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Issue 06 | June 2017
Strand Gene Word
What causes cancer? You Lifestyle Plays A Part
Retinoblastoma
In the News
Painless cancer detection could become routine thans to ‘liquid biopsies’
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Why genetic testing and genetic counselling are so important
Welcome back for another myStrand issue on all things cancer and genetics from an Indian perspective.
Earlier this month the who’s who of clinical cancer experts decended on Chicago, Illinois for Annual Meeting of the American Society of Clinical Oncology to discuss and deliberate on the latest advances in cancer research and treatment, including precision medicine and liquid biopsies for early detection of cancer.
June is also National Cancer Survivor Month and we salute all the brave cancer survivors out there. Each of your stories of battling cancer is unique and hearing your stories gives other cancer patients hope and confidence. If you would like to share your story with the myStrand and #StayAheadOfCancer communities, write to us at stayaheadofcancer@strandls.com. Unfortunately, as you can see from the data in our Knowledge Bite this month, Indian cancer survival rates are still a far cry from what they could be when compared to the US! Awareness of cancer risk and presence of hereditary cancer syndromes in the family as well as access to advanced treatment options are among the key factors to improve those survival rates, so don’t hold back and reach out if you are in doubt.
Please write to us with any questions about genetic testing or counselling as well as suggestions for topics that you would like to see covered in myStrand. You can reach us at strandlive@strandls.com or through any of the communication channels of our #StayAheadOfCancer campaign.
The myStrand team!
Inheriting Cancer Risk – A Case of AML
Ashok (not his real name) was 4 years old when he was diagnosed with acute myeloid leukemia (AML), a form of blood cancer. As it turned out, his family had a strong history of blood disorders, his father having passed away from the same disease. His paternal grand-uncle and grand-aunt had also been diagnosed with rare blood disorders. It was decided that Ashok would receive a bone marrow transplant, one of the most common approaches in treating blood cancer. In this procedure, Ashok’s bone marrow would be replaced with that from a healthy donor, so that any new blood cells that are produced are non-cancerous. Ashok’s healthy 6-year old brother was the closest match available. However, before going ahead with the bone marrow transplant, the doctors, suspecting that Ashok’s cancer might have a hereditary origin, decided to investigate it.
Genes and cancer
Cancer is a genetic disease. The cells that make up our body divide often and for a variety of purposes: to get rid of old cells, repair injured parts of the body, etc. The process of division is strictly controlled by the body to ensure that the right number of new cells is produced at the right place and at the right time. This control resides within the genes present in each and every cell. Environmental damage to these genes caused by carcinogens such as those found in cigarette smoke, radiation or pesticides could damage genes leading to defects or mutations. An accumulation of mutations can result in genetic malfunction, disturbing the fine balance of cell division and replication, eventually leading to uncontrolled cell growth and cancer.
Can you inherit cancer?
It has been observed that 5-10% of cancers are inherited – what that means is that there are families where several members will develop cancer at some point in their lives, in some cases at quite a young age. With a million new cancer cases every year in India alone, inherited forms of cancer number almost 10,000 cases. Why does this happen? Since close relatives share much of their genetic make-up, they have a higher chance of sharing damaging mutations as well. These mutations prevent them from effectively coping with environmental insults eventually leading to cancer.
Which types of cancer are inherited?
Several types of cancers can be inherited but the most common forms by far are breast and ovarian cancers, both of which affect women as well as a minority segment amongst men. A major fraction of the risk is related to two genes – BRCA1 and BRCA2 (breast cancer 1 or 2, early onset). Mutations in either of these genes confer a very high risk; up to 85% in some cases, of developing breast or ovarian cancer at a rather young age. However, these are by no means the only cancers that can be inherited. Scientists have identified around 75 crucial gene mutations that can confer risk of developing certain cancers, including some gastro-intestinal cancers as well as prostate cancer. Technology has now progressed to the point where a single test can assess an individual’s risk of inheriting these forms of cancer. The test, based on a technology called next-generation sequencing, works by checking the sequence of letters that form the 75-odd genes for cancer-causing alterations. It’s almost like a teacher looking for spelling mistakes in your essay.
