Exacta – A Test to Accurately Screen The Cancer Mechanism


Cancer is caused due to the mutations in the genes – it is a disease of genes. Just like every human body, each person’s cancer is unique. However, the overall genetic makeup of a particular cancer tumor and the patient is not taken into consideration in the standard approach to the cancer treatment. It results in the failed therapies or aggressive relapse. Thus, it is important that genetic architecture of the cancer tumor is studied extensively before deciding the treatment plan.

This is where genetic screening plays a crucial role. DGL has introduced a high-precision test to screen the cancer – Exacta.

About Exacta

Exacta unfolds the deepest genetic secrets of an individual patient’s cancer by accurate, multi-coordinate analysis of all 22,000 genes in the cancer genome. Exacta reaches the depths of cancer’s mechanisms through 100s of millions of data points. It helps to reveal the driver mutations and pathways that are propelling a particular person’s cancer and can be targeted with precision drugs. Exacta thus enables a highly sophisticated treatment strategy beyond conventional perspective. This is the unmatched strength of Exacta. Exacta is the latest and world’s best molecular analysis for difficult cancers.

How does the test help?

It reports all pathways as per KEGG database to identify the most appropriate gene targets for therapy.

Indication of therapy resistance / Angiogenic / Proliferation / Metastatic / Recurrence Potential.

Gene expression of Primary and Metastasis tumours.

Whole exome analysis of Primary and Metastasis (all NCCN recommended genes and more).

Analysis of all miRNA in the cancer genome.

Whole genome analysis of mtDNA (Primary and Metastasis)

Mutation burden and telomere attrition / compromise.

Tests cytotoxic drug response / resistance of cancer genome.

Screens Germline metabolic response to cytotoxic / small molecule therapy.

Detects loss of Hetrozygosity / Micro Satellite Instability / epigenetic indicators.

This test is important where – 

  • The First Line Therapy has failed
  • Relapse of the cancer
  • High grade or metastatic cancer
  • The Risk of Therapy Failure is high.

It is now indeed important for cancer patients to undergo the screening before rushing into any treatment which may pose a severe threat to the health. Being well-informed helps in taking correct decisions.

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Pancreatic Cancer and genetics


Among the other lesser known types of cancers is pancreatic cancer. It is found in 1 per 100,000 people every year as opposed to the 80 cases per 100,000 people diagnosed by breast cancer which is one the most common cancer types in women.

Out of 232,000 people diagnosed with pancreatic cancer in 2002, 227,000 died by 2010, around the world. It is a fast growing and aggressive disease in which the death occurs within five years of the disease diagnosis.

Compared to the West, pancreatic cancer is less common in India, however, in the last couple of years, the rate of cancer cases has gone up. Almost all the cases diagnosed are in the last stage and chances of survival are zero. This cancer is usually found in old-age people.

Image credits -diseasesdata.com
Image credits -diseasesdata.com

Symptoms

By the time cancer is large, it is already grown outside the pancreas and then the symptoms start showing Cancer tumor is generally located on the head of pancreas – an organ that breaks down the food. So the cancer at the head causes symptoms such as jaundice, weight loss, itching, nausea,vomiting, dark urine, back pain, and abdominal pain. Pancreatic cancer in the tail or body of the pancreas generally causes belly and/or back pain and weight loss. Usually, cancers in head of the pancreas show symptoms earlier than the cancers in body or tail.

Pancreatic cancers are of two types – adenocarcinoma and neuroendocrine tumor. Steve Jobs was affected by neuroendocrine tumor – a rare form that is reported in just 5% of people diagnosed with pancreatic cancer.

Pancreatic cancer is diagnosed at a later stage in 89-90 percent cases and in such cases the patient can survive only for18-24 months.

Genetic causes of pancreatic cancer

Inheritance of cancer is one of the causes of pancreatic cancer. Inherited gene mutations are generally passed from parent to child. These mutated genes cause around 10% of pancreatic cancers along with other cancers. Familial pancreatitis is caused by mutations in the gene PRSS1. These mutations and risk factors can be identified using genetic testings like Hereditary Cancer Screening.

DNA mutations in cancer genes often occur after you are born. Most of these cancer causing mutations are after birth rather than being inherited. These acquired mutations sometimes result from exposure to cancer-causing chemicals. E.g. those found in tobacco smoke.

