Population-Based, Risk-Stratified Genetic Testing for Ovarian Cancer Risk: A Focus Group Study

ObjectivePopulation-based risk assessment, using genetic testing and the provision of appropriate risk management, could lead to prevention, early detection and improved clinical management of ovarian cancer (OC). Previous research with mostly white British participants found positive attitudes towards such a programme. The current study aimed to explore the attitudes of South Asian (SA) women and men in the UK with the aim of identifying how best to implement such a programme to minimise distress and maximise uptake.DesignSemistructured qualitative focus group discussions.SettingCommunity centres across North London and Luton.Participants49 women and 13 men who identified as SA (Indian, Pakistani or Bangladeshi), which constitutes the largest non-European ethnic minority group in the UK.MethodsSeven community-based focus groups were held. Group discussions were transcribed verbatim, coded and analysed thematically.ResultsAwareness and knowledge of OC symptoms and specific risk factors was low. The programme was acceptable to most participants and attitudes to it were generally positive. Participants’ main concerns related to receiving a high-risk result following the genetic test. Younger women may be more cautious of genetic testing, screening or risk-reducing surgery due to the importance of marriage and childbearing in their SA cultures.ConclusionsA crucial first step to enable implementation of population-based genetic risk assessment and management in OC is to raise awareness of OC within SA communities. It will be important to engage with the SA community early on in programme implementation to address their specific concerns and to ensure culturally tailored decision support.

Download Full-text

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

Download Full-text

Limitations of direct-to-consumer (DTC) genetic testing for hereditary breast and ovarian cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.10515 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. 10515-10515

Author(s):

Neelam Vijay Desai ◽

Elizabeth Dominic Barrows ◽

Sarah M. Nielsen ◽

Kathryn E. Hatchell ◽

Edward D. Esplin ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Cancer Risk ◽

Clinical Indication ◽

Ovarian Cancer Risk ◽

Cancer Genes ◽

Primary Analysis ◽

Risk Genes ◽

Group 3 ◽

Group 5

10515 Background: With the advent of DTC genetic testing, individuals have access to genetic testing without input from a healthcare professional. DTC testing now exists for the 3 Ashkenazi Jewish (AJ) BRCA1/2 founder variants. DTC testing may provide false reassurance to individuals that they do not carry a pathogenic or likely pathogenic variant (PLPV) in BRCA1/2 or other cancer-risk genes. Methods: Multi-panel genetic testing was performed in 348,692 individuals for a clinical indication of hereditary breast/ovarian cancer (Clinical cohort) and 7,636 self-referred ostensibly healthy individuals (Healthy cohort) by a clinical testing laboratory. The primary analysis evaluated PLPVs for Group 1 genes: BRCA1/2 AJ founder variants and Group 2: full sequence BRCA1/2. Secondary analyses assessed PLPVs in Group 3: high-risk breast cancer genes ( BRCA1/2, CDH1, PALB2, PTEN, STK11, TP53), Group 4: all breast or ovarian cancer-risk genes (Group 3 genes plus ATM, BARD1, BRIP1, truncating CHEK2, EPCAM, MLH1, MSH2/6, NF1, PMS2, RAD51C/D) and Group 5: 41 cancer-risk genes; these analyses were limited to participants who tested for all 41 genes. Potentially mosaic variants were excluded. Results: Table illustrates PLPVs found in both cohorts. The BRCA1/2 AJ founder variants account for only ̃11% (1513/13,987) and ̃30% (19/64) of the BRCA PLPVs in the Clinical and Healthy cohorts, respectively. Even among AJ individuals, testing only for the 3 founder variants will miss ̃10% (52/513) of all BRCA1/2 PLPVs. Evaluating only the BRCA AJ founder variants missed a higher percentage of PLPVs in other cancer-risk genes. Conclusions: The 3 BRCA1/2 AJ founder variants analyzed by DTC testing account for a small fraction of PLPVs in cancer-risk genes in the general population, and miss 10% of BRCA PLPVs even among AJ individuals. Greater public education is needed to dispel the misconception that DTC tests are equivalent to clinical assessment and comprehensive genetic testing. PLPVs identified in Clinical and Healthy Cohorts.[Table: see text]

Download Full-text