Sharing BRCA1/2 Test Results With First-Degree Relatives: Factors Predicting Who Women Tell

2006 ◽  
Vol 24 (4) ◽  
pp. 700-706 ◽  
Author(s):  
Andrea Farkas Patenaude ◽  
Michel Dorval ◽  
Lisa S. DiGianni ◽  
Katherine A. Schneider ◽  
Anu Chittenden ◽  
...  
Keyword(s):  
Family Communication ◽  
Genetic Test ◽  
Educational Interventions ◽  
Test Results ◽  
Related Factors ◽  
True Negative ◽  
Full Spectrum ◽  
First Degree Relatives ◽  
Genetic Test Results ◽  
Test Result

Purpose Patient communication with relatives about cancer genetic test results is the primary means for alerting those who may benefit from identification of hereditary risk. This study identifies factors predicting patterns of disclosure of BRCA1/2 test results to first-degree relatives (FDRs) among women tested in a clinical protocol. Patients and Methods A total of 273 women completed a family communication measure 4 months after BRCA1/2 result disclosure. χ2 analyses and logistic regression models identified factors predicting sharing of the test result. Results Most FDRs were informed of the participant's test result by 4 months; female relatives were more likely to be informed than males. Tested women conveyed inconclusive results (variant or negative without known familial mutation) less frequently to their sisters than conclusive (positive/true negative) results (P = .03). Twenty-three percent of participants did not inform their father. Informing brothers was more likely when BRCA1/2 was inherited through paternal lineage (P = .04), but 29% of brothers were not informed. Women older than age 40 were less likely to share their result with their parents (P = .03) than were women ≤ 40. Children's ages influenced communication to offspring; most children were told. Conclusion Demographic, health-, and test-related factors predicted genetic test result communication to FDRs. Additional research investigating the full spectrum of discussion within families and motives for incomplete sharing of genetic test results with relatives may suggest strategies for providers and targeted educational interventions for patients to enhance family communication.

Patient recommendations for content and design for electronic return of genetic test results: An interview study among patients who accessed their genetic test results online (Preprint)

2021 ◽  
Author(s):  
Diane M Korngiebel ◽  
Kathleen McGlone West
Keyword(s):  
Patient Preferences ◽  
Genetic Test ◽  
Smartphone Application ◽  
Patient Portal ◽  
Genetic Test Result ◽  
Test Results ◽  
User Centered Design ◽  
Detailed Report ◽  
Genetic Test Results ◽  
Test Result

BACKGROUND Genetic test results will be increasingly made available electronically as more patient-facing tools are developed; however, little research has been done that collects patient preferences for content and design before creating results templates. OBJECTIVE This study identifies patient preferences for electronic return of genetic test results, including what considerations should be prioritized for content and design. METHODS Following User-Centered Design methods, 59 interviews were conducted using semi-structured protocols. The interviews explored content and design issues for patient portal results return for patients who received electronic results for specific types of genetic tests (pharmacogenomic, hereditary blood disorders, and positive and negative risk results for heritable cancers) or who had electronically received any type of genetic test result as well as a non-genetic test result. RESULTS In general, a majority of participants felt that there always needed to be some clinician involvement in electronic results return and that electronic coversheets with simple summaries would be helpful for facilitating that. Coversheet summaries could accompany, but not replace, the more detailed report. Participants had specific suggestions for those results summaries, such as only reporting the information that was most important for patients to understand, including next steps, and to do so using clear language free of medical jargon. Electronic results return should also include explicit encouragement for patients to contact providers with questions. Finally, many participants preferred to manage their care using their smartphones, particularly in instances where they needed to access health information on the go. CONCLUSIONS Participants recommended that a patient-friendly front section accompany the more detailed report and made suggestions for organization, content, and wording. Many used their smartphones regularly to access test results, therefore, health systems and patient portal software vendors should accommodate smartphone application design and web portal design concomitantly when developing results return platforms. CLINICALTRIAL N/A

scholarly journals Family communication about positive BRCA1 and BRCA2 genetic test results

2004 ◽  
Vol 6 (6) ◽  
pp. 503-509 ◽  
Author(s):  
Bobbi McGivern ◽  
Jessica Everett ◽  
Geoffrey G Yager ◽  
Robert C Baumiller ◽  
Amanda Hafertepen ◽  
...  
Keyword(s):  
Family Communication ◽  
Genetic Test ◽  
Test Results ◽  
Brca1 And Brca2 ◽  
Genetic Test Results

Cancer risk management and family communication of genetic test results among women with inherited breast cancer genes.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1532-1532
Author(s):  
Tuya Pal ◽  
Anne Weidner ◽  
Ann Tezak ◽  
Kate Clouse ◽  
Deborah Cragun
Keyword(s):  
Breast Cancer ◽  
Family Communication ◽  
Genetic Test ◽  
Bilateral Mastectomy ◽  
Test Results ◽  
Genetic Test Results ◽  
Family Testing ◽  
Inherited Breast Cancer ◽  
History Of ◽  
Risk Reducing

