eAppendix. Patient Survey
Allison W. Kurian, Kent A. Griffith, Ann S. Hamilton, Kevin C. Ward, Monica Morrow, Steven J. Katz, Reshma Jagsi. Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer. JAMA. 2017;317(5):531–534. doi:10.1001/jama.2016.16918
Germline genetic testing of patients with breast cancer is an important model of how increasingly widespread genomic sequencing can influence treatment decision making. Testing of 2 breast cancer–associated genes, BRCA1 and BRCA2, has been available for 20 years, but new massively parallel sequencing technology and less restrictive patent laws have made multiplex panel tests available at much lower costs.1 Yet little is known about recent patient experience with genetic testing and counseling. Genetic counselors are experts in risk assessment and communication, but because of workforce limitations, some physicians must counsel and test patients without their assistance.2 These challenges motivated this investigation of patients’ use of and perspectives on genetic counseling and testing.
The study was approved by the University of Michigan institutional review board, which waived the requirement for patient consent. Women aged 20 through 79 years, diagnosed with stages 0 to II breast cancer between July 2013 and September 2014, identified by Surveillance Epidemiology and End Results registries of Georgia and Los Angeles County, were mailed surveys (Supplement) 2 months after surgical operation. Survey questions addressed how much patients wanted genetic testing (not at all, a little bit, somewhat, quite a bit, very much: the latter 4 were defined as wanting testing); and whether patients talked about testing with any “doctor or other health professional,” had a session with a genetic counseling expert, or had testing. Cancer family history, ancestry, and clinical information were used to construct a guideline-concordant measure of high pretest risk for mutation carriage.3 A log-linear model was constructed using SAS (SAS Institute), version 9.4, to compute risk ratios, adjusting for covariates (listed in Table 1) and weighted for survey design and nonresponse to identify variables independently associated with failure to receive testing among high-risk patients.
A total of 2529 women (71%) responded to the survey. The mean age was 62 years (SD, 11); 56.8% were white, 17.8% black, and 71.2% had some college education (Table 1). Sixty-six percent (95% CI, 64.2%-68.2%) reported wanting testing and 29.0% (95% CI, 27.1%-30.9%) reported having a test. Thirty-one percent (n = 773; 95% CI, 29.2%-33.1%) of patients had a high pretest mutation risk. Among average-risk patients, 59.3% (95% CI, 56.8%-61.8%) wanted testing, 35.9% (95% CI, 33.4%-38.3%) reported talking about testing with a doctor or other health professional, and 17.8% (95% CI, 16.0%-19.9%) had testing (Table 2). Among high-risk patients, 80.9% (95% CI, 78.0%-83.9%) wanted testing, 70.9% (95% CI, 67.5%-74.3%) talked about testing with a doctor or other health professional, 39.6% (95% CI, 35.9%-43.3%) had a session with a genetic counseling expert, and 52.9% (95% CI, 49.1%-56.6%) had testing. Of tested high-risk patients, 61.7% (95% CI, 56.6%-66.7%) had an expert genetic counseling session. The most common reason high-risk patients reported for not testing was “my doctor didn’t recommend it” (56.1%), “too expensive” (13.7%), “I did not want it” (10.7%), and “my family didn’t want me to get it” (0.2%). On multivariable analysis (Table 1), characteristics associated with no testing included older age and Asian ethnicity but not education, income, or insurance.
In this large, population-based study, most patients reported wanting genetic testing and 29% reported having it. Yet only 39.6% of all high-risk women and 61.7% of tested high-risk women reported having a genetic counseling session. This suggests a gap between need and availability of genetic counseling. Only 52.9% of high-risk patients had a genetic test, representing a missed opportunity to prevent ovarian and other cancer deaths among mutation carriers and their families. High-risk patients most vulnerable to undertesting included Asians and older women, despite evidence that many such patients carry mutations.4,5
Clinical need for genetic testing may not be adequately recognized by physicians. High-risk patients reported lack of a physician’s recommendation, not expense, as their primary reason for not testing. Limitations of the study included the testing data source being by patient self-report and that the patients lived in only 2 geographic regions. The findings emphasize the importance of cancer physicians in the genetic testing process. Priorities include improving physicians’ communication skills and assessments of patients’ risk and desire for testing, and optimizing triage to genetic counselors.
Corresponding Author: Allison W. Kurian, MD, MSc, Medicine and of Health Research and Policy, Stanford University School of Medicine, Health Research and Policy Redwood Bldg, Room T254A, Stanford, CA 94305-5405 (email@example.com).
Author Contributions: Dr Kurian and Mr Griffith had full access to all of the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis. Drs Katz and Jagsi share senior authorship.Concept and design: Kurian, Griffith, Jagsi, Katz.Acquisition, analysis, or interpretation of data: All authors.Drafting of the manuscript: Kurian, Griffith, Morrow, Katz, Jagsi.Critical revision of the manuscript for important intellectual content: All authors.Statistical analysis: Griffith.Obtained funding: Jagsi, Katz.Administrative, technical, or material support: Hamilton.
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Kurian reports receiving grant funding from Myriad Genetics, Invitae, and Ambry Genetics. No other disclosures were reported.
Funding/Support: Research reported in this publication was supported by grant P01CA163233 from the National Cancer Institute (NCI) of the National Institutes of Health awarded to the University of Michigan. The collection of cancer incidence data used in this study was supported by the California Department of Public Health pursuant to California Health and Safety Code Section 103885; Centers for Disease Control and Prevention’s (CDC’s) National Program of Cancer Registries, under cooperative agreement 5NU58DP003862-04/DP003862; by contracts HHSN261201000140C, HHSN261201000035C, HHSN261201000034C from NCI’s Surveillance, Epidemiology, and End Results Program awarded to the Cancer Prevention Institute of California, the University of Southern California, and the Public Health Institute, respectively. The collection of cancer incidence data in Georgia was supported by contract HHSN261201300015I, task order HHSN26100006 from NCI and a cooperative agreement 5NU58DP003875-04-00 from the CDC.
Role of the Funder/Sponsor: The funders played no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; or decision to submit the manuscript for publication.
Disclaimer: The ideas and opinions expressed herein are those of the authors and endorsement by the state of California, Department of Public Health, the NCI, and the CDC or their contractors and subcontractors is not intended nor should be inferred.
Additional Contributions: We thank our project staff Mackenzie Crawford, MPH, and Kiyana Perrino, MPH (both from Georgia Cancer Registry), Jennifer Zelaya, Pamela Lee, Maria Gaeta, Virginia Parker, BA, and Renee Bickerstaff-Magee (all from University of Southern California), Rebecca Morrison, MPH, Rachel Tocco, MA, Alexandra Jeanpierre, MPH, Stefanie Goodell, BS, Paul Abrahamse, MA, Irina Bondarenko, MS, and Rose Juhasz, PhD (all from the University of Michigan). We thank Kara Milliron, MS (University of Michigan), for her assistance and expertise in developing survey items. All persons listed above have been compensated for their work. We thank Sarah Hawley, PhD (University of Michigan), for her critical review of the article. She received no compensation for her contribution. We also thank our survey respondents.