Everyone has been touched by cancer in some way. Most employees either know someone who has had cancer or they have had cancer themselves. We all have a 40 percent chance of developing cancer in our lifetime, and cancer causes more than 22 percent of all deaths. (1, 2) Cancer is also a major cause of disability and Long Term Care claims.
(3)Cancer is a genetic disease and deserves a proper genetic diagnosis to allow the use of the most appropriate therapy and lead to new knowledge and better drugs through clinical trials. (4)Reading this short article will show how offering Cancer Genomic Profiling as an employee benefit can help your staff and their family should they develop cancer. This article discusses the benefits of getting cancer tissue genetically profiled in order to use precision medicine to find the best form of cancer therapy to improve survival.
Use of Genetic Testing in Oncology
Oncologists already use single gene genetic testing of cancer tissue as recommended by cancer organizations such as the National Comprehensive Cancer Network (NCCN). Broader and more comprehensive cancer genomic profiling using multi-gene panels is starting to be accepted in clinical practice. A 2017 Medscape survey of 132 cancer specialists in US shows that 64 percent feel that cancer genomic testing using a multi-gene panel is useful especially in patients with advanced cancer.
(5)This in-depth genetic testing of a tumor looking at more than 300+ cancer genes is usually considered in patients where chemotherapy is necessitated and in patients where other therapies have failed. Some academics have argued that if we are serious about ever finding a 'cure for cancer', every tumor should be genetically profiled to help researchers find the root cause of cancer. (4)Currently, many health insurers don't cover these comprehensive genetic testing panels.
The cost of cancer genomic profiling can be more than $7000 and this is one of the commonly quoted reasons why doctors and patients avoid needed genetic tests. One study of lung cancer patients showed that 41 percent of patients did not follow the recommended clinical guidelines for genetic testing.
They mention uncertainty regarding cost reimbursement as one of the barriers to ordering these tests.(6) This is where genomic based products can play an important role at time of cancer diagnosis as an employee benefit to ensure access and coverage for these important tests.
Six Benefits of Cancer Genomic Profiling
1. More Accurate Diagnosis Using Genetics
Doctors unfortunately misdiagnose cancer in 1 to 15 percent of cases signaling the need for more accurate diagnostic methods.(7) Also, 2 percent of cancers present as a 'tumor of unknown primary' meaning clinical and pathological analysis cannot tell where the cancer originated. Genetic testing the cancer tissue changed the working diagnosis for half of cases and changed management for 65 percent of these patients.(8)
2. Cancer Genetics Predict Survival & Prognosis
Cancer type and stage are still the most important predictors of survival of a cancer patient. But analyzing the genetics of the cancer is quickly becoming an important added feature that doctors are using to help predict the future path of their patient's disease. Analyzing the cancer genetics also allows doctors to predict a patient's response to various types of cancer therapy. For example, analyzing the number of genetic alterations in a cancer, termed Tumor Mutational Burden, predicts which patients respond best to immunotherapy.(9)
3. Cancer Genetic Profiling Guides Treatment
Current medical practice treats cancer depending on what organ the cancer came from. Looking at a cancer's genes allows the doctor to better tailor the cancer therapy to target the tumor genetic profile. For example, in May 2017, the FDA approved the use of a cancer immunotherapy drug based solely on the cancer's genomic profile, regardless of where the cancer originated.
(10)It has been shown that 49 percent of solid tumors carry at least one genetic mutation that is actionable in that there already exists a targeted drug directed at cancers with these specific genetic alterations. (11)Cancer genetic profiling can also help a doctor avoid the use of expensive and toxic chemotherapy in some settings. For example, in early stage breast cancer, genetic testing of clinically high risk patients can lead to a 46 percent reduction in the number of patients needing additional post-surgery chemotherapy.(12)
4. Enrolling Patients in Clinical Trials
Performing cancer genetic profiling allows some patients to access various clinical trials such as large national cancer agency sponsored trials like NCI-MATCH and ASCO-TAPUR trials and many more. (13) One study showed that 11% of patients who get cancer genomic profiling get matched and enrolled in a clinical trial. (14) Participating in these research trials could lead to improved survival and new drug discoveries. Also, some patients and their families get some respite from the tragedy of their own cancer realizing that they are helping future patients by taking part in clinical trials where available.