1532 Background: Identification of inherited breast cancer may guide care, with benefits amplified through family testing. Methods: Females with a pathogenic/likely pathogenic (P/LP) variant in BRCA1/2, PALB2, CHEK2, and/or ATM were surveyed about cancer risk management, family communication of genetic test results, and family testing. Comparisons were made across genes. Results: The 235 participants with P/LP variants (186 BRCA1/2, 28 PALB2, 15 CHEK2, and 6 ATM) had a median age of 54 and 61% had a prior breast cancer diagnosis. For women with P/LP variants in BRCA1/2, PALB2, and ATM/CHEK2, bilateral mastectomy rates were 79%, 61%, and 52%, respectively; and risk-reducing oophorectomy rates were 89%, 30%, and 37%, respectively. All women with PALB2 and ATM/CHEK2 P/LP variants with a bilateral mastectomy had a personal or family history of breast cancer; however, only 27% of those with a risk-reducing oophorectomy had a family history of ovarian cancer. Family communication of genetic test results and family testing rates were higher for those with P/LP variants in BRCA1/2 compared to others. Conclusions: Bilateral mastectomy and risk-reducing oophorectomy were relatively common among women with PALB2 and ATM/CHEK2 P/LP variants in our study, suggesting overtreatment through risk-reducing surgery. Furthermore, strategies to improve family communication of genetic test results and family testing are needed to amplify testing benefits.

scholarly journals Development of a Web-based Family Intervention for BRCA Carriers and Their Biological Relatives: Acceptability, Feasibility, and Usability Study (Preprint)

2017 ◽  
Author(s):  
Maria C Katapodi ◽  
Miyeon Jung ◽  
Ann M Schafenacker ◽  
Kara J Milliron ◽  
Kari E Mendelsohn-Victor ◽  
...  
Keyword(s):  
Pilot Study ◽  
Family Communication ◽  
Genetic Test ◽  
Test Results ◽  
Brca Mutations ◽  
Web Based ◽  
Genetic Test Results ◽  
The Family ◽  
Family Gene ◽  
Brca Carriers

BACKGROUND Carriers of breast cancer gene (BRCA) mutations are asked to communicate genetic test results to their biological relatives to increase awareness of cancer risk and promote use of genetic services. This process is highly variable from family to family. Interventions that support communication of genetic test results, coping, and offer decision support in families harboring a pathogenic variant may contribute to effective management of hereditary cancer. OBJECTIVE The aim of this paper was to describe the development of the Family Gene Toolkit, a Web-based intervention targeting BRCA carriers and untested blood relatives, designed to enhance coping, family communication, and decision making. METHODS We present findings from focus groups regarding intervention acceptability and participant satisfaction and from a pre-post pilot study with random allocation to a wait-listed control group regarding intervention feasibility and usability. RESULTS The Family Gene Toolkit was developed by a multidisciplinary team as a psycho-educational and skills-building intervention. It includes two live webinar sessions and a follow-up phone call guided by a certified genetic counselor and a master’s prepared oncology nurse. Each live webinar includes two modules (total four modules) presenting information about BRCA mutations, a decision aid for genetic testing, and two skill-building modules for effective coping and family communication. Participants in focus groups (n=11) were highly satisfied with the intervention, reporting it to be useful and describing clearly the important issues. From the 12 dyads recruited in the pre-post pilot study (response rate 12/52, 23%), completion rate was 71% (10/14) for intervention and 40% (4/10) for wait-listed control groups. CONCLUSIONS Acceptability and satisfaction with the Family Gene Toolkit is high. On the basis of the findings from usability and feasibility testing, modifications on timing, delivery mode, and recruitment methods have been implemented. CLINICALTRIAL ClinicalTrials.gov NCT02154633; https://clinicaltrials.gov/ct2/show/NCT02154633 (Archived by WebCite at http://www.webcitation.org/6yYNvLPjv)

scholarly journals Do Breast Cancer Patients Tested in the Oncology Care Setting ShareBRCAMutation Results with Family Members and Health Care Providers?

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Susan T. Vadaparampil ◽  
Teri Malo ◽  
Cara de la Cruz ◽  
Juliette Christie
Keyword(s):  
Breast Cancer ◽  
Cancer Patients ◽  
Care Setting ◽  
Genetic Test ◽  
Family Members ◽  
Test Results ◽  
Breast Cancer Patients ◽  
First Degree Relatives ◽  
Genetic Test Results ◽  
Oncology Care

BRCAgenetic test results provide important information to manage cancer risk for patients and their families. Little is known on the communication of genetic test results by mutation status with family members and physicians in the oncology care setting. As part of a longitudinal study evaluating the impact of genetic counseling and testing among recently diagnosed breast cancer patients, we collected patients' self-reported patterns of disclosure. Descriptive statistics characterized the sample and determined the prevalence of disclosure ofBRCAtest results to family members and physicians. Of 100 patients who completed the baseline and the 6-month followup survey, 77 reported pursuing testing. The majority shared test results with female first-degree relatives; fewer did with males. Participants were more likely to share results with oncologists compared to surgeons, primary care physicians, or other specialty physicians. These findings suggest that while breast cancer patients may communicate results to at-risk female family members and their medical oncologist, they may need education and support to facilitate communication to other first-degree relatives and providers.

