The impact of the medicare benefits schedule on genetic testing in hereditary breast and ovarian cancer: An audit of test request practices in Western Australia

Multigene panel testing for hereditary cancer risk has recently become commercially available; however, the impact of its use on patient care is undefined. We sought to evaluate results from implementation of panel testing in a multidisciplinary cancer center. We performed a retrospective review of consecutive patients undergoing genetic testing after initiating use of multigene panel testing at Loma Linda University Medical Center. From February 13 to August 25, 2014, 92 patients were referred for genetic testing based on National Comprehensive Cancer Network guidelines. Testing was completed in 90 patients. Overall, nine (10%) pathogenic mutations were identified: five BRCA1/2, and four in non-BRCA loci. Single-site testing identified one BRCA1 and one BRCA2 mutation. The remaining mutations were identified by use of panel testing for hereditary breast and ovarian cancer. There were 40 variants of uncertain significance identified in 34 patients. The use of panel testing more than doubled the identification rate of clinically significant pathogenic mutations that would have been missed with BRCA testing alone. The large number of variants of uncertain significance identified will require long-term follow-up for potential reclassification. Multigene panel testing provides additional information that may improve patient outcomes.

Download Full-text

Evaluating the impact of an artificial intelligence tool: Improving high-risk patient identification for hereditary breast and ovarian cancer genetic testing

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(21)00162-1 ◽

2021 ◽

Vol 132 ◽

pp. S52-S53

Author(s):

Melissa Maisenbacher ◽

Kathryn Young ◽

Asaf Sadowsky ◽

Paul Billings ◽

Sheetal Parmar

Keyword(s):

Artificial Intelligence ◽

Ovarian Cancer ◽

Genetic Testing ◽

High Risk ◽

High Risk Patient ◽

Risk Patient ◽

Cancer Genetic ◽

Patient Identification ◽

Breast And Ovarian Cancer ◽

The Impact

Download Full-text

The impact of Angelina Jolie's (AJ) story on genetic referral and testing at an academic cancer centre.

Journal of Clinical Oncology ◽

10.1200/jco.2014.32.26_suppl.44 ◽

2014 ◽

Vol 32 (26_suppl) ◽

pp. 44-44 ◽

Cited By ~ 5

Author(s):

Jacques Raphael ◽

Sunil Verma ◽

Paul Hewitt ◽

Andrea Eisen

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Genetic Counseling ◽

Genetic Testing ◽

Breast And Ovarian Cancer ◽

Before And After ◽

History Of ◽

The Media ◽

The Impact

44 Background: In May 2013, AJ revealed to the media that she had undergone preventive double mastectomy. The actress had a family history of breast and ovarian cancer and tested positive for the BRCA1 gene mutation. Media coverage has been extensive, but it’s not clear what messages the public and professional medical staff took from this personal story that sometimes could be misleading. Methods: We conducted a retrospective review in our centre using data from the clinical database of the Familial Cancer Program in a tertiary care cancer centre. The impact of AJ’s story on genetic counseling referrals was assessed by comparing the number of referrals made 6 months before and after the story. In addition, the quality of referrals was reported by comparing the number of patients who qualified for genetic testing as defined by the Ontario Ministry of Health and Long Term Care and the ones who carried a BRCA1/2 mutation before and after the media release. Results: The number of women referred for genetic counseling increased by 85% after the release of AJ’s story (479 before versus 887 after). This translated to an increase of 99% in the number of women who qualified for a genetic testing (211 before versus 419 after). Among them, 120 and 254 women had a history of breast and ovarian cancer in their family, 16 and 37 women had a history of male breast cancer in their family, and 28 and 15 women were diagnosed with breast cancer at the age of 35 or less before and after AJ’s story respectively. Furthermore, the number of BRCA1/2 carriers identified increased by 107% (29 (14 BRCA1, 15 BRCA2) before and 60 (32 BRCA1, 28 BRCA2) after). Conclusions: This study clearly shows that the number of genetic referrals doubled after AJ’s story. Nevertheless, the quality of referral remained the same with nearly the same percentage of patients who qualified for genetic testing and who were identified as BRCA1/2 carriers. The challenge is to meet the increased demand for cancer genetic services including screening, counseling, testing, and preventive surgery. After AJ’s story the current model of genetic counseling may need to be revisited.

Download Full-text

Identification of the best index case significantly improves mutation detection rates in families with hereditary breast and ovarian cancer

10.1101/527168 ◽

2019 ◽

Author(s):

Margot J. Wyrwoll ◽

Lea Fuchs ◽

Daniel E.J. Waschk

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Family Member ◽

Detection Rate ◽

Mutation Detection ◽

Index Case ◽

Breast And Ovarian Cancer ◽

Genetic Analyses ◽

Group A ◽

The Impact

AbstractTo date, a disease-causing mutation can be found in 15-30% of families with hereditary breast and ovarian cancer (HBOC) and it is believed that more than half of the cases still remain unsolved. Usually it is intended to perform genetic analyses in the family member with the most severe phenotype, which, however, may not always be possible. Moreover, no standard criteria have been established to define the person who is most suitable for genetic testing within a family: ‘the best index case’. We therefore established clinical criteria to identify the best index case in HBOC and analyzed the impact on genetic testing. 130 patients who presented at our department from 2016 to 2018 were divided into two groups. In group A (N = 98) genetic analyses were performed in the best index case based on our criteria. In group B (N = 32) at least one other family member was considered a better index case. The detection rate of expected mutations was significantly higher for group A (64.3% vs. 32.0%, p = 0.034) while there was no significant difference of calculated mutation carrier risks between these groups. We conclude that the mutation detection rate in families with HBOC is notably higher after identifying the best index case for genetic testing according to the clinical selection criteria reported here.

Download Full-text

Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer

International Journal of Gynecological Cancer ◽

10.1097/igc.0000000000001122 ◽

2018 ◽

Vol 28 (1) ◽

pp. 26-33 ◽

Cited By ~ 6

Author(s):

J. Brian Szender ◽

Jasmine Kaur ◽

Katherine Clayback ◽

Mollie L. Hutton ◽

June Mikkelson ◽

...

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Genetic Counseling ◽

Genetic Testing ◽

Confidence Interval ◽

Categorical Variables ◽

Breast And Ovarian Cancer ◽

Clinical Genetic ◽

Patients At Risk ◽

The Impact

ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.

Download Full-text