Published 12 August 2019
Cancer has never been so personal. We all know someone with cancer. They are normal people, living normal lives. They have families, friends, passions and pastimes. And we know that each person living with cancer is unique.
And so, too, the genomic profile of each patient’s tumour is unique – and may hold the key to treating their cancer. That’s where testing can make the difference. Testing is the first step in the journey of every person with cancer. The more we know about the role of mutations in cancer-related genes, the more empowered we can be to diagnose and treat their cancer more precisely and individually.
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 can be tailored to the profile of each individual’s tumour, and importantly, help patients avoid potentially unnecessary treatments.1 They may also be recommended for clinical trials that are suited to their unique genomic profile, which might otherwise not have been available to them. Comprehensive genomic profiling (CGP) is a type of genomic testing. A single CGP test can provide a more complete picture of a cancer tumour by searching for multiple mutations in a large number of cancer-related genes, and matches them with relevant targeted therapies, immunotherapies and clinical trials, to help guide personalised treatment decision.2,3
Despite its importance, only one third of people would ask a doctor about genomic testing, if they or someone they knew was diagnosed with cancer.4
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 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.
Here we tell the stories of two individuals diagnosed with cancer – Debbie and Jamal, who each have rare mutations in their DNA that were identified through comprehensive genomic profiling.
Debbie Rhea’s story
Debbie Rhea is 67 years old and lives in Dumfries, Virginia, USA. “I was told that I had lung cancer and of course it's just like somebody punches you in the stomach. It's horrible. You don't want to ever hear that.”
Debbie went to see the oncologist and had to undergo several operations in an attempt to remove the cancer from her lungs, together with bouts of chemotherapy. “When this happened [the cancer came back] the third time of course we were all very concerned and didn’t know what we were going to do.”
Dr Alex Spira, director of the Virginia Cancer Specialists Research Institute and Debbie’s oncologist, describes what happened next. “So we sent off a sample of her tumour for genomic testing,” he explains, “and the test revealed that Debbie had an NTRK fusion, which is a rare type of [DNA mutation].”
Because Debbie’s genomic test uncovered this mutation in her tumour tissue, Dr Spira and Debbie were able to map a treatment plan tailored to her unique cancer profile.
“The first thing I tell patients is you're not going to walk out of here knowing what your treatment is today. We need to wait for these special tests to come back. I explain to them why these tests are so important, because it will derive the exact nature of their treatment for their cancer. It will help identify the best treatment for them, and what's going to allow them to live the longest and live the best,” Dr Spira explains.
Jamal Tamer’s story
Jamal Tamer is 27 years old and lives in a small town in South Lebanon.
“Everyone has a dream, mine is to have a restaurant because I love cooking. It’s the most important thing in my life,” says Jamal. “I’m not married. Currently I am not working and in most of my spare time I’m at the gym, I do a lot of sports.”
Jamal describes how he came to know he had brain cancer: “Everything was normal at work and even outside work. Then I started having bad headaches, which led to me going to the hospital to get a check-up. Then we figured out that it was a tumour.”
After the first major surgery to remove the tumour, his cancer stayed at bay for five years. Then, his tumour came back – with a headache, dizziness and nausea. This time Jamal went to see Dr Hazem Assi, an oncologist from the Naef K. Basile Cancer Institute at the American University of Beirut Medical Center, Lebanon.
Dr Assi says: “Jamal was referred to us almost two years ago in April 2017. At the time, Jamal was suffering from a rare type of brain tumour. We were monitoring Jamal for a couple of months and we saw rapid growth of the tumour.
“So, we did the test and it was positive for a gene defect [mutation] which is very rare in this type of tumour – very, very rare. Usually we don't think about it in our routine practice.”
Jamal started a treatment and to Dr Assi’s and his surprise, after a few months, the tumour started to shrink and his symptoms improved. After almost a year, the tumour had significantly decreased in size, meaning that surgery was an option for him again, as well as radiation therapy.
#PutCancerToTheTest – tell us what you want to know about genomic testing
Everyone should be empowered 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, or someone they love, who has cancer. That’s why we’re raising awareness around cancer genomic testing with educational activities, and encourage you to use the hashtag #PutCancerToTheTest to tell us what you want to know about cancer genomic testing, if you or someone you know has been affected by cancer.
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
|Chemotherapy||Treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing.8|
|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|
|Radiation therapy aka radiotherapy||Radiation therapy (radiotherapy), is the use of high-energy radiation from x-rays, gamma rays, neutrons, protons, and other sources to kill cancer cells and shrink tumours.14|
|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.15|
|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.16|