Author(s):  
Holly LaDuca ◽  
Chunling Hu ◽  
Hermela Shimelis ◽  
Eric Polley ◽  
Jenna Lilyquist ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Cancer Patients ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel
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