The risk factors like changes in the genes that cause cancer causing syndromes can be recognised by genetic testing.

Surgery, chemotherapy, radiation, and anticancer drugs are some of the treatments for pancreatic cancer that may increase the lifespan of the patients.

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Genetic Testing and Beta Thalassemia


When a year old Moinam’s parents noticed his pale appearance and tiredness, they consulted a physician near their home in Siliguri. His blood test showed alarmingly low hemoglobin count. But the doctor prescribed an iron-based tonic without concluding, thinking that he was suffering from a minor form of anemia.

However, later it was discovered that he had beta-thalassemia. Until he was recommended for stem-cell transplantation, he had to continuously undergo regular medication and blood transfusion.

After the stem-cell transplantation, his blood tests started showing positive results and his parents; who are carriers of thalassemia, were relived.

Just like Moinam, around 10,000 to 12,000 babies with major thalassemia syndrome are born each year in India.

It has been estimated that there are around 30 to 40 million carriers of beta-thalassemia in the country. In spite such alarming numbers, very little is known about this disease.

Because of the complexities, thalassemia is considered as a dreadful disease. However, isn’t it surprising that bollywood superstar Amitabh Bachchan also has thalassemia minor yet perfectly leading a normal life and continues to entertain us?

About Beta-thalassemia

Beta-thalassemia is a blood disorder that causes decreased production of hemoglobin, a molecule that carries oxygen throughout the body.

People with a mutation only in one copy of gene have thalassemia minor. Thalassemia minor results in zero or very slight anemia.

Thalassemia major occurs when child acquires two mutated genes, one from each parent.  Children born with thalassemia major usually develop the symptoms of severe anemia within the first year of life.

Beta-thalassemia is most common in African American, Asian, Hispanic, Mediterranean and Middle Eastern populations than other populations.

Effects

Reduced amounts of hemoglobin cause a shortage of red blood cells, called anemia. Severe anemia can cause a person to be pale, short of breath, easily tired, and have poor growth. Frequent infections and blood clots are also associated with anemia. The severe type of beta-thalassemia, called Cooley’s anemia, or beta-thalassemia major, causes life-threatening anemia, failure to thrive, poor growth, jaundice, and enlarged organs including the liver, spleen, and heart.

How it is inherited?

Beta-thalassemia is an autosomal recessive disorder, which means that a couple might have a child with beta-thalassemia only if both reproductive partners are carriers. When both reproductive partners are carriers of beta-thalassemia, there is a 25% chance of each child having the disease.

Beta Thalassemia inheritance

 

Genetic testing helps.

There are two tests available for testing if you’re either a carrier or a beta-thalassemia major:

  1. Complete Beta thalassemia (HBB) gene analysis:

This test analyzes the HBB gene for all the mutations that may cause Beta-Thalassemia, by Sanger sequencing.

2. Genetics Screening for Beta Thalassemia                    (5 common mutations):

 This test analyzes the 5 most common mutations in the HBB gene that may cause Beta-Thalassemia, by Sanger sequencing. These common mutations are the most common ones found in 90% of Indian population. Both of the above tests require a sample of 4 ml whole blood.

The results–

If you are a carrier of beta-thalassemia, the next step is to have your partner tested to check if she/he is a carrier too.
If your partner is tested and is not a carrier then the chance of the two of you having a child with beta-thalassemia is low. Speak with your doctor or genetic counselor for recommended next steps.
If your partner is tested and you both are carriers of beta-thalassemia, then there is a 25% chance that each child will have beta-thalassemia. This chance is the same regardless of your ethnic background or your family history.

Since beta-thalassemia is an inherited disease, your close family members are at increased risk of being carriers as well. It will be better for them if they get tested too.

What are the treatments?

 Treatment for beta-thalassemia includes regular blood transfusions. In some cases, a stem cell transplant can cure the disease. This is necessary to provide a temporary supply of healthy red blood cells with normal hemoglobin that the patient’s body needs. Nowadays, drugs designed to remove excess iron (iron chelators) have significantly changed the prognosis of thalassemia.

Apart from proper medication and keeping check on iron content in diet (as the iron overload may cause complications with major organs), a typical day in a life of child with beta-thalassemia is pretty normