Published 12 August 2019
Last updated 02 December 2019
“Every cancer patient wants to know why in the world this happened to me,” says Susan McClure, a cancer survivor who’s been in remission for over 10 years.
This sentiment is shared by millions of patients diagnosed with cancer every year. Although McClure’s sentiment is not unique, the genomic profile of her tumour is. The same is true for every cancer patient, and may hold the key to understanding—and treating a patient’s disease. That’s why more and more physicians and patient advocates are insisting that testing be the first step in the journey of every person diagnosed with cancer.
How does genomic testing work?
In recent years, we have seen huge advances in the amount of genomic data we can get from testing a tumour, data which helps us understand what makes cancers grow. These insights mean that treatment could be tailored to the unique profile of each individual’s tumour, and importantly, help patients avoid potentially unnecessary treatments.1
Comprehensive genomic profiling (CGP) is a specific type of genomic testing, that provides a more complete picture of a cancer tumour by searching for multiple mutations in a large number of cancer-related genes. The comprehensive nature of CGP increases the likelihood of finding cancer-causing mutations for which targeted therapies or immunotherapies exist.2,3 CGP is also being used in a growing number of clinical trials, increasing the speed and efficacy of potentially life-saving research.
The Need for Education
“The one-size-fits-all approach to healthcare no longer cuts it, and it's time for people to understand that in order to get targeted treatments tailored uniquely to them, they have to do some form of genomic testing,” says McClure, who has devoted her life to better educating the public about genomics.
The need for such education is clear. But despite its benefits, patients’ understanding of genomic testing is severely lacking. In a recent international public awareness survey, only two out of five respondents were familiar with the term “genomic testing,” and only a third would definitely ask their physician about it if they were to get sick.4
The benefits of genomic testing for patients with rare and often difficult to treat cancers
The availability of genomic testing is potentially game changing for many people with cancer. And for particular groups of patients, it really changes the playing field entirely. Patients with certain rare genomic abnormalities, who previously had limited or no available treatment options, are now able to explore a whole new range of possibilities based on one comprehensive test.
We already know that some rare gene fusions such as NTRK and ROS1 are present in a broad range of tumours, including sarcoma, triple negative breast cancer, head and neck, salivary gland, bladder and lung, to name a few.5,6,7 Ten or 15 years ago, it would have been very difficult – like finding a needle in a haystack – to give people with tumours harbouring these rare gene fusions a targeted treatment. With advances in the development of targeted treatments and cancer genomic testing, doctors can now prescribe a treatment specific to the patient’s unique cancer.
#PutCancerToTheTest – tell us what you want to know about genomic testing
So what can be done to empower patients to ask their doctor about cancer genomic testing: to know how it works, the valuable information it can provide, and to understand whether it would be suitable for them? David LeDuc, Chief Growth Officer at the GO2 Foundation, insists that everyone in the healthcare community must play a part. “I think it's going take all of us continually talking about the power of genomic testing in advancing personalised health care, and more importantly the impact it can have on a patient's life, to get us to where we need to be.”
We at Roche agree that education plays a key role in advancing cancer care. That’s why we’re raising awareness around cancer genomic testing with educational activities—beginning with our two patient stories, Debbie and Jamal, who each have rare mutations in their DNA that were identified through CGP. We encourage you to use the hashtag #PutCancerToTheTest on social media to tell us what you want to know about cancer genomic testing, or if you or someone you know has been affected by cancer.
For more information, download our guide to genomic testing.
Hear from two individuals diagnosed with cancer - Debbie and Jamal, who each have rare mutations in their DNA that were identified through comprehensive genomic profiling.
More about personalised healthcare and genomics
Every person is unique. So is every cancer.
