Journal Article
. 2014 Jun;21(3).
doi: 10.3747/co.21.1782.

Access to personalized medicine: factors influencing the use and value of gene expression profiling in breast cancer treatment

Y Bombard 1 L Rozmovits 2 M Trudeau 3 N B Leighl 4 K Deal 5 D A Marshall 6 
Affiliations
  • PMID: 24940102
  •     29 References
  •     13 citations

Abstract

Unlabelled: Genomic information is increasingly being used to personalize health care. One example is gene expression profiling (gep) tests, which estimate recurrence risk to inform chemotherapy decisions in breast cancer. Recently, gep tests were publicly funded in Ontario. We explored the perceived utility of gep tests, focusing on the factors influencing their use and value in treatment decision-making by patients and oncologists.

Methods: We conducted interviews with oncologists (n = 14) and interviews and a focus group with early-stage breast cancer patients (n = 28) who underwent gep testing. Both groups were recruited through oncology clinics in Ontario. Data were analyzed using the content analysis and constant comparison techniques.

Results: Narratives from patients and oncologists provided insights into various factors facilitating and restricting access to gep. First, oncologists are positioned as gatekeepers of gep, providing access in medically appropriate cases. However, varying perceptions of appropriateness led to perceived inequities in access and negative impacts on the doctor-patient relationship. Second, media attention facilitated patient awareness of gep, but also complicated gatekeeping. Third, the dedicated administration attached to gep was burdensome and led to long waits for results and also to increased patient anxiety and delayed treatment. Collectively, because of barriers to access, those factors inadvertently heightened the perceived value of gep for patients relative to other prognostic indicators.

Conclusions: Our study delineates the factors facilitating and restricting access to gep, and highlights the roles of media and organization of services in the perceived value and utilization of gep. The results identify a need for administrative changes and practice guidelines to support streamlined and standardized use of gep tests.

Keywords: Gene expression profiling; access; breast cancer; decision-making; genomics; health care providers; patient perceptions; personalized medicine; perspectives; risk recurrence.

