Hardeepsinh Rathod | MedGenome

The Silver-lining of Gene Mutations

A little while ago, a washing powder brand in India had come up with an advertisement ‘Daag Acche Hain’, meaning the stains are good. While the idea was if you need to get stains in order to do good to the society, then those stains are good, you have our washing powder to deal with it. Well, not the same basis, but there is an upside to cancer-related Gene Mutations as well.

We have always looked at gene mutations through a negative lens, probably because of the stories we have come across indicating that mutations are always “responsible” for cancer. While some gene mutations increase the risk of developing cancer, a lot of other gene mutations act as guiding insight for cancer management. In other words, these mutations provide information on the weakness of cancer. Clinicians can target these weaknesses for effective victory over cancer.

To begin with, let us look at the mutations that increase the risk of developing certain cancers. Even though they can’t be considered completely ‘good’ mutations, there is still an upside to them. Let us take the famous case of Angeline Jolie. There is a widespread misconception that she was diagnosed with cancer. The fact is that she just found out that she had a harmful mutation, which was based on the observation of a strong maternal family history of breast and ovarian cancers. She was tested positive for a gene mutation and took some measures in consultation with her Oncologist. However, the research has advanced, and currently, there is a class of drugs (called PARP inhibitors) are effective if there are hereditary BRCA1 or BRCA2 mutations. Not the biggest of upsides, but better than nothing.

One application of genetic testing in predicting the course of cancer, broadly referred to as ‘prognosis’ in medical terms. If there are certain gene mutations present in various cancers, it would mean that the cancer will be more aggressive (termed as poor prognosis). While it might look like a huge downside of gene mutations, the knowledge of it helps the doctor start aggressive treatment (in case of poor prognosis) or vice-versa. On the other hand, there are certain gene mutations that make the disease less aggressive (E.g IGHV gene mutation in Chronic Lymphocytic Leukemia). These can be completely classified as actionable mutations.

All of us have heard about the term targeted treatment. What it means, especially for cancer is accurately treating the cancer based on the gene mutations. In other words, these gene mutations act as targets for the anti-cancer targeted treatment leading to more informed treatment decisions by the oncologists. If we consider a case where we must free the hostages, obviously without hurting the hostages, but killing all the kidnappers, which approach will you choose? Open-fire or Sniping using a scope and shooting only post target identification? The answer is obviously the latter. Well, this is what the knowledge of genetic mutations does in the treatment of cancer. The shift from chemotherapy (open-fire) to targeted treatment (sniping post target identification) with accurate information available with a high confidence level.

While we might have looked at the gene mutations in bad light always, the silver-lining is that if we make the mutations our ally and use the information we gain from them, it helps us fight the war against cancer more effectively.

Not ‘Cancer Survivors’ but ‘Cancer Challengers’

Changing Scenario

When we hear the term cancer survivor, we form an image of a person who bravely fought cancer and defeated it. We have that notion of the difficulties that he/she had to go through due to chemotherapy or surgical interventions. The fact that cancer can be challenged head-on by virtue of targeted treatment is slowly picking up in India. Genetic Testing for various cancer types is enabling targeted treatment or what we call in the present age ‘Personalized Medicine’.

The journey of cancer treatment has come a long way from trial and error treatment to targeted therapy. Though there is a long way ahead to cover, the application range of genetic testing is converting it into mainstream testing for cancer patients. This is in turn changing the definition of cancer management- from surviving to challenging.

NGS-based Genetic Testing heading the charge against Cancer

A few years ago, the cancer management approach was based on the patient’s symptomatic outcomes and basic diagnostic tests. Today, in some cases like non-small cell lung cancer, testing for a genetic mutation in Cancer Patients has become a first-line approach to decide the class and generation of drugs to be prescribed. Certain gene mutations change the normal mechanism in which body functions and hence cause cancer. If these gene mutations are identified a proper course of action can be decided that precisely attacks the root-cause itself. This helps save a lot of time on deciding the course of action and helps clinician take a more informed decision on cancer management.

The decreasing costs of these tests are also adding to the increased acceptance. The first human genome sequencing costs $1 Billion, whereas the same can be done in a few thousand dollars. The test cost for smaller panels with a limited number of genes is further lower making it more accessible to the patients. A single gene test for cancer today costs even less than $ 100.

There are multiple success stories we come across where the take home message has changed from basic survival to fighting the cancer head to head. Getting cancer is not in our control but giving it a tough fight is.

Clarity at different Stages

It is a well-known fact that genetic testing is a lens that helps the clinician look at the cancer more closely. It is the clarity that genetic testing provides that helps the patients in different ways, may it be hereditary risk prediction even before the cancer has hit an individual or in the differential diagnosis, prognosis and therapy selection at an early stage or therapy monitoring and disease surveillance for relapse post the initial therapeutic steps.

Because of the awareness about hereditary breast and ovarian cancers (HBOC) in India, the acceptance of BRCA1 and BRCA2 gene mutation testing has increased manifold in the last few years. Though it has a therapeutic application, one of the most known applications is to evaluate the genetic mutation status that helps one understand whether he/she is at a higher risk of developing cancer in the future. Though some look at this as an unrequired knowledge, others pull their socks up and start preventive measures right up-front and be on high surveillance. This is the stage we have an upper hand over cancer in this head-to-head fight.

When it comes to early-stage cancer, what genetic testing provides in terms of clarity is the differential diagnosis, prognosis (to understand whether the cancer will be aggressive or not), and therapy selection, all having an application on the cancer management steps a clinician would take. An accurate differential diagnosis helps select a proper course of action, an accurate prognosis prediction helps a clinician understand the extent of aggressiveness of the treatment, whereas some gene mutations are indicative of which exact therapy to choose to combat cancer.

Routinizing Genetic Tests

While clinicians have increasingly started amalgamating genetic tests in their practices, there is a major portion of patients who are not aware of the broad applications of genetic testing. Being aware, sure, will be a first step towards changing the term ‘survivor’ to ‘fighter’.

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