scholarly journals A cost analysis of a cancer genetic service model in the UK

2015 ◽  
Author(s):  
Ingrid Slade ◽  
Helen Hanson ◽  
Angela George ◽  
Kelly Kohut ◽  
Ann Strydom ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Genetics ◽  
Genetic Service ◽  
Unaffected Individual ◽  
Brca Testing ◽  
Brca1 And Brca2 ◽  
Gene Testing ◽  
Technological Advances ◽  
Audit Period ◽  
The Uk

Background: Technological advances in DNA sequencing have made gene testing fast and more affordable. Evidence of cost-effectiveness of genetic service models is essential for successful translation, but remain sparse in the literature. In particular there is a lack of cost data related to genetic services. Methods: A detailed micro-costing of 28 pathways relating to breast and/or ovarian cancer and gene testing for the BRCA1 and BRCA2 genes (termed ′BRCA testing′) was carried out. These data were combined with patient-level data from a Royal Marsden Cancer Genetics Service audit during which BRCA testing was offered to individuals at ≥10% risk of having a mutation. Results: The average cost across all pathways was &pound2,222.68 (range &pound376.47- &pound13,531.24). The average pathway cost for a person with cancer was &pound1897.71 compared to &pound2,403.22 for a person without cancer. Of the women seen during audit period, 38% were affected with breast and/or ovarian cancer and 62% were unaffected but concerned about their family history. Conclusion: There is considerable variation in the costs of different gene testing pathways. Improved cost-efficiency could be achieved by increasing the proportion of cancer patients tested, because the pathway cost of an unaffected individual in whom testing has already been performed in a relative with cancer is considerably less.

scholarly journals Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

2016 ◽  
Author(s):  
Angela George ◽  
Daniel Riddell ◽  
Sheila Seal ◽  
Sabrina Talukdar ◽  
Shazia Mahamdallie ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Large Scale ◽  
Brca Mutation ◽  
Genomic Medicine ◽  
Cost Savings ◽  
Brca Testing ◽  
Clinical Genetic ◽  
Gene Testing

SUMMARYBackground:Advances in DNA sequencing have made gene testing fast and affordable, but adaptation of clinical services to capitalise on this for patient benefit has been slow. Ovarian cancer exemplifies limitations of current systems and potential benefits of increased gene testing. Approximately 15% of ovarian cancer patients have a germline mutation in BRCA1 or BRCA2 (collectively termed ‘BRCA’) and this has substantial implications for their personal management and that of their relatives. However, in most countries implementation of BRCA testing in ovarian cancer has been inconsistent and largely unsuccessful.Methods:We developed a mainstream pathway in which BRCA testing was undertaken by cancer team members after 30 minutes online training. Patients with a mutation were sent a genetic appointment with their results. Cascade testing to relatives was performed via standard clinical genetic procedures.Findings:207 women with ovarian cancer were offered gene testing through the mainstream pathway and all accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease including 97% (32/33) women with a mutation. All mutation-positive women and ~3.5 relatives per family have been seen in genetics. Patient and clinician feedback was very positive. >95% found the pathway to be simple and effective. The pathway offers considerable reduction in time (~5-fold) and resource requirements (~13-fold) compared to the traditional genetic pathway. We estimate it would deliver £2.6M NHS cost savings per year, and would allow implementation of national testing recommendations with existing infrastructure.Interpretation:Mainstream genetic testing is effective, efficient and patient-centred and offers a mechanism for large-scale implementation of BRCA gene testing in cancer patients. The principles could be applied in many other countries and to many other areas of genomic medicine.

Attitudes, Knowledge, and Risk Perceptions of Women With Breast and/or Ovarian Cancer Considering Testing for BRCA1 and BRCA2

1999 ◽  
Vol 17 (3) ◽  
pp. 1040-1040 ◽  
Author(s):  
Leslie G. Bluman ◽  
Barbara K. Rimer ◽  
Donald A. Berry ◽  
Nancy Borstelmann ◽  
J. Dirk Iglehart ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Risk Perceptions ◽  
Risk Model ◽  
Cancer Genetics ◽  
Brca2 Mutation ◽  
Gene Mutations ◽  
Brca1 And Brca2 ◽  
Perceptions Of Risk ◽  
High Risk Women ◽  
Brca1 Brca2

PURPOSE: This study examined baseline knowledge, beliefs, and risk perceptions among a group of 200 women with breast and/or ovarian cancer who participated in a trial designed to improve decision making about genetic testing for BRCA1 and BRCA2. PATIENTS AND METHODS: Women were identified by self-referral, physician referral, and tumor registry extraction and invited to participate in a randomized trial in which testing for BRCA1 and BRCA2 was offered free of charge. Subjects completed baseline questionnaires and interviews that assessed knowledge, attitudes, and perceptions of risk of having an alteration in BRCA1 or BRCA2. RESULTS: Sixty percent of women overestimated their chances of having a BRCA1 or BRCA2 mutation compared with estimates from a BRCA1/BRCA2 risk model. Women who have at least three relatives with breast or ovarian cancer were one third (95% confidence interval, 0.2 to 0.6) as likely to overestimate their risk of having a BRCA1 or BRCA2 mutation compared with women who have two or fewer affected relatives. Knowledge was limited about BRCA1 and BRCA2 mutations and cancer risk associated with gene mutations. Eighty-four percent of the women indicated a probable or definite interest in testing. CONCLUSION: A high proportion of the high-risk women in this study had knowledge deficits about BRCA1 and BRCA2 and overestimated their risk of having a mutation. Although some degree of caution should be used in generalizing the results of this study to practice settings, the data provide insight into the challenges clinicians will face in communicating with patients about cancer genetics.