Who should get tested?
So does it make sense for everyone to get tested to assess his or her risk? Not really! Even in situations where more than one member of a family develops cancer, the culprit is most often exposure to a common toxin, such as cigarette smoke. Inherited forms of cancer are suspected under rarer circumstances, such as when cancers occur at a young age in a family – as in the case of Ashok, or when a person has more than one type of cancer, or if unusual forms of cancer are seen, such as breast cancer in men. The right person to help you decide whether the test is appropriate for you is a genetic counselor, who will recommend the test based on your medical and family history. Genetic counselors can also help you with understanding the test results and formulating the next steps. If you are a person with a high-risk for developing hereditary cancer, vigilance is essential to catch the disease early with regular check-ups and screens. The greatest success in cancer treatment arises when the disease is caught and treated early.
Genetic testing makes a difference
Coming back to young Ashok, sequencing revealed a mutation in RUNX1, a gene that controls the way blood cells are formed. This mutation has been known to cause various blood disorders in other families and was most probably the cause of Ashok’s disease. His brother, who was being prepared as a donor, was also tested and found to have the same mutation, which put him at a higher risk of developing a blood disorder himself. Had the transplant been performed, Ashok would still be at a high risk for the cancer to recur! Luckily for him, the story ends well as his mother was found to be free from this mutation and was still a close enough match to be his bone marrow donor. Understanding the genetic basis of cancer can help in early diagnosis and set the course for treatment. As our understanding of the disease grows, we will be able to identify who is at risk and treat patients more appropriately with fewer side-effects and greater chances of success.
Disclaimer: The information provided in this article is in no way intended to replace expert medical advice. Always discuss the best possible course of action for your situation with your doctor.
June is National Cancer Survivor Month
A big salute to all cancer survivors around the country! June is National Cancer Survivor Month and here in India surviving cancer is still a huge thing when it shouldn’t be for many types of cancer. Thankfully, survival rates are slowly improving even here, and better awareness, more advanced screening, diagnostics, and testing as well as improved availability of targeted therapies should do their part in improving the still quite bleak outlook for many a cancer patient.
Genetic horoscope anyone? – Busting 4 myths about genetic counselling and testing
Genetic counselling and genetic testing are still fairly new concepts in India and to be honest, there aren’t so many genetic counsellors around yet. So far, the gap has been filled by doctors themselves or clinical geneticists in specialist clinics. We are now witnessing an emergent breed of specially trained genetic counsellors whose main role is to support patients through the whole process of genetic testing. Domestic medical schools have started offering Masters of Science courses specifically for genetic counselling and there is a Board of Genetic Counsellors in India that provides professional certification. This wind of change can bring nothing but improvements to the diagnosis and treatment of inherited diseases, as well as cancers. The improved counselling on the effects of genetic testing results on affected family members will hopefully also lead to better outcomes and healthier, happier families across the country.
However, just like many new things and new developments, there are plenty of questions to be answered and misunderstandings to be cleared up. So let’s clear the air and answer some of those open questions.
- Is genetic testing a painful procedure?
Now, this wouldn’t have been my first pick in this series until I attended one of our StayAheadOfCancer events recently and was faced with many unexpected questions about genetic testing. The answer to this particular doubt is a firm NO – unless of course you’re mortally terrified of having your blood taken or spitting into a plastic tube. Yes, you read correctly. For most hereditary disease testing (including that for hereditary cancer) a saliva sample is sufficient, and you can even provide that from the comfort of your own home. Head down to the featured video in this issue of myStrand to see just how easy it is. - Why should I see a ‘counsellor’?
