Mainstreaming cancer genetics: A model integrating germline  BRCA  testing into routine ovarian cancer clinics

Kentwell, Maira; Dow, Eryn; Antill, Yoland; Wrede, C. David; McNally, Orla; Higgs, Emily; Hamilton, Anne; Ananda, Sumitra; Lindeman, Geoffrey J.; Scott, Clare L.

doi:10.1016/j.ygyno.2017.01.030

Cited by 100 publications

(95 citation statements)

References 19 publications

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“…The proportion of patients satisfied with pre-test genetic counseling was high (>96%), irrespective of who provided the g BRCA test information. These results indicate that trained clinicians, cancer specialists, and other health professionals can effectively conduct pre-test genetic counseling in a dedicated setting 25. Given that the pre-test genetic counseling framework is undergoing further development in Japan, the best option might be to provide genetic counseling through multidisciplinary collaboration among different healthcare professionals.…”

Section: Discussionmentioning

confidence: 95%

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)

Enomoto

Aoki

Hattori

et al. 2019

International Journal of Gynecological Cancer

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Introduction BRCA 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 (gB RCA) 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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Section: Discussionmentioning

confidence: 95%

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)

Enomoto

Aoki

Hattori

et al. 2019

International Journal of Gynecological Cancer

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“…Embedding genetic counsellors into gynaecologic oncology clinics is another effective way to increase genetics referral rates and improve the coordination of patient appointments. In one Australian centre, average referral rates improved from 54% to 85%, reaching 97% in the second year following implementation, and average counselling time decreased from 120 to 54 min 37. A similar process at a large academic centre in the USA improved referral rates from 21% to 44% and decreased the average time from referral to genetic counselling from 2.52 to 1.67 months 45…”

Section: National Priorities To Improve Assessment and Testing For Almentioning

confidence: 99%

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

et al. 2018

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The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2-related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2-associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.

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“…Given the current demand on genetic services and the growing availability of targeted therapies for mutation carriers, efforts have been made to facilitate the translation of genetics to mainstream clinical environments to ensure equitable access to genetic testing [20]. This often involves the provision of pre-test information and counselling by a nongenetic provider [20].…”

Section: Discussionmentioning

confidence: 99%

“…This often involves the provision of pre-test information and counselling by a nongenetic provider [20]. Although in its infancy, mainstreaming within the oncology setting provides a model by which genetics can be integrated within the palliative setting.…”

Section: Discussionmentioning

confidence: 99%

“…In the UK, oncology health professionals (consultants, trainees and nurses) completed an educational training package, which enabled them to counsel and consent ovarian cancer patients for BRCA1 and BRCA2 genetic testing [35]. This has improved access to genetic testing and has been deemed by both patients and providers an acceptable alternative to traditional models of genetic service delivery [20,35].…”

Section: Discussionmentioning

confidence: 99%

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Genetics in palliative oncology: a missing agenda? A review of the literature and future directions

Morrow

Jacobs

Best

et al. 2017

Support Care Cancer

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Purpose In the palliative oncology setting, genetic assessment may not impact on the patient's management but can be of vital importance to their surviving relatives. Despite care of the family being central to the ethos of palliative care, little is known about how hereditary aspects of cancer are addressed in this setting. This review aims to examine current practices, identify practice barriers and determine the genetic information and support needs of patients, family members and health providers. Methods Key databases were systematically searched to identify both quantitative and qualitative studies that addressed these aims. Data was extracted and coded using thematic analysis. Results Eight studies were included for review. Suboptimal genetic practices were identified, with lack of knowledge and poor confidence amongst providers reported as barriers in both qualitative and quantitative studies. Providers expressed concern about the emotional impact of initiating these discussions late in the disease trajectory; however, qualitative interviews amongst palliative patients suggested there may be emotional benefits. Conclusions All lines of evidence suggest that genetics is currently missing from the palliative agenda, signifying lost opportunities for mutation detection, genetic counselling and appropriate risk management for surviving relatives. There is an urgent need for interventions to improve provider knowledge and awareness of genetic referral pathways and for research into the genetic information and support needs of palliative care patients.

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Mainstreaming cancer genetics: A model integrating germline BRCA testing into routine ovarian cancer clinics

Cited by 100 publications

References 19 publications

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)

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)

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Genetics in palliative oncology: a missing agenda? A review of the literature and future directions

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