Next-Generation Sequencing for Inherited Breast Cancer Risk: Counseling through the Complexity

Rainville, Irene; Rana, Huma Q.

doi:10.1007/s11912-013-0371-z

Cited by 56 publications

(41 citation statements)

References 81 publications

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“…Most multigene panels include genes with limited data regarding degree of cancer risk among carriers and that support guidelines for risk management. 4,[6][7][8][9] In addition, the cancer risk of many of these genes is not clear when ascertained in individuals who do not have the typical phenotype historically associated with the cancer gene. 4 Further, it is possible that the risks associated with these genes may not be due entirely to that gene only, but may also be influenced by gene/gene or gene/environment interactions.…”

Section: Overviewmentioning

confidence: 99%

“…4 Further, it is possible that the risks associated with these genes may not be due entirely to that gene only, but may also be influenced by gene/gene or gene/environment interactions. Multigene tests also increase the likelihood of detecting variants of unknown/uncertain significance (VUS), 4,5,[8][9][10][11][12] with likelihood rates ranging from 17% to 38%. 6,8,10,13 The considerable possibility of detecting a VUS adds to the complexity of counseling following multigene testing.…”

Section: Overviewmentioning

confidence: 99%

See 1 more Smart Citation

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

Gupta¹,

Provenzale²,

Regenbogen³

et al. 2017

J Natl Compr Canc Netw

146

163

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Section: Overviewmentioning

confidence: 99%

Section: Overviewmentioning

confidence: 99%

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

Gupta¹,

Provenzale²,

Regenbogen³

et al. 2017

J Natl Compr Canc Netw

146

163

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“…[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.…”

mentioning

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

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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“…That said, a focus group consisting of 19 participants is comparable in size to previous qualitative research studies on this topic and enabled us to identify recurrent themes [4,11]. Finally, it should be mentioned that not all relevant issues regarding the use NGS were addressed within the confines of the study [5,8,26]. Specifically concerns such as informed consent, duty to re-contact, potential harms, reimbursement for genetic counseling services, who should have access to NGS data, and ensuring confidentiality of NGS results were not addressed by the focus group given the aims of our study and the relatively short time over which it was conducted.…”

Section: Discussionmentioning

confidence: 91%

Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines

et al. 2015

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Next generation sequencing (NGS) technology is rapidly being implemented into clinical practice. Qualitative research was performed to gain an improved understanding of the landscape surrounding the use of NGS in cancer genetics. A focus group was conducted at the Wisconsin Cancer Risk Programs Network biannual meeting. Free flowing discussion with occasional open-ended questions provided insights into the use of NGS. 19 genetic counselors and medical professionals participated. Three major themes were identified with respect to NGS and its use in cancer genetics: knowledge gaps, the evolving clinician role, and uncertain utility. Several corresponding subthemes were identified. With respect to knowledge gaps, participants expressed concern regarding unexpected results and variants of unknown significance, lack of data about NGS findings, absence of standardization regarding use of NGS and guidelines for interpretation, and discomfort with new technology. Regarding the evolving clinician role, necessary changes to the roles of genetic counselors and physicians were noted, as was the resultant impact on care received by patients and their families. Finally, the clinical and economic utility of NGS was questioned. While a shift from traditional Sanger sequencing to NGS is occurring in molecular genetic testing for disease susceptibility, there are several obstacles that need to be overcome before widespread adoption of this technology can occur. Furthermore, key aspects of NGS and it utility remain unexplored. Continued investigation into these subjects is necessary before this technology will consistently be of benefit to patients and their families.

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Next-Generation Sequencing for Inherited Breast Cancer Risk: Counseling through the Complexity

Cited by 56 publications

References 81 publications

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017

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

Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines

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