5. Improve Patient Survival
Many studies have shown that personalized cancer therapies based on tumour genetic biomarkers improve patient outcomes. (15, 16) For example, one study of lung cancer patients showed an improved overall survival in the patients that received targeted therapy based on the results of the genetic testing compared to the the group that just received standard cytotoxic chemotherapy.
(31.8 months compared to 12.7 months)(6)Even in terminally ill, end stage cancer patients, some preliminary studies show that cancer genomic profiling guided targeted therapies can benefit patients.(11, 17, 18) For example, Spetzler's 2015 study showed that genetic testing influenced treatment decision in 53 percent of patients.
The study also showed that those patients that received matched therapies based on cancer genomic profiling lived 1.1 years longer compared to those patients that received unmatched therapies. (median overall survival of 978 days with matched treatment vs 580 days in unmatched)(19)It is believed that future research will show that using these targeted medications at earlier stages of cancer will lead to an even greater improvement in patient survival.
6. Prevent Cancer in Family Members
Getting the patient's tumor genetically profiled might uncover familial genetic mutations that caused the person's cancer. This could lead to other family members being genetically tested and if they also are found to be carrying the same cancer risk genes, they could be put on preventative therapies and screening programs to lower their cancer risk.
Potential Challenges to Consider with Cancer Genomic Profiling
- Inadequate cancer tissue sample for genetic analysis
- Health risks if cancer repeat biopsy is needed
- Out of pocket costs / insurance coverage issues for some of these expensive targeted therapies
- Challenges getting into clinical trials to access some of these new cancer medications
- Patient becomes too sick to benefit from targeted cancer therapy
Impact of Cancer Genomic Profiling on Healthcare Costs?
As comprehensive cancer genomic profiling is fairly new, the net impact on healthcare costs is unclear currently. The cost of genetic testing leading to the use of expensive targeted therapies that prolong survival is mitigated by the cost savings attributed to being able to withhold additional chemotherapy, lower hospitalization costs using targeted therapies at home, avoid expensive high grade treatment related toxicities that are more common in patients treated with conventional chemotherapy and postponing the need for expensive palliative care.
Two preliminary studies have shown that healthcare costs are manageable being about double in those that get genetic testing guided targeted therapies mostly due to improved patient survival.(20, 21)I invite you to answer an anonymous one-question survey at the top of the article and see what others think about cancer genomic profiling. Also, post your comments and opinions in the comments section below.
1) National Cancer Institute (NCI). Accessed December 4, 2017 at https://www.cancer.gov/about-cancer/understanding/statistics
2) Kochanek, KD et al. Deaths: Final Data for 2014, National Vital Statistics Reports, Vol. 65 No. 4, June 30, 2016 https://www.cdc.gov/nchs/data/nvsr/nvsr65/nvsr65_04.pdf
3) American Association for Long-Term Care Insurance, August 31, 2011, Accessed December 4, 2017 at http://www.aaltci.org/news/long-term-care-insurance-news/top-reasons-for-long-term-care-insurance-claim-alzheimers-cancer
(4) Subbiah V and Kurzrock R. Universal Genomic Testing Needed to Win the War Against Cancer: Genomics IS the Diagnosis. JAMA Oncol. 2016 Jun 1;2
(5) 719-205) West, HJ. and Miller, G. Genomic Testing and Precision Medicine in Cancer Care, Medscape Internal Medicine; May 2, 2017; http://www.medscape.com/slideshow/genomics-and-oncology-report-6008655; Accessed December 4, 2017
(6) Gutierrez ME et al. Genomic Profiling of Advanced Non-Small Cell Lung Cancer in Community Settings: Gaps and Opportunities. Clin Lung Cancer. 2017 Apr 13. pii: S1525-7304(17)30109-2
(7) Raab SS and Grzybicki DM. Quality in cancer diagnosis. CA Cancer J Clin. 2010 May-Jun;60(3):139-65
(8) Nystrom SJ et al. Clinical utility of gene-expression profiling for tumor-site origin in patients with metastatic or poorly differentiated cancer: impact on diagnosis, treatment, and survival.