An unaffected individual from a breast/ovarian cancer family with germline mutations in both BRCA1 and BRCA2

2000 ◽  
Vol 57 (1) ◽  
pp. 70-73 ◽  
Author(s):  
Roxana Moslehi ◽  
Donna Russo ◽  
Catherine Phelan ◽  
Elaine Jack ◽  
Karen Antman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Germline Mutations ◽  
Unaffected Individual ◽  
Brca1 And Brca2 ◽  
Cancer Family ◽  
Ovarian Cancer Family

scholarly journals Identifying and testing for hereditary susceptibility to breast/ovarian cancer in Serbia: Where are we now?

2006 ◽  
Vol 14 (3-4) ◽  
pp. 131-135
Author(s):  
Mirjana Brankovic-Magic ◽  
Jelena Dobricic ◽  
Radmila Jankovic ◽  
Irene Konstantopoulou ◽  
Drakoulis Yannoukakos ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca Mutation ◽  
Brca1 Gene ◽  
Ovarian Cancer Risk ◽  
Breast Cancers ◽  
Brca Testing ◽  
Coding Region ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Polymorphic Variants

About 90% of all breast cancers can be considered as sporadic, without inherited gene alteration. The rest of breast cancers (about 5 to 10%) are considered hereditary, most commonly caused by alterations of BRCA1/2 tumor suppressor genes. Lifetime risks for breast and ovarian cancers are increased among BRCA1/2 mutation carriers - 4 to 8 and 10 to 20 fold higher respectively. Due to the small proportion of hereditary form of disease, as well as to the high cost, BRCA testing is not screening test for general population. It is addressed to selected part of population that fit to recommended criteria. Full coding region sequencing of both genes is "gold standard" for detection of BRCA mutation. Concerning BRCA testing in Serbia, complete or partial sequencing of BRCA1/2 coding region was performed in 60 samples. The presence of 4 BRCA1 known mutations, previously detected elsewhere, has been shown: 185delAG, C61G, 3447del4 and 5382insC (detected twice). In BRCA1 gene, exon 16, an unclassified variant M1652I was found. Polymorphic variants in BRCA1 (8 polymorphisms) and BRCA2 (5 polymorphisms) genes were also detected. The majority of found BRCA1 and BRCA2 polymorphic variants are the missense ones and their influence on breast/ovarian cancer risk in our population has to be proved. Identification of BRCA mutations carriers and establishment of spectra and frequency of BRCA mutations should enable introduction of BRCA1/2 testing into the clinical practice of Serbia. .

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

2017 ◽  
Vol 145 (1) ◽  
pp. 130-136 ◽  
Author(s):  
Maira Kentwell ◽  
Eryn Dow ◽  
Yoland Antill ◽  
C. David Wrede ◽  
Orla McNally ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Genetics ◽  
Brca Testing

Breast Cancer and Ovarian Cancer Genetics

2005 ◽  
Vol 15 (5) ◽  
pp. 533-545 ◽  
Author(s):  
Richard F. Edlich ◽  
Kathryne L. Winters ◽  
Kant Y. Lin
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Genetics

BRCA1 and BRCA2 mutations in ovarian cancer: Covariation with specific cytogenetic features

2000 ◽  
Vol 10 (4) ◽  
pp. 289-295 ◽  
Author(s):  
A. Koul ◽  
S. Malander ◽  
N. Loman ◽  
T. Pejovic ◽  
S. Heim ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

scholarly journals Chimeric Antigen Receptor Design and Efficacy in Ovarian Cancer Treatment

2021 ◽  
Vol 22 (7) ◽  
pp. 3495
Author(s):  
Katarzyna M. Terlikowska ◽  
Bożena Dobrzycka ◽  
Sławomir J. Terlikowski
Keyword(s):  
Ovarian Cancer ◽  
In Vivo Studies ◽  
Specific Cell ◽  
Cancer Syndrome ◽  
Brca1 And Brca2 ◽  
Cell Surface Antigens ◽  
Extrinsic Factors ◽  
Molecular Therapies ◽  
Targeted Molecular Therapies

Our increased understanding of tumour biology gained over the last few years has led to the development of targeted molecular therapies, e.g., vascular endothelial growth factor A (VEGF-A) antagonists, poly[ADP-ribose] polymerase 1 (PARP1) inhibitors in hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2 mutants), increasing survival and improving the quality of life. However, the majority of ovarian cancer (OC) patients still do not have access to targeted molecular therapies that would be capable of controlling their disease, especially resistant or relapsed. Chimeric antigen receptors (CARs) are recombinant receptor constructs located on T lymphocytes or other immune cells that change its specificity and functions. Therefore, in a search for a successful solid tumour therapy using CARs the specific cell surface antigens identification is crucial. Numerous in vitro and in vivo studies, as well as studies on humans, prove that targeting overexpressed molecules, such as mucin 16 (MUC16), annexin 2 (ANXA2), receptor tyrosine-protein kinase erbB-2 (HER2/neu) causes high tumour cells toxicity and decreased tumour burden. CARs are well tolerated, side effects are minimal and they inhibit disease progression. However, as OC is heterogenic in its nature with high mutation diversity and overexpression of different receptors, there is a need to consider an individual approach to treat this type of cancer. In this publication, we would like to present the history and status of therapies involving the CAR T cells in treatment of OC tumours, suggest potential T cell-intrinsic determinants of response and resistance as well as present extrinsic factors impacting the success of this approach.

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