scholarly journals IMProving care After inherited Cancer Testing (IMPACT) study: protocol of a randomized trial evaluating the efficacy of two interventions designed to improve cancer risk management and family communication of genetic test results

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Deborah Cragun ◽  
Jason Beckstead ◽  
Meagan Farmer ◽  
Gillian Hooker ◽  
Marleah Dean ◽  
...  
Keyword(s):  
Risk Management ◽  
Genetic Testing ◽  
Family Communication ◽  
Genetic Test ◽  
Test Results ◽  
Impact Study ◽  
Inherited Cancer ◽  
Genetic Test Results ◽  
Cancer Risk Management

Abstract Background Implementing genetic testing for inherited cancer predisposition into routine clinical care offers a tremendous opportunity for cancer prevention and early detection. However, genetic testing itself does not improve outcomes; rather, outcomes depend on implemented follow-up care. The IMPACT study is a hybrid type I randomized effectiveness-implementation trial to simultaneously evaluate the effectiveness of two interventions for individuals with inherited cancer predisposition focused on: 1) increasing family communication (FC) of genetic test results; and 2) improving engagement with guideline-based cancer risk management (CRM). Methods This prospective study will recruit a racially, geographically, and socioeconomically diverse population of individuals with a documented pathogenic/likely pathogenic (P/LP) variant in an inherited cancer gene. Eligible participants will be asked to complete an initial trial survey and randomly assigned to one of three arms: A) GeneSHARE, a website designed to increase FC of genetic test results; B) My Gene Counsel’s Living Lab Report, a digital tool designed to improve understanding of genetic test results and next steps, including CRM guidelines; or C) a control arm in which participants continue receiving standard care. Follow-up surveys will be conducted at 1, 3, and 12 months following randomization. These surveys include single-item measures, scales, and indices related to: 1) FC and CRM behaviors and behavioral factors following the COM-B theoretical framework (i.e., capability, opportunity, and motivation); 2) implementation outcomes (i.e., acceptability, appropriateness, exposure, and reach); and 3) other contextual factors (i.e., sociodemographic and clinical factors, and uncertainty, distress, and positive aspects of genetic test results). The primary outcomes are an increase in FC of genetic test results (Arm A) and improved engagement with guideline-based CRM without overtreatment or undertreatment (Arm B) by the 12-month follow-up survey. Discussion Our interventions are designed to shift the paradigm by which individuals with P/LP variants in inherited cancer genes are provided with information to enhance FC of genetic test results and engagement with guideline-based CRM. The information gathered through evaluating the effectiveness and implementation of these real-world approaches is needed to modify and scale up adaptive, stepped interventions that have the potential to maximize FC and CRM. Trial registration This study is registered at Clinicaltrials.gov (NCT04763915, date registered: February 21, 2021). Protocol version September 17th, 2021 Amendment Number 04.

scholarly journals Colorectal Cancer Risk Perception on the Basis of Genetic Test Results in Individuals at Risk for Lynch Syndrome

2009 ◽  
Vol 27 (24) ◽  
pp. 3981-3986 ◽  
Author(s):  
Shilpa Grover ◽  
Elena M. Stoffel ◽  
Rowena C. Mercado ◽  
Beth M. Ford ◽  
Wendy K. Kohlman ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Risk Perception ◽  
Cancer Risk ◽  
Lynch Syndrome ◽  
Genetic Test ◽  
Genetic Test Result ◽  
Test Results ◽  
Genetic Test Results ◽  
Test Result

Purpose Lynch syndrome is associated with inherited germline mutations in mismatch repair (MMR) genes. Genetic testing in high-risk individuals may yield indeterminate results if no mutation is found or if a mutation of unclear pathogenic significance is observed. There are limited data regarding how well patients with Lynch syndrome understand the clinical implications of genetic test results. This study examines colorectal cancer (CRC) risk perception in individuals tested for MMR mutations and identifies the factors associated with an appropriate interpretation of their cancer risk. Patients and Methods A total of 159 individuals who met the Revised Bethesda Guidelines and had previously undergone genetic testing completed a questionnaire eliciting demographic data, cancer history, genetic test results, and an estimate of their CRC risk. Associations between clinical factors, genetic test results, and CRC risk perception were explored using multivariable analyses. Results Of the 100 individuals with a pathogenic mutation (true positive), 90 (90%) correctly estimated their CRC risk as “high” or “very high” compared with other individuals their age. However, only 23 (62%) of 37 individuals with an indeterminate genetic test result correctly estimated their risk. Individuals with a history of Lynch syndrome–associated cancer (odds ratio [OR], 0.1; 95% CI, 0.1 to 0.6) or indeterminate genetic test results (OR, 0.2; 95% CI, 0.1 to 0.6) were significantly less likely to estimate their CRC risk as increased. Conclusion Patients at risk for Lynch syndrome with an indeterminate genetic test result may be falsely reassured. It is important that health care providers continue to discuss the implications of uninformative results on lifetime cancer risk.

Sign in / Sign up

Export Citation Format

Share Document