EP1231 Impact of population genetic testing and ovarian cancer risk stratification on the emotional well-being and health of unselected women in a general population

2019 ◽  
Author(s):  
F Gaba ◽  
X Liu ◽  
D Chandrasekaran ◽  
J Kalsi ◽  
A Antoniou ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
General Population ◽  
Cancer Risk ◽  
Risk Stratification ◽  
Population Genetic ◽  
Well Being ◽  
Ovarian Cancer Risk

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

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]

scholarly journals Women’s intentions to engage in risk-reducing behaviours after receiving personal ovarian cancer risk information: an experimental survey study

2019 ◽  
Author(s):  
Ailish Gallagher ◽  
Jo Waller ◽  
Ranjit Manchanda ◽  
Ian Jacobs ◽  
Saskia Sanderson
Keyword(s):  
Ovarian Cancer ◽  
Cancer Risk ◽  
Risk Stratification ◽  
Perceived Risk ◽  
Lifestyle Factors ◽  
Cancer Risk Assessment ◽  
Survey Study ◽  
Ovarian Cancer Risk ◽  
Risk Reducing ◽  
Experimental Survey

Risk stratification using genetic and/or other types of information could identify women at increased ovarian cancer risk. The aim of this study was to examine women’s potential reactions to ovarian cancer risk stratification. 1,017 women aged 45-75 years took part in an online experimental survey. Women were randomly assigned to one of three experimental conditions describing hypothetical personal results from ovarian cancer risk stratification, and asked to imagine they had received one of three results: (a) 5% risk due to SNPs and lifestyle factors; (b) 10% risk due to SNPs and lifestyle factors; (c) 10% risk due to a rare mutation in BRCA2. 83% of women indicated interest in having ovarian cancer risk assessment. After receiving their hypothetical risk estimates, 29% of women stated they would have risk-reducing surgery. Choosing risk-reducing surgery over other behavioural responses was associated with having higher surgery self-efficacy and perceived response-efficacy, but not with perceptions of disease threat, i.e. perceived risk or severity, or with experimental condition. A substantial proportion of women age 45-75 years may be open to the idea of surgery to reduce risk of ovarian cancer, even if their absolute lifetime risk is only increased to as little as 5 or 10%.

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

2013 ◽  
Vol 16 (4) ◽  
pp. 184-191 ◽  
Author(s):  
S.F. Meisel ◽  
L. Side ◽  
L. Fraser ◽  
S. Gessler ◽  
J. Wardle ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Focus Group ◽  
Cancer Risk ◽  
Population Based ◽  
Ovarian Cancer Risk ◽  
Focus Group Study

scholarly journals Women’s Intentions to Engage in Risk-Reducing Behaviours after Receiving Personal Ovarian Cancer Risk Information: An Experimental Survey Study

Cancers ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 3543
Author(s):  
Ailish Gallagher ◽  
Jo Waller ◽  
Ranjit Manchanda ◽  
Ian Jacobs ◽  
Saskia Sanderson
Keyword(s):  
Ovarian Cancer ◽  
Cancer Risk ◽  
Risk Stratification ◽  
Lifestyle Factors ◽  
Lifetime Risk ◽  
Cancer Risk Assessment ◽  
Survey Study ◽  
Ovarian Cancer Risk ◽  
Risk Reducing ◽  
Experimental Survey

Risk stratification using genetic and/or other types of information could identify women at increased ovarian cancer risk. The aim of this study was to examine women’s potential reactions to ovarian cancer risk stratification. A total of 1017 women aged 45–75 years took part in an online experimental survey. Women were randomly assigned to one of three experimental conditions describing hypothetical personal results from ovarian cancer risk stratification, and asked to imagine they had received one of three results: (a) 5% lifetime risk due to single nucleotide polymorphisms (SNPs) and lifestyle factors; (b) 10% lifetime risk due to SNPs and lifestyle factors; (c) 10% lifetime risk due to a single rare mutation in a gene. Results: 83% of women indicated interest in having ovarian cancer risk assessment. After receiving their hypothetical risk estimates, 29% of women stated they would have risk-reducing surgery. Choosing risk-reducing surgery over other behavioural responses was associated with having higher surgery self-efficacy and perceived response-efficacy, but not with perceptions of disease threat, i.e., perceived risk or severity, or with experimental condition. A substantial proportion of women age 45–75 years may be open to the idea of surgery to reduce risk of ovarian cancer, even if their absolute lifetime risk is only increased to as little as 5 or 10%.

Sign in / Sign up

Export Citation Format

Share Document