Yes, the word ‘counsellor’ is often used interchangeable with that of a therapist or a psychologist, but when it comes to genetic counselling the ‘counselling’ part is highly specialized to the psychological impact that the knowledge gained from a genetic test can have on a patient and his or her family members. So no, there’s not going to be a couch, no Freudian insights or a flashback to your childhood traumas. However, what you should expect is talking to an expert at genetics and the heritability of different diseases. In fact all genetic counsellors are Masters-level educated professionals in genetics as well as emotional issues related to genetics, who
- are knowledgeable about the different genetic tests available for your condition,
- know how the results of a genetic test can impact the health of you, your family members and future children, and
- are specially trained to help you weather the emotional fallout from a genetic diagnosis for you and your family!
- Genetic counsellors are only here to make you order a genetic test.
No, they certainly are not. In fact, research has shown that when genetic counselling is made mandatory before a genetic test, the number of tests prescribed actually goes down and there are many good reasons for that:
- Genetic tests are not like your ordinary blood tests that a doctor orders for you. The results of a genetic test not only tell you whether you suffer from a particular disease, they may change the treatment you receive, have an impact on your family members as well and can even predict if you are at an increased risk for certain medical conditions. All this information needs to be dealt with carefully, and that is where the genetic counsellor comes in.
- There are lots of different types of genetic tests. Choosing the right one can be difficult even for a doctor who means well. A genetic counsellor’s specialty is to know everything there is to know about genetic tests, starting from which ones are available, which ones would be most suitable for a particular patient and their family to dealing with the results and making appropriate treatment recommendations. Sharing this information with patients and their families helps making an informed decision so that there are no unpleasant surprises later.
- Time to listen to your concerns about your health, answer your questions about why genetic testing should be done, explain how the test might affect your children, parents, aunts, uncles, and even your cousins. Time to talk about all your treatment and screening options after a genetic test result confirms a certain diagnosis or disease risk. And let’s not forget about the money, genetic testing is getting cheaper, but is still a significant cost to consider.
- If I’ve already had cancer, I don’t need to do genetic testing.
If you have already been diagnosed with cancer and your doctor recommends genetic counselling it is very important that you take up this opportunity to learn more about your cancer and how your diagnosis could impact other family members. Many genetic cancer syndromes don’t just cause a single type of cancer, like breast cancer for example. They also put you at a higher risk of getting other cancers, or the same cancer again later in life. It is therefore of the utmost importance that you are aware of and make use of the available screening options, which a genetic counsellor can explain to you in detail depending on the genetic mutation that is causing your cancer. More recently, targeted medicines have also become available that are only prescribed if a patient has a hereditary BRCA mutation opening up more treatment options, too.Similarly, if your cancer is caused by a genetic mutation, that same mutation might also be present in other family members and put them at a higher risk of getting cancer as well. Those family members can also be advised genetic testing to ascertain their risk status. In this context, it is important to point out that genetic counselling and testing is equally important for men and women, since both can inherit genetic mutations and pass them on to the next generation.
So, should you ever be asked to see a genetic counsellor, look at it as an opportunity to learn more about your medical family history and discuss all those concerns you were not able to bring up with your doctor or discuss with your family. You are bound to be a lot wiser and be assured that the results of the test you’re about to take, or have taken already, will be of real value to you and your family.
For more information about Strand Life Sciences and our genetic tests, call 1-800-1022-695 (toll-free in India) or write to us at stayaheadofcancer@strandls.com.
- If I’ve already had cancer, I don’t need to do genetic testing.
Strand Hereditary Cancer Test – How to provide a saliva sample for genetic testing
In one of our recent #StayAheadOfCancer awareness events, people asked us: “So how does this Hereditary Cancer Test work? Do I have to come to the clinic? What kind of sample do I have to provide?” Well, the answer to that question was simple: All we need is a bit of saliva provided in one of our test kits. Watch this video to see just how simple it is. You can even provide the sample from your own home. No need for hospital or clinic visits. Watch now!
