Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer

Domchek, Susan M.; Nathanson, Katherine L.

doi:10.1038/gim.2014.56

Cited by 13 publications

(7 citation statements)

References 8 publications

(10 reference statements)

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“…Although some patients have documented changes in medical management, 4 how often multiplex testing results in a change beyond what would have been recommended based on personal and family history alone remains unclear and will require larger prospective studies. 40 Even if test results do not change what medical providers recommend, a positive genetic test result might result in greater screening compliance or adoption of risk-reducing interventions. 7 In addition, there may be benefits to family members, although these will vary by gene and by family history.…”

Section: Original Research Articlementioning

confidence: 99%

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Bradbury

Patrick‐Miller

Egleston

et al. 2016

Genetics in Medicine

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119

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Original research article INTRODUCTION Multiplex (i.e., multigene) panels including both high-and moderate-penetrance cancer susceptibility genes are currently being used in clinical practice despite questions regarding their clinical utility and no standard approach to genetic counseling and delivery. [1][2][3][4][5][6] The inclusion of genes with varying penetrance and clinical utility has raised concerns. 7 There are both advantages and disadvantages of multigene testing (as opposed to traditional phenotype-driven sequential testing), presenting challenges to patient education and informed decision making.3,7-10 The advantages and disadvantages of testing options must be shared with patients so they can make an informed decision regarding genetic testing. 8,[11][12][13][14] Traditional comprehensive models for pretest counseling and informed consent could be associated with information overload and poor informed decision making. 7,15 In addition, multiplex testing has the potential to increase anxiety, uncertainty, and the adoption of inappropriate screening procedures or risk-reducing surgeries. 3,7 Effective genetic education and counseling could minimize these risks and enhance adaptive responses to receiving multiplex results. 13This study has several aims. First, we sought to obtain patient feedback regarding the tiered-binned model for informed consent and counseling for multiplex testing among patients with a personal or family history of breast cancer. Second, we sought to begin to evaluate patient uptake of testing after pretest counseling and to evaluate informed decision making with the tiered-binned model. Third, we sought to begin to explore short-term cognitive and affective outcomes in clinical populations to better understand the potential risks, benefits, and utilities of incorporating multiplex genetic testing for breast cancer susceptibility assessment in clinical care. Purpose: The risks, benefits, and utilities of multiplex panels for breast cancer susceptibility are unknown, and new counseling and informed consent models are needed. We sought to obtain patient feedback and early outcome data with a novel tiered-binned model for multiplex testing.Methods: BRCA1/2-negative and untested patients completed preand posttest counseling and surveys evaluating testing experiences and cognitive and affective responses to multiplex testing. Results:Of 73 patients, 49 (67%) completed pretest counseling. BRCA1/2-negative patients were more likely to proceed with multiplex testing (86%) than those untested for BRCA1/2 (43%; P < 0.01). Many patients declining testing reported concern for uncertainty and distress. Most patients would not change anything about their pre-(76%) or posttest (89%) counseling sessions. Thirtythree patients (72%) were classified as making an informed choice, including 81% of those who proceeded with multiplex testing. Knowledge increased significantly. Anxiety, depression, uncertainty, and cancer worry did not significantly increase with multiplex testing. Conclusion:Some pati...

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Section: Original Research Articlementioning

confidence: 99%

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Bradbury

Patrick‐Miller

Egleston

et al. 2016

Genetics in Medicine

Self Cite

119

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“…Nonetheless, because there is 2 decades more experience with BRCA1 and BRCA2 than with most other breast cancer genes, we suggest that population-based screening begin with BRCA1 and BRCA2, with the important understanding that women from severely affected families be tested for all known breast and ovarian cancer genes. 9 As population-based screening for BRCA1 and BRCA2 among adult women becomes a routine part of clinical practice, other genes are expected to be phased into the process.…”

mentioning

confidence: 99%

Population-Based Screening forBRCA1andBRCA2

King

Levy-Lahad

Lahad

2014

JAMA

246

175

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“…12,13 In the current study, 7 of the 1,824 unselected patients with TNBC, 3.7% had mutations in 15 additional genes. The use of multigene or panel testing (in which many genes are tested simultaneously for deleterious mutations) is rapidly expanding in the assessment of breast cancer susceptibility, and the potential issues regarding their use have been elaborated.…”

mentioning

confidence: 51%

“…12,13,19 Clinicalbreastcancergeneticsisrapidlychanging,leadingtomanyas yetunansweredquestionssuchastheroleoffurtherexpandingthecriteria for individuals to undergo screening for cancer susceptibility and the role ofpaneltesting.Whiletheevidencebasefortheseissuesevolves,weshould not lose sight of the fact that genetic testing for BRCA1 and BRCA2 mutations remains the mainstay in breast cancer with clearly established clinical utility. As stated by the NCCN guidelines with regard to genetic testing, "Testing is focused on identifying a mutation known to be clinically actionable-that is, whether the management of an individual patient is altered based on the presence or absence of a mutation."…”

mentioning

confidence: 99%

Evolution of Genetic Testing for Inherited Susceptibility to Breast Cancer

Domchek

2015

JCO

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The following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated. Relationships are self-held unless noted. I ϭ Immediate Family Member, Inst ϭ My Institution. Relationships may not relate to the subject matter of this manuscript. For more information about ASCO's conflict of interest policy, please refer to www.asco.org/rwc or jco.ascopubs.org/site/ifc. Susan M. Domchek Research Funding: Clovis Oncology (Inst), Abbvie (Inst), AstraZeneca (Inst) Editorial www.jco.org

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Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer

Cited by 13 publications

References 8 publications

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Population-Based Screening forBRCA1andBRCA2

Evolution of Genetic Testing for Inherited Susceptibility to Breast Cancer

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