Advances in genomics are helping physicians to understand patients’ unique cancer types and to identify whether targeted therapy options are available for them.more
Spotlight on comprehensive genomic profiling
Comprehensive genomic profiling provides valuable information that can help determine the best possible treatment for each patient.more
|Clinical trial||Research studies that use human volunteers to test new drugs or other treatments to compare current, standard treatments with others that may be better. They may also test new ways to diagnose or prevent a disease. Before a new treatment or test is used on people, it is studied in the lab. If lab studies suggest it will work, the next step is to test it in patients.9|
|DNA||The genetic “blueprint” found in the nucleus (centre) of each cell. DNA holds genetic information on cell growth, division, and function.10|
|Gene fusions||Gene fusions (or fusion genes), are made naturally in the body when part of the DNA from one chromosome moves to another chromosome. This change can produce fusion proteins, which may lead to the development of some types of cancer.11|
|Genomic profile||A genomic profile (generated from genomic testing, or profiling), is a summary of unique genes within an individual or specific cell type. In cancer, the genomic profile of a tumour can determine the specific mutations that could drive that cancer’s growth. These insights can be used to tailor that person’s treatment.12|
|Immunotherapies||Treatments that use the body’s immune system to fight cancer.13|
|Sarcoma||A type of cancer that begins in bone or in the soft tissues of the body, including cartilage, fat, muscle, blood vessels, fibrous tissue, or other connective or supportive tissue. Different types of sarcoma are based on where the cancer forms. Sarcoma occurs in both adults and children.14|
|Targeted therapy||Treatment that attacks some part of cancer cells that makes them different from normal cells. Targeted therapies tend to have fewer side effects than chemotherapy drugs with broader action.15|
1. Stratton MR, et al. The cancer genome. Nature. 2009; Apr 9;458(7239):719-24.
2. Frampton GM et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 2013; Nov;31(11):1023-31.
3. Dong L et al. Clinical Next Generation Sequencing for Precision Medicine in Cancer. Curr Genomics. 2015 Aug;16(4):253-63.
4. Roche conducted survey: general awareness of genomic profiling. Conducted in general public in UK, Brazil, France, Italy, Germany, Spain, Canada and Switzerland [N=600]; June 2019.
5. Demetri GD, et al. Efficacy and safety of entrectinib in patients with NTRK fusion-positive (NTRK-fp) tumors: pooled analysis of STARTRK-2, STARTRK-1 and ALKA-372-001. Presented at: ESMO Annual Meeting; 2018 Oct 19-23; Munich, Germany. Abstract #LBA17.
6. Davies KD, et al. Molecular pathways: ROS1 fusion proteins in cancer. Clin Cancer Res. 2013 Aug 1;19(15):4040-5.
7. Kheder ES, et al. Emerging Targeted Therapy for Tumors with NTRK Fusion Proteins. Clin Cancer Res. 2018 Dec 1;24(23):5807-5814.
8. My Cancer Genome®. Biomarkers [Internet; cited 2019 Nov] Available from: https://www.mycancergenome.org/content/biomarkers/.
9. American Cancer Society. Glossary: Clinical trials. [Internet; cited 2019 Nov]. Available from: https://www.cancer.org/content/cancer/en/cancer/glossary.html?term=clinical+trials.
10. American Cancer Society. Glossary: Deoxyribonucleic acid. [Internet; cited 2019 Nov]. Available from: https://www.cancer.org/content/cancer/en/cancer/glossary.html?term=deoxyribonucleic+acid.
11. National Cancer Institute. The NCI Dictionary of Cancer Terms: Fusion gene. [Internet; cited 2019 Nov]. Available from: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/fusion-gene.
12. National Cancer Institute. The NCI Dictionary of Cancer Terms: Genomic profiling. [Internet; cited 2019 Nov]. Available from: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/genomic-profiling.
13. National Cancer Institute. The NCI Dictionary of Cancer Terms: Immunotherapy. [Internet; cited 2019 Nov]. Available from: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/immunotherapy.
14. National Cancer Institute. The NCI Dictionary of Cancer Terms: Sarcoma. [Internet; cited 2019 Nov]. Available from: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=sarcoma.
15. American Cancer Society. Glossary: Targeted therapy. [Internet; cited 2019 Nov]. Available from: https://www.cancer.org/content/cancer/en/cancer/glossary.html?term=targeted+therapy.