A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer

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Deborah Cragun College of Public Health, University of South Florida, Tampa, Florida; and

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Anne Weidner Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, and

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Ann Tezak Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, and

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Brenda Zuniga Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, and

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Georgia L. Wiesner Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, and
Vanderbilt-Ingram Cancer Center, Nashville, Tennessee.

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Tuya Pal Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, and
Vanderbilt-Ingram Cancer Center, Nashville, Tennessee.

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Background: Increasing demand for genetic testing for inherited cancer risk coupled with a shortage of providers trained in genetics highlight the potential for automated tools embedded in the clinic process to meet this demand. We developed and tested a scalable, easy-to-use, 12-minute web-based educational tool that included standard pretest genetic counseling elements related to panel-based testing for multiple genes associated with cancer risk. Methods: The tool was viewed by new patients at the Vanderbilt Hereditary Cancer Clinic before meeting with a board-certified genetics professional. Pre- and post-tool surveys measured knowledge, feeling informed/empowered to decide about testing, attitudinal values about genetic testing, and health literacy. Of the initial 100 participants, 50 were randomized to only have knowledge measured on the post-tool survey to assess for a priming effect. Results: Of 360 patients approached, 305 consented and completed both the pre- and post-tool surveys, with a mean age of 47 years, including 80% female patients and 48% patients with cancer. Survey results showed an increase in knowledge and feeling informed/empowered after viewing the tool (P<.001), but no significant change in attitude (P=.64). Post-tool survey data indicated no difference in median knowledge between low and high health literacy groups (P=.30). No priming effect was present among the initial 100 participants (P=.675). Conclusions: Viewing the educational tool resulted in significant gains in knowledge across health literacy levels, and most individuals felt informed and empowered to decide about genetic testing. These findings indicate that the use of an automated pretest genetic counseling tool may help streamline the delivery of genetic services.

Submitted November 5, 2019; accepted for publication February 7, 2020.

Author contributions: Study concept: Cragun, Pal. Methodology: Cragun, Pal. Project administration: Weidner, Tezak. Data curation: Weidner. Formal analysis: Cragun, Weidner. Investigation: Zuniga. Funding acquisition: Pal. Writing—original draft: Cragun. Writing—review and editing: All authors.

Disclosures: The authors have disclosed that they have not received any financial consideration from any person or organization to support the preparation, analysis, results, or discussion of this article.

Funding: This work was supported by funding from Ingram Professorship (ID0EQ6AG3405), Kleberg Foundation (ID0ESDBG3406), and Vanderbilt Genetic Institute Departmental Funds (ID0EUHBG3407). This project was also supported by CTSA (award number UL1 TR002243) from the National Center for Advancing Translational Sciences. Its contents are solely the responsibility of the authors and do not necessarily represent official views of the National Center for Advancing Translational Sciences or the NIH.

Correspondence: Tuya Pal, MD, Vanderbilt-Ingram Cancer Center, 1500 21st Avenue South, Suite 2810, Nashville, TN 37212. Email: tuya.pal@vumc.org
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  • Expand
  • 1.

    Childers CP, Childers KK, Maggard-Gibbons M, et al.. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol 2017;35:38003806.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 2.

    Watson M, Kash KM, Homewood J, et al.. Does genetic counseling have any impact on management of breast cancer risk? Genet Test 2005;9:167174.

  • 3.

    Roukos DH, Briasoulis E. Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. Nat Clin Pract Oncol 2007;4:578590.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 4.

    Narod SA, Offit K. Prevention and management of hereditary breast cancer. J Clin Oncol 2005;23:16561663.

  • 5.

    Domchek SM, Friebel TM, Singer CF, et al.. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967975.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6.

    Finch AP, Lubinski J, Møller P, et al.. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol 2014;32:15471553.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 7.

    Maxwell KN, Domchek SM. Cancer treatment according to BRCA1 and BRCA2 mutations. Nat Rev Clin Oncol 2012;9:520528.

  • 8.

    Tinoco G, Warsch S, Glück S, et al.. Treating breast cancer in the 21st century: emerging biological therapies. J Cancer 2013;4:117132.

  • 9.

    Robson M, Im SA, Senkus E, et al.. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med 2017;377:523533.

  • 10.

