What women with ovarian cancer think and know about genetic testing

doi:10.1016/j.ygyno.2008.06.016

Gynecologic Oncology

Volume 111, Issue 1, October 2008, Pages 132-136

https://doi.org/10.1016/j.ygyno.2008.06.016 Get rights and content

Abstract

Objectives

Few women with ovarian cancer undergo genetic testing for the Breast and Ovarian Cancer susceptibility genes, BRCA1 and BRCA2. With the prospect of BRCA-directed therapeutics, we investigated ovarian cancer patients' knowledge and willingness to undergo genetic testing.

Methods

All ovarian cancer patients seen in the Gynecology Center of a cancer center and a private clinic were asked to complete an anonymous questionnaire regarding knowledge and willingness to undergo BRCA testing. Women who had prior genetic testing were asked not to participate. Data was analyzed using Fisher's exact test.

Results

Two-hundred and thirty seven ovarian cancer patients voluntarily completed the questionnaire. Fifty-five percent (131/237) of participants had not heard of BRCA testing. Of Caucasian respondents, 51% were unaware of BRCA testing, compared to 70% of Hispanic and 88% of African American respondents (p = 0.008). Awareness was correlated with education (p < 0.001). Eighty-nine percent of participants were willing to be tested if it would directly affect their therapy and 86.9% would be tested to benefit their family. Seventy-four percent of patients would pay 20% of the cost of testing, only 25.1% would pay in full.

Conclusions

A majority of women with ovarian cancer are not aware of the availability of BRCA testing. This lack of awareness is more profound in minorities. Despite lack of knowledge, most patients would undergo testing if it would impact their care. However, cost may be a barrier. Given the willingness of patients to undergo testing and the possibility of targeted therapy, clinicians who care for these patients should work to make appropriate genetic counseling referrals.

Section snippets

Background

Epithelial ovarian cancer is the leading cause of death from gynecologic cancer in the United States [1]. It is estimated that there will be 21,650 new cases of ovarian cancer in the United States in 2008 with 15,520 deaths from ovarian cancer this year [2]. Prognosis for ovarian cancer patients is dismal, as disease is most often diagnosed at an advanced stage with a 53% median five-year survival [1].

The overall prevalence of BRCA mutations in patients with invasive ovarian cancer has been

Materials and methods

After obtaining approval for the protocol and questionnaire from the M.D. Anderson Cancer Center Institutional Review Board, an anonymous survey was provided to all ovarian cancer patients at the M.D. Anderson Gynecology Center and at a private clinic in Houston, in 2007. The self-administered survey included an information page which provided a simple explanation of the genetics of ovarian cancer, questions to obtain information regarding race, religion and education, as well as eleven yes or

Patients

Of the 552 eligible patients with ovarian cancer seen during the study period, 237 of these women completed the survey (Table 2). The majority of participants (64.6%) were Caucasian. Eight percent were African American and 11.8% were Hispanic. Another 8% of the participants considered themselves to be Asian or American Indian, and are included in the “Other” category for statistical purposes. A majority of participants considered themselves to be Protestant (51%) and thirty percent considered

Discussion

From this study, we conclude that a majority of women with ovarian cancer are not aware of the availability of testing for BRCA and this lack of awareness is more profound in minorities. Level of education impacted both knowledge of the availability of genetic testing and willingness to pay for genetic testing. Despite this lack of knowledge, most patients would be willing to undergo testing if it would impact their care. That being said, our results suggest that cost may be a barrier to

Conflict of interest statement

The authors declare that there are no conflicts of interest.

Acknowledgments

The authors acknowledge Diana L. Urbauer for assistance in the study design and data analysis and Kristin G. White for assistance in the study concept and data collection.

