Highlights
- •Facilitated referral to genetic counselors resulted in high uptake of genetic counseling and testing.
- •Genetics referral at time of ovarian cancer diagnosis did not demonstrate a long term psychologic toll.
- •Despite leveling of financial barriers, patients at the public hospital were less likely to present for genetic counseling.
- •Ashkenazi Jewish patients reported higher levels of stress, anxiety and depression at time of genetic counseling.
Abstract
Background
Timely genetic testing at ovarian cancer diagnosis is essential as results impact
front line treatment decisions. Our objective was to determine rates of genetic counseling
and testing with an expedited genetics referral pathway wherein women with newly-diagnosed
ovarian cancer are contacted by a genetics navigator to facilitate genetic counseling.
Methods
Patients were referred for genetic counseling by their gynecologic oncologist, contacted
by a genetics navigator and offered appointments for genetic counseling. Patients
completed quality of life (QoL) surveys immediately pre- and post-genetic assessment
and 6 months later. The primary outcome was feasibility of this pathway defined by
presentation for genetic counseling.
Results
From 2015 to 2018, 100 patients were enrolled. Seventy-eight had genetic counseling
and 73 testing. Median time from diagnosis to genetic counseling was 34 days (range
10–189). Among patients who underwent testing, 12 (16%) had pathogenic germline mutations
(BRCA1-7, BRCA2-4, MSH2-1). Sixty-five patients completed QoL assessments demonstrating stress and anxiety
at time of testing, however, scores improved at 6 months. Despite the pathway leveling
financial and logistical barriers, patients receiving care at a public hospital were
less likely to present for genetic counseling compared to private hospital patients
(56% versus 84%, P = 0.021).
Conclusions
Facilitated referral to genetic counselors at time of ovarian cancer diagnosis is
effective, resulting in high uptake of genetic counseling and testing, and does not
demonstrate a long term psychologic toll. Concern about causing additional emotional
distress should not deter clinicians from early genetics referral as genetic testing
can yield important prognostic and therapeutic information.
Keywords
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References
- Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.Proc. Natl. Acad. Sci. U. S. A. 2011; 108: 18032-18037
- Multi-disciplinary summit on genetics services for women with gynecologic cancers: a Society of Gynecologic Oncology white paper.Gynecol. Oncol. 2017; 146: 217-224
- American Society of Clinical Oncology expert statement: collection and use of a cancer family history for oncology providers.J. Clin. Oncol. 2014; 32: 833-840
- Society of Gynecologic Oncology. Practice bulletin no 182: hereditary breast and ovarian cancer syndrome.Obstet. Gynecol. 2017; 130 (e110-e26)
- NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Genetic/Familial High-risk Assessment: Breast and Ovarian Version 2.2019. 2018
- Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer.N. Engl. J. Med. 2018; 379: 2495-2505
- Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.Gynecol. Oncol. 2015; 138: 109-114
- Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?.Int. J. Gynecol. Cancer. 2013; 23: 431-436
- Genetic risk assessment for women with epithelial ovarian cancer: referral patterns and outcomes in a university gynecologic oncology clinic.J. Genet. Couns. 2013; 22: 662-673
- Keeping it simple: genetics referrals for all invasive serous ovarian cancers.Gynecol. Oncol. 2013; 130: 329-333
- Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities.Obstet. Gynecol. 2010; 115: 945-952
- Underuse of BRCA testing in patients with breast and ovarian cancer.Am. J. Obstet. Gynecol. 2016; 214: 761-763
- National estimates of genetic testing in women with a history of breast or ovarian cancer.J. Clin. Oncol. 2017; 35: 3800-3806
- Implementation of a quality improvement project for universal genetic testing in women with ovarian cancer.Gynecol. Oncol. 2018; 149: 565-569
- Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.Gynecol. Oncol. 2018; 149: 121-126
- Disparities in genetics assessment for women with ovarian cancer: can we do better?.Gynecol. Oncol. 2018; 149: 84-88
- Disparities in gynecologic cancer genetics evaluation.Gynecol. Oncol. 2019; 153: 184-191
- Impact of event scale: a measure of subjective stress.Psychosom. Med. 1979; 41: 209-218
- Manual for the State-Trait Anxiety Inventory (Form Y).Consulting Psychologists Press, Inc., 1983
- The hospital anxiety and depression scale.Acta Psychiatr. Scand. 1983; 67: 361-370
- National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines. Genetic/Familial High-risk Assessment: Breast and Ovarian.2007
- Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions.Gynecol. Oncol. 2015; 136: 3-7
- Prevention for those who can pay: insurance reimbursement of genetic-based preventive interventions in the liminal state between health and disease.J. Law Biosci. 2015; 2: 365-395
- Patient navigators for people with chronic disease: a systematic review.PLoS One. 2018; 13e0191980
- Increasing utilization of cancer genetic counseling services using a patient navigator model.J. Genet. Couns. 2007; 16: 171-177
- Prospective feasibility trial of a novel strategy of facilitated cascade genetic testing using telephone counseling.J. Clin. Oncol. 2020; ([Epub ahead of print] PubMed PMID: 31922918)https://doi.org/10.1200/JCO.19.02005
- Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer.Familial Cancer. 2008; 7: 245-254
- A review of psychosocial needs of breast-cancer patients and their relatives.J. Clin. Nurs. 2008; 17: 2895-2909
- Are we being overly cautious? A qualitative inquiry into the experiences and perceptions of treatment-focused germline BRCA genetic testing amongst women recently diagnosed with breast cancer.Support Care Cancer. 2012; 20: 2949-2958
- Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40.Eur. J. Cancer Care (Engl.). 2005; 14: 272-281
- A literature review of the psychological impact of genetic testing on breast cancer patients.Patient Educ. Couns. 2006; 62: 13-20
- Psychological distress, anxiety, and depression of cancer-affected BRCA1/2 mutation carriers: a systematic review.J. Genet. Couns. 2016; 25: 880-891
- Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.Science. 2003; 302: 643-646
- BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer.Am. J. Hum. Genet. 2000; 66: 1259-1272
- The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.Am. J. Hum. Genet. 1999; 64: 963-970
- The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data.Cancer. 2001; 92: 440-445
- Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.Familial Cancer. 2016; 15: 529-539
- Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.J. Clin. Oncol. 2014; 32: 618-626
- Models of service delivery for cancer genetic risk assessment and counseling.J. Genet. Couns. 2014; 23: 239-253
- Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations.J. Med. Genet. 2016; 53: 472-480
- Stand up to Cancer: MAGENTA (Making Genetic Testing Accessible). ClinicalTrials.gov, 2019
- Evaluation of a streamlined oncologist-led BRCA mutation testing and counseling model for patients with ovarian cancer.J. Clin. Oncol. 2018; 36: 1300-1307
- Homologous recombination deficiency (HRD) testing in ovarian cancer clinical practice: a review of the literature.Gynecol. Oncol. Res. Pract. 2017; 4: 4
- The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine.Am. J. Med. Genet. C: Semin. Med. Genet. 2018; 178: 24-37
Article info
Publication history
Published online: February 11, 2020
Accepted:
January 2,
2020
Received in revised form:
December 3,
2019
Received:
September 25,
2019
Identification
Copyright
© 2020 Published by Elsevier Inc.