(9) Oncotarget. 2012 Jun;3(6):620-8.9) Goodman AM et al.
(10)Tumor Mutational Burden as an Independent Predictor of Response to Immunotherapy in Diverse Cancers. Mol Cancer Ther. 2017 Nov;16
(11) 2598-260810) FDA News Release, May 23, 2017, FDA approves first cancer treatment for any solid tumor with a specific genetic feature. Accessed December 4, 2017 at https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm560167.htm11) Massard C et al. High-Throughput Genomics and Clinical Outcome in Hard-to-Treat Advanced Cancers: Results of the MOSCATO 01 Trial. Cancer Discov. 2017 Jun;7(6):586-595
(12) Cardoso F et al. 70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer. N Engl J Med. 2016 Aug 25;375(8):717-29
(13) Clinicaltrials.gov, A service of the U.S. National Institutes of Health:NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients with Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma; NCT02465060; ASCO-TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People with Advanced Stage Cancer; NCT02693535; Accessed December 4, 2017 at https://clinicaltrials.gov
(14) Zehir A et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017 Jun;23(6):703-713
(15) Schwaederle M et al. Association of Biomarker-Based Treatment Strategies with Response Rates and Progression-Free Survival in Refractory Malignant Neoplasms: A Meta-analysis. JAMA Oncol. 2016 Nov 1;2(11):1452-1459
(16) Schwaederle M et al. Impact of Precision Medicine in Diverse Cancers: A Meta-Analysis of Phase II Clinical Trials. J Clin Oncol. 2015 Nov 10;33(32):3817-25
(17) Von Hoff DD et al. Pilot study using molecular profiling of patients' tumors to find potential targets and select treatments for their refractory cancers. J Clin Oncol. 2010 Nov 20;28(33):4877-83
(18) Tsimberidou AM et al. Personalized medicine for patients with advanced cancer in the phase I program at MD Anderson: validation and landmark analyses. Clin Cancer Res. 2014 Sep 15;20(18):4827-36
(19) Spetzler D et al. Multi-platform molecular profiling of 1,180 patients increases median overall survival and influences treatment decision in 53% of cases. European Journal of Cancer, September 2015; Volume 51, Supplement 3, Page S44
(20) Haslem DS et al. A Retrospective Analysis of Precision Medicine Outcomes in Patients With Advanced Cancer Reveals Improved Progression-Free Survival Without Increased Health Care Costs. J Oncol Pract, February 2017; Volume 13 (Issue 2): pp e108-e199
(21) Signorovitch, J et al. Estimated cost of anticancer therapy directed by comprehensive genomic profiling (CGP) in a single-center study. Journal of Clinical Oncology 2017 35:15_suppl, 6605-6605
All content in this article was created for informational purposes only. The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician, genetic counsellor or other qualified health provider with any questions you may have regarding a medical condition or testing. Never disregard professional medical advice or delay in seeking it because of something you have read in this article. Reliance on any information provided in this article is solely at your own risk.
Your partner in the genomic revolution About Wamberg Genomic Advisors
Wamberg Genomic Advisors is your partner in the Genomic Revolution. Our mission to make genomic testing readily available at prices everyone can afford. Our focus is on delivering genomic products and services to employers and their employees via their trusted benefit brokers and policyholders of life insurance companies. To discover more about WGA and the future of genomics, visit wamberggenomic.com.