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Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention
2020, Gynecologic Oncology
Cascade genetic testing (CGT) of hereditary breast and ovarian cancer (HBOC) or Lynch Syndrome (LS) patients’ relatives offers opportunities to prevent cancer, but CGT rates are not well described. We aimed to measure reported disclosure of genetic testing results and CGT rates in these families and evaluate patients’ views of educational media.
Patients with HBOC or LS identified from germline genetic testing at an academic institution between 2011 and 2016 were surveyed regarding disclosure, testing among relatives, and perceptions of educational materials. Medical records and pedigrees provided numbers of total and first-degree relatives.
Of 103 mutation carriers consented, 64 (63%) completed the survey an average of 38 months after receiving genetic testing results. Participants’ mean age was 53 years, and thirty-one (48%) had a cancer diagnosis. The majority (86%) felt extremely or very comfortable sharing health information. Participants disclosed results to 87% of first-degree relatives, but reported that only 40% of first-degree relatives underwent testing. First-degree female relatives had significantly higher CGT rates than first-degree male relatives (59% versus 21%, P < 0.001). Participants with HBOC reported higher CGT rates than those with LS (49% versus 33%, P = 0.02). Participants did not identify any one educational medium as more helpful than the others for disclosing results.
Disclosure rates are high among HBOC and LS mutation carriers, but reported CGT rates are low. Gender- and mutation-specific barriers prevent patients’ family members from undergoing CGT. Future studies should implement materials to address these barriers and improve CGT rates.
Inadequate Rates of BRCA Testing with its Negative Consequences for Women with Epithelial Ovarian Cancer and their Families: an Overview of the Literature
2018, Clinical Oncology
Citation Excerpt :
Consultations by telephone, mailing out buccal swab kits in pre-paid envelopes or testing immediately after in-person counselling and only reviewing in person those with mutations are possible solutions [87–90]. Ethnicity also had an impact, with lower referral rates in the USA of African-Americans and also in those with lower educational levels [75,76,79,80,91]. Patients, outside of geographical access issues, do not seem to be a major barrier, providing they are fully informed.
Fifteen per cent of women with epithelial ovarian cancer possess inherited mutations in the BRCA genes. Knowledge of her BRCA status is important to her and her family. Poly(ADP-ribose) polymerase (PARP) inhibitors provide a new therapeutic option for her. For her family it provides the opportunity for the prevention of what otherwise is often a lethal disease. To access these opportunities, the mandatory first step is testing the woman with the cancer. However, referral rates for genetic counselling and subsequent BRCA testing are low, in the of 10–30% range. The current paradigm needs the patient to be referred to genetics, be counselled and then undergo testing. Such an ad hoc process will never be 100% successful. Removing the human element by using reflex tumour testing as part of the routine pathological analysis is an obvious solution. Now 100% of women carrying mutations will be identified. Subsequent testing within the family would identify all the carriers, who would then be eligible for risk-reducing surgery. The current process for this is also flawed, with significant drop off at each stage, as it involves the woman with epithelial ovarian carcinoma and a mutation providing the information to her family who then in turn need to be referred or make an appointment for genetic counselling/testing and then, finally, if carrying the mutation, make a decision about risk-reducing surgery. Process improvements and education can help to diminish these roadblocks. The relevant available literature has been reviewed in order to provide an extensive overview of this broad topic with actual rates of counselling/testing at each step, the uptake of risk-reducing surgery and some solutions to make the process more effective. The value of PARP inhibitors and surgical prevention are also discussed, but in a more condensed format.
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome
2018, Patient Education and Counseling
The aim of the current study was to explore barriers to genetic counseling and testing in women with gynecological cancers deemed at significant risk of carrying a germline mutation.
A qualitative study using semi-structured interviews and inductively analysed thematically. Eight patients with ovarian or endometrial cancer participated in individual semi-structured telephone interviews that assessed motivation for genetic counseling and testing, perceived benefits and barriers, timing of the approach, perceptions of the referral process to genetic services and locus of control in relation to cancer and health.
Analysis of the interview transcripts revealed five themes relating to perceptions of genetic counseling and testing: Lack of importance; Level of information received; Timing of referral processes; Fear and anxiety; Resistance to and perceptions of counseling.