    Le DT, Uram JN, Wang H, et al.. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 2015;372:25092520.

  • 11.

    Westdorp H, Kolders S, Hoogerbrugge N, et al.. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome. Cancer Lett 2017;403:159164.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 12.

    Hereditary Cancer Syndromes and Risk Assessment: ACOG Committee Opinion, Number 793. Obstet Gynecol 2019;134:e143149.

  • 13.

    Robson ME, Bradbury AR, Arun B, et al.. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2015;33:36603667.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 14.

    Owens DK, Davidson KW, Krist AH, et al.. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer: US Preventive Services Task Force recommendation statement. JAMA 2019;322:652665.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 15.

    Daly MB, Pilarski R Perry MP, et al.. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. Version 1.2020. Accessed December 4, 2019. To view the most recent version, visit NCCN.org.

    • PubMed
    • Export Citation
  • 16.

    American College of Surgeons. National Accreditation Program for Breast Centers Standards Manual, 2nd ed. Accessed June 15, 2019. Available at: https://accreditation.facs.org/accreditationdocuments/NAPBC/Portal%20Resources/2018NAPBCStandardsManual.pdf

    • PubMed
    • Export Citation
  • 17.

    American Society of Clinical Oncology. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996. J Clin Oncol 1996;14:17301736 [discussion: 1737–1740].

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 18.

    Hoskovec JM, Bennett RL, Carey ME, et al.. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns 2018;27:1620.

  • 19.

    Rubanovich CK, Cheung C, Mandel J, et al.. Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States. Hum Mol Genet 2018;27:R250258.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 20.

    Cragun D, Camperlengo L, Robinson E, et al.. Differences in BRCA counseling and testing practices based on ordering provider type. Genet Med 2015;17:5157.

  • 21.

    Vadaparampil ST, Scherr CL, Cragun D, et al.. Pretest genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida. Clin Genet 2015; 87:473477.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 22.

    Katz SJ, Ward KC, Hamilton AS, et al.. Gaps in receipt of clinically indicated genetic counseling after diagnosis of breast cancer. J Clin Oncol 2018;36:12181224.

  • 23.

    Whitworth P, Beitsch P, Arnell C, et al.. Impact of payer constraints on access to genetic testing. J Oncol Pract 2017;13:e4756.

  • 24.

    Stenehjem DD, Au T, Sainski AM, et al.. Impact of a genetic counseling requirement prior to genetic testing. BMC Health Serv Res 2018;18:165.

  • 25.

    Green MJ, Peterson SK, Baker MW, et al.. Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. JAMA 2004;292:442452.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 26.

    Sie AS, van Zelst-Stams WA, Spruijt L, et al.. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Fam Cancer 2014;13:143151.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 27.

    Manchanda R, Burnell M, Loggenberg K, et al.. Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations. J Med Genet 2016;53:472480.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 28.

    Watson CH, Ulm M, Blackburn P, et al.. Video-assisted genetic counseling in patients with ovarian, fallopian and peritoneal carcinoma. Gynecol Oncol 2016;143:109112.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 29.

    Ames AG, Metcalfe SA, Dalton Archibald A, et al.. Measuring informed choice in population-based reproductive genetic screening: a systematic review. Eur J Hum Genet 2015;23:821.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 30.

    Sepucha K, Ozanne E, Silvia K, et al.. An approach to measuring the quality of breast cancer decisions. Patient Educ Couns 2007;65:261269.

  • 31.

    Ferron Parayre A, Labrecque M, Rousseau M, et al.. Validation of SURE, a four-item clinical checklist for detecting decisional conflict in patients. Med Decis Making 2014;34:5462.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 32.

    Chew LD, Griffin JM, Partin MR, et al.. Validation of screening questions for limited health literacy in a large VA outpatient population. J Gen Intern Med 2008;23:561566.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 33.

    Furr LA, Kelly SE. The Genetic Knowledge Index: developing a standard measure of genetic knowledge. Genet Test 1999;3:193199.

  • 34.

    Kaphingst KA, Facio FM, Cheng MR, et al.. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet 2012;82:408415.

  • 35.

    REDCap Randomization Module. Accessed June 30, 2018. Available at: https://wiki.uiowa.edu/display/REDCapDocs/REDCap+Randomization+Module

    • PubMed
    • Export Citation
  • 36.