Cost-effectiveness analysis of recurrence score-guided treatment using a 21-gene assay in early breast cancer.
Daphne T Tsoi, Miho Inoue, +2 authors, Kathleen I Pritchard.
Oncologist, 2010 Apr 28; 15(5). PMID: 20421264    Free PMC article.
The HOXB13:IL17BR expression index is a prognostic factor in early-stage breast cancer.
Xiao-Jun Ma, Susan G Hilsenbeck, +6 authors, Mark G Erlander.
J Clin Oncol, 2006 Sep 30; 24(28). PMID: 17008703
Media Hyping and the "Herceptin Access Story": An Analysis of Canadian and UK Newspaper Coverage.
Julia Abelson, Patricia A Collins.
Healthc Policy, 2009 Apr 21; 4(3). PMID: 19377347    Free PMC article.
Impact of gene expression profiling tests on breast cancer outcomes.
Luigi Marchionni, Renee F Wilson, +4 authors, Steven N Goodman.
Evid Rep Technol Assess (Full Rep), 2008 May 07; (160). PMID: 18457476    Free PMC article.
Review.
Validation and clinical utility of a 70-gene prognostic signature for women with node-negative breast cancer.
Marc Buyse, Sherene Loi, +18 authors, TRANSBIG Consortium.
J Natl Cancer Inst, 2006 Sep 07; 98(17). PMID: 16954471
Highly Cited.
Postal survey of physicians and laboratories: practices and perceptions of molecular oncology testing.
Fiona A Miller, Paul Krueger, +3 authors, Suzanne Kamel-Reid.
BMC Health Serv Res, 2009 Aug 01; 9. PMID: 19643018    Free PMC article.
Barriers to the use of personalized medicine in breast cancer.
Christine B Weldon, Julia R Trosman, +2 authors, Julian C Schink.
J Oncol Pract, 2012 Nov 28; 8(4). PMID: 23180995    Free PMC article.
Predicting response to primary chemotherapy: gene expression profiling of paraffin-embedded core biopsy tissue.
Lida Mina, Sharon E Soule, +8 authors, Kathy D Miller.
Breast Cancer Res Treat, 2006 Oct 14; 103(2). PMID: 17039265
Time to take health delivery research seriously.
Peter J Pronovost, Christine A Goeschel.
JAMA, 2011 Jul 21; 306(3). PMID: 21771994
American Society of Clinical Oncology 2007 update of recommendations for the use of tumor markers in breast cancer.
Lyndsay Harris, Herbert Fritsche, +7 authors, American Society of Clinical Oncology.
J Clin Oncol, 2007 Oct 24; 25(33). PMID: 17954709
Highly Cited. Review.
The influence of health care policies and health care system distrust on willingness to undergo genetic testing.
Katrina Armstrong, Mary Putt, +6 authors, Judy Shea.
Med Care, 2012 Apr 05; 50(5). PMID: 22473221    Free PMC article.
When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada.
Alice K Hawkins, Susan Creighton, Michael R Hayden.
Eur J Hum Genet, 2012 Jul 12; 21(2). PMID: 22781094    Free PMC article.
Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia.
Barbara A Bernhardt, Cara Zayac, Reed E Pyeritz.
Genet Med, 2011 Jun 04; 13(9). PMID: 21637104    Free PMC article.
Recommendations from the EGAPP Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer?
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med, 2009 Jan 07; 11(1). PMID: 19125125    Free PMC article.
Confronting genetic testing disparities: knowledge is power.
Michael Hall, Olufunmilayo I Olopade.
JAMA, 2005 Apr 14; 293(14). PMID: 15827320
EuroGentest: DNA-based testing for heritable disorders in Europe.
Poupak Javaher, Helena Kaariainen, +4 authors, Jorg Schmidtke.
Community Genet, 2008 Jan 22; 11(2). PMID: 18204250
Review.
The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?
Muin J Khoury, Marta Gwinn, +3 authors, Linda Bradley.
Genet Med, 2007 Dec 13; 9(10). PMID: 18073579
Highly Cited. Review.
Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer.
Soonmyung Paik, Gong Tang, +11 authors, Norman Wolmark.
J Clin Oncol, 2006 May 25; 24(23). PMID: 16720680
Highly Cited.
A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer.
Soonmyung Paik, Steven Shak, +12 authors, Norman Wolmark.
N Engl J Med, 2004 Dec 14; 351(27). PMID: 15591335
Highly Cited.
Gene expression profiling for guiding adjuvant chemotherapy decisions in women with early breast cancer: an evidence-based and economic analysis.
Medical Advisory Secretariat.
Ont Health Technol Assess Ser, 2010 Jan 01; 10(23). PMID: 23074401    Free PMC article.
Translating genomics in cancer care.
Yvonne Bombard, Peter B Bach, Kenneth Offit.
J Natl Compr Canc Netw, 2013 Nov 15; 11(11). PMID: 24225968
Review.
Impact of a 21-gene RT-PCR assay on treatment decisions in early-stage breast cancer: an economic analysis based on prognostic and predictive validation studies.
Gary H Lyman, Leon E Cosler, Nicole M Kuderer, John Hornberger.