Participants had a limited understanding of hereditary cancer syndromes and did not appreciate the benefits of genetic testing. A consistent approach at the time of referral to genetic services is needed to ensure that the level and format of information is appropriate for patients.
The rationale for genetic testing needs to be better explained to patients and the timing of referral should be based both on treatment priorities and patient preferences.
Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis
2018, Gynecologic Oncology
To increase genetic counseling referrals for patients with newly diagnosed epithelial ovarian cancer (EOC).
A practice-gap analysis was performed after measuring baseline genetic counseling referral rates to identify barriers to referral from the multidisciplinary single institution EOC care group. A Genetics Referral Toolkit consisting of a referral template, a genetic risk checklist, family history worksheet and provider and patient awareness was developed to address identified gaps with the goal of increasing referral rates. Clinical characteristics, referral placement, completion of genetic counseling/testing were abstracted for a historic cohort and intervention cohort. Data for the two cohorts were compared using chi-square, Fisher's exact test, or t-test. Association with referral was determined by univariate logistic regression.
Eighty one patients from July through December 2013 (historic cohort) and 62 patients from July through December 2015 (intervention cohort) were identified as having a new diagnosis of EOC. Among these women, genetic counseling referral rates increased from 48.1% (39/81) in 2013 to 74.2% (46/62) in 2015 (p = 0.002) after implementation of the toolkit. In a subset of patients without a previous genetic counseling referral, 87.9% (29/33) completed counseling and 79.3% (23/29) pursued testing from the historic cohort. In the intervention cohort, 60% (24/40) were seen for counseling and 100% (24/24) had testing.
Application of a quality improvement process to create a Genetics Referral Toolkit increased the genetic counseling referral rate in patients with a new diagnosis of EOC. The majority of patients who were referred completed genetics consultation and elected genetic testing.
Video-assisted genetic counseling in patients with ovarian, fallopian and peritoneal carcinoma
2016, Gynecologic Oncology
To compare the proportion of patients with ovarian, fallopian or peritoneal carcinoma who receive genetic testing after observing a genetic counseling video versus after traditional referral for genetic counseling and testing at physician discretion.
A retrospective chart review was performed of all patients seen at the West Cancer Center for evaluation of ovarian, fallopian or peritoneal carcinoma from 7/2014 to 8/2015. Patients seen between 7/2014 and 12/2014 were offered standard genetic counseling. We adopted a new standard of care from 3/2015 to 8/2015 involving the use of a genetic counseling video on a digital tablet. The video was shown to patients with ovarian, fallopian or peritoneal cancer, who were then given the option to undergo genetic testing at the end of the viewing. We compared the number and proportion of patients who received genetic testing in both groups.
The initial group of 267 patients received referral and te\sting at the physician's discretion between 8/2014 and 12/2014. 77/267 (29%) of these patients underwent genetic testing. 295 patients viewed the condensed genetic counseling video with the option to receive testing the same day between 3/2015 and 8/2015. 162/295 (55%) of these patients received testing. The transition from a referral method to the video counseling method resulted in a significant increase of patients tested (p < 0.001).
Using a genetic counseling video and providing an immediate option for testing significantly increased the proportion of patients with ovarian, fallopian or peritoneal carcinoma who received genetic testing.
Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review
2016, European Journal of Cancer
The presence of a germline BRCA1/2 mutation improves options for tailored risk-reducing strategies and treatment in both breast and ovarian cancer patients and their relatives. Currently, referral for germline BRCA1/2 mutation testing of women with epithelial ovarian cancer (EOC) varies widely, based on different criteria, such as age of onset, family history of breast and/or ovarian cancer and histological type of EOC. The overall probability of a germline BRCA1/2 mutation in women with EOC is above 10%, and a substantial part of the germline BRCA1/2 mutation carriers is missed when applying these criteria for referral. Therefore, we strongly recommend referral of all women with EOC for genetic counselling and DNA analysis.

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View full text

What women with ovarian cancer think and know about genetic testing

Abstract

Objectives

Methods

Results

Conclusions

Section snippets

Background

Materials and methods

Patients

Discussion

Conflict of interest statement

Acknowledgments

Am J Hum Genet

Gynecol Oncol

Genet Med

Epithelial ovarian cancer

Cancer statistics, 2008

CA Cancer J Clin

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases

Cancer

Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition

Cancer Res

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

Nature