    Ashworth A, Lord CJ. Synthetic lethal therapies for cancer: what’s next after PARP inhibitors? Nat Rev Clin Oncol 2018;15:564576.

  • 37.

    Kamel D, Gray C, Walia JS, et al.. PARP inhibitor drugs in the treatment of breast, ovarian, prostate and pancreatic cancers: an update of clinical trials. Curr Drug Targets 2018;19:2137.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 38.

    Le D, Gelmon KA. Olaparib tablets for the treatment of germ line BRCA-mutated metastatic breast cancer. Expert Rev Clin Pharmacol 2018;11:833839.

  • 39.

    Ledermann JA, Harter P, Gourley C, et al.. Overall survival in patients with platinum-sensitive recurrent serous ovarian cancer receiving olaparib maintenance monotherapy: an updated analysis from a randomised, placebo-controlled, double-blind, phase 2 trial. Lancet Oncol 2016;17:15791589.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 40.

    Link JT, Overman MJ. Immunotherapy progress in mismatch repair-deficient colorectal cancer and future therapeutic challenges. Cancer J 2016;22:190195.

  • 41.

    Litton JK, Rugo HS, Ettl J, et al.. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N Engl J Med 2018;379:753763.

  • 42.

    Lyons TG, Robson ME. Resurrection of PARP inhibitors in breast cancer. J Natl Compr Canc Netw 2018;16:11501156.

  • 43.

    Overman MJ, Ernstoff MS, Morse MA. Where we stand with immunotherapy in colorectal cancer: deficient mismatch repair, proficient mismatch repair, and toxicity management. Am Soc Clin Oncol Educ Book 2018;38:239247.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 44.

    Overman MJ, Lonardi S, Wong KYM, et al.. Durable clinical benefit with nivolumab plus ipilimumab in DNA mismatch repair-deficient/microsatellite instability-high metastatic colorectal cancer. J Clin Oncol 2018;36:773779.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 45.

    Ramakrishnan Geethakumari P, Schiewer MJ, Knudsen KE, et al.. PARP inhibitors in prostate cancer. Curr Treat Options Oncol 2017;18:37.

  • 46.

    Staropoli N, Ciliberto D, Del Giudice T, et al.. The era of PARP inhibitors in ovarian cancer: “class action” or not? A systematic review and meta-analysis. Crit Rev Oncol Hematol 2018;131:8389.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 47.

    Fong PC, Boss DS, Yap TA, et al.. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009;361:123134.

  • 48.

    Bookman T. More people seek genetic testing, but there aren’t enough counselors. Accessed October 11, 2016. Available at: http://www.npr.org/sections/health-shots/2016/04/18/473066953/more-people-seek-genetic-testing-but-there-arent-enough-counselors

    • PubMed
    • Export Citation
  • 49.

    U.S. Bureau of Labor Statistics. Occupational employment and wages, May 2016: 29-9092 Genetic Counselors. Accessed April 21, 2020. Available at: https://www.bls.gov/oes/2016/may/oes299092.htm

    • PubMed
    • Export Citation
  • 50.

    Acheson LS, Stange KC, Zyzanski S. Clinical genetics issues encountered by family physicians. Genet Med 2005;7:501508.

  • 51.

    Vig HS, Armstrong J, Egleston BL, et al.. Cancer genetic risk assessment and referral patterns in primary care. Genet Test Mol Biomarkers 2009;13:735741.

  • 52.

    Radford C, Prince A, Lewis K, et al.. Factors which impact the delivery of genetic risk assessment services focused on inherited cancer genomics: expanding the role and reach of certified genetics professionals. J Genet Couns 2014;23:522530.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 53.

    Underhill-Blazey M, Stopfer J, Chittenden A, et al.. Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing. Patient Educ Couns 2019;102:15581564.

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 54.

    Cragun D, Zierhut H. Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling. J Genet Couns 2018;27:3358.

  • 55.

    Rego S, Grove ME, Cho MK, et al.. Informed consent in the genomics era [published online September 30, 2019]. Cold Spring Harb Perspect Med, https://doi.org/10.1101/cshperspect.a036582

    • PubMed
    • Search Google Scholar
    • Export Citation

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