A randomized trial of a breast/ovarian cancer genetic testing decision aid used as a communication aid during genetic counseling

Approximately 10% of all breast cancers are due to hereditary factors, with the majority caused by mutations in two autosomal dominant breast cancer genes, BRCA1 and BRCA2. Mutations in these genes are associated with cumulative risks of breast cancer of 72% in BRCA1 mutation carriers and 69% in BRCA2 mutation carriers by age 80. Mutation carriers who develop breast cancer have elevated risk for contralateral breast cancer. BRCA1/2 mutations also place women at elevated risk for ovarian cancer. Genetic counseling and testing are available to individuals, with or without cancer, to inform health-related decision-making. While genetic knowledge offers opportunities for prevention, including prophylactic risk-reducing surgery, a number of psychological and social challenges have been identified in the BRCA1/2 population. This chapter provides a broad overview of seminal research on the psychosocial impacts of genetic testing in BRCA1/2 with the goal of helping readers better identify, evaluate, and treat psychosocial challenges stemming from the process of genetic testing. Identifiable risk factors for psychosocial distress during the genetic counseling process are summarized. The chapter points toward key psychometric instruments designed to support psychosocial screening in cancer genetic populations. Further, a summary of intervention strategies to support psychosocial adaptation to genetic testing is provided.

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The first Japanese nationwide multicenter study of BRCA mutation testing in ovarian cancer: CHARacterizing the cross-sectionaL approach to Ovarian cancer geneTic TEsting of BRCA (CHARLOTTE)

International Journal of Gynecological Cancer ◽

10.1136/ijgc-2019-000384 ◽

2019 ◽

Vol 29 (6) ◽

pp. 1043-1049 ◽

Cited By ~ 17

Author(s):

Takayuki Enomoto ◽

Daisuke Aoki ◽

Kana Hattori ◽

Masahisa Jinushi ◽

Junzo Kigawa ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Counseling ◽

Genetic Testing ◽

Serous Carcinoma ◽

High Grade ◽

Cancer Genetic ◽

Cross Sectional ◽

Cancer Data ◽

Increased Risk ◽

The Cross

IntroductionBRCA gene mutations are associated with hereditary ovarian cancer. BRCA plays a key role in genome integrity, and mutations result in an increased risk for ovarian cancer. Although various guidelines recommend BRCA testing in patients with ovarian cancer, data on germline BRCA (gBRCA) mutation frequency in ovarian cancer in Japan are scarce.ObjectiveThis study aimed to determine gBRCA1/2 mutations in Japanese patients with ovarian cancer, stratified by clinicopathological characteristics, and to assess patients’ satisfaction with pre-test genetic counseling.MethodsThe CHARLOTTE study (CHARacterizing the cross-sectionaL approach to Ovarian cancer: geneTic TEsting of BRCA; UMIN000025597) is the first large multicenter epidemiological survey of Japanese women, aged ≥20, with newly diagnosed ovarian cancer (epithelial, primary peritoneal, or fallopian tube cancer), with histologically confirmed specimens. Patients were enrolled sequentially and underwent pre-test genetic counseling for BRCA testing. Blood samples were centrally tested for the presence or absence of known gBRCA mutations. A questionnaire was used to assess patient satisfaction with pre-test genetic counseling.ResultsA total of 634 patients with a mean age of 56.9 years were included. Most patients (84.2%) had epithelial ovarian cancer, and 51.1% had FIGO stage III–IV cancer. Nearly all patients (99.5%) received genetic counseling before the BRCA testing, either by an obstetrician-gynecologist (42.0%) or a clinical geneticist (42.0%). The overall prevalence of gBRCA1/2 mutations was 14.7% (93/634), with gBRCA1 mutations (9.9%) more common than gBRCA2 mutations (4.7%). High-grade serous carcinoma showed a prevalence of gBRCA mutations of 28.5%. Most patients were satisfied with pre-test counseling, irrespective of the service provider’s professional position.DiscussionPatients with high-grade serous carcinoma and family history of ovarian cancer had a slightly higher prevalence of gBRCA mutations, but none of the subgroups had considerably high gBRCA mutation prevalence. These data suggest that gBRCA testing should be carried out in all patients with ovarian cancer.

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Identification and management of familial breast cancer in Austria

Hormone Molecular Biology and Clinical Investigation ◽

10.1515/hmbci-2017-0025 ◽

2017 ◽

Vol 32 (2) ◽

Cited By ~ 1

Author(s):

Christian F. Singer ◽

Yen Y. Tan ◽

Christine Rappaport

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Genetic Counseling ◽

Genetic Testing ◽

Familial Breast Cancer ◽

Prophylactic Surgery ◽

Management Options ◽

Counseling And Testing ◽

Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

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A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk

Breast Cancer Research and Treatment ◽

10.1007/s10549-007-9539-2 ◽

2007 ◽

Vol 107 (2) ◽

pp. 289-301 ◽

Cited By ~ 51

Author(s):

Claire E. Wakefield ◽

Bettina Meiser ◽

Judi Homewood ◽

Michelle Peate ◽

Alan Taylor ◽

...

Keyword(s):

Ovarian Cancer ◽

Randomized Controlled Trial ◽

Genetic Testing ◽

Cancer Risk ◽

Decision Aid ◽

Controlled Trial ◽

Ovarian Cancer Risk ◽

Breast And Ovarian Cancer ◽

Randomized Controlled

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The effect of referral for genetic counseling on genetic testing and surgical prevention in women at high risk for ovarian cancer: Results from a randomized controlled trial

Cancer ◽

10.1002/cncr.30190 ◽

2016 ◽

Vol 122 (22) ◽

pp. 3509-3518 ◽

Cited By ~ 4

Author(s):

Charles W. Drescher ◽

J. David Beatty ◽

Robert Resta ◽

M. Robyn Andersen ◽

Kate Watabayashi ◽

...

Keyword(s):

Ovarian Cancer ◽

Randomized Controlled Trial ◽

Genetic Counseling ◽

Genetic Testing ◽

High Risk ◽

Controlled Trial ◽

Randomized Controlled ◽

Surgical Prevention

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Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

Cancers ◽

10.3390/cancers12020338 ◽

2020 ◽

Vol 12 (2) ◽

pp. 338 ◽

Cited By ~ 1

Author(s):

Matthew Richardson ◽

Hae Jung Min ◽

Quan Hong ◽

Katie Compton ◽

Sze Wing Mung ◽

...

Keyword(s):

Ovarian Cancer ◽

Health Care ◽

Genetic Testing ◽

Population Based ◽

Gene Panel ◽

Wait Times ◽

Genetic Counsellor ◽

Care Providers ◽

Cancer Genetic ◽

Breast And Ovarian Cancer

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

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