Cancer, 2007 Feb 22; 109(6). PMID: 17311307
Technology assessment and resource allocation for predictive genetic testing: a study of the perspectives of Canadian genetic health care providers.
Alethea Adair, Robyn Hyde-Lay, Edna Einsiedel, Timothy Caulfield.
BMC Med Ethics, 2009 Jun 23; 10. PMID: 19538750    Free PMC article.
Gene patents and licensing: case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society.
Robert Cook-Deegan, Christopher Heaney.
Genet Med, 2010 Apr 30; 12(4 Suppl). PMID: 20393303    Free PMC article.
Quality assurance in molecular genetic testing laboratories.
M M McGovern, M O Benach, +2 authors, R Keenlyside.
JAMA, 1999 Mar 10; 281(9). PMID: 10071006
A gene-expression signature as a predictor of survival in breast cancer.
Marc J van de Vijver, Yudong D He, +18 authors, René Bernards.
N Engl J Med, 2002 Dec 20; 347(25). PMID: 12490681
Highly Cited.
Science and the sources of hype.
T Caulfield, C Condit.
Public Health Genomics, 2012 Apr 11; 15(3-4). PMID: 22488464
Disparities in genetic testing: thinking outside the BRCA box.
Michael J Hall, Olufunmilayo I Olopade.
J Clin Oncol, 2006 May 10; 24(14). PMID: 16682739
Review.
Patients' perceptions of gene expression profiling in breast cancer treatment decisions.
Y Bombard, L Rozmovits, +3 authors, D A Marshall.
Curr Oncol, 2014 Apr 26; 21(2). PMID: 24764705    Free PMC article.
Consumer familiarity, perspectives and expected value of personalized medicine with a focus on applications in oncology.
Susan Garfeld, Michael P Douglas, +2 authors, Kathryn A Phillips.
Per Med, 2015 Jan 27; 12(1). PMID: 25620993    Free PMC article.
Challenges of coverage policy development for next-generation tumor sequencing panels: experts and payers weigh in.
Julia R Trosman, Christine B Weldon, R Kate Kelley, Kathryn A Phillips.
J Natl Compr Canc Netw, 2015 Mar 05; 13(3). PMID: 25736008    Free PMC article.
The value of personalizing medicine: medical oncologists' views on gene expression profiling in breast cancer treatment.
Yvonne Bombard, Linda Rozmovits, +3 authors, Deborah A Marshall.
Oncologist, 2015 Mar 10; 20(4). PMID: 25746345    Free PMC article.
How do women trade-off benefits and risks in chemotherapy treatment decisions based on gene expression profiling for early-stage breast cancer? A discrete choice experiment.
Deborah A Marshall, Ken Deal, +3 authors, Maureen Trudeau.
BMJ Open, 2016 Jun 04; 6(6). PMID: 27256091    Free PMC article.
Payer Coverage for Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative.
Julia R Trosman, Christine B Weldon, +4 authors, Kathryn A Phillips.
J Natl Compr Canc Netw, 2017 Feb 12; 15(2). PMID: 28188191    Free PMC article.
Decision Making on Medical Innovations in a Changing Health Care Environment: Insights from Accountable Care Organizations and Payers on Personalized Medicine and Other Technologies.
Julia R Trosman, Christine B Weldon, +3 authors, Kathryn A Phillips.
Value Health, 2017 Feb 19; 20(1). PMID: 28212967    Free PMC article.
Uptake of a 21-gene expression assay in breast cancer practice: views of academic and community-based oncologists.
M A O'Brien, S Dhesy-Thind, +3 authors, E Grunfeld.
Curr Oncol, 2017 May 12; 24(2). PMID: 28490937    Free PMC article.
Principles and methods of in-silico prioritization of non-coding regulatory variants.
Phil H Lee, Christian Lee, +3 authors, Mark Daly.
Hum Genet, 2017 Dec 31; 137(1). PMID: 29288389    Free PMC article.
Review.
Can precision medicine help achieve the goal of reducing care when the risks exceed the benefits?
Kathryn A Phillips, Deborah A Marshall, Allison W Kurian.
Per Med, 2019 Sep 26; 16(5). PMID: 31552799    Free PMC article.
Barriers to information provision regarding breast cancer and its treatment.
Heather J Campbell-Enns, Roberta L Woodgate, Harvey M Chochinov.
Support Care Cancer, 2017 Apr 26; 25(10). PMID: 28439727
Liquid biopsies to guide therapeutic decisions in rheumatoid arthritis.
Roxana Coras, Rekha Narasimhan, Monica Guma.
Transl Res, 2018 Aug 10; 201. PMID: 30092207    Free PMC article.
Review.
Psychosocial and behavioral outcomes of genomic testing in cancer: a systematic review.
Tatiane Yanes, Amanda M Willis, +2 authors, Megan Best.
Eur J Hum Genet, 2018 Sep 13; 27(1). PMID: 30206354    Free PMC article.
Systematic Review.
Lessons learned from a cancer knowledge translation grants program: results of an evaluation.
M A O'Brien, T Makuwaza, +4 authors, E Grunfeld.
Curr Oncol, 2019 Sep 25; 26(4). PMID: 31548808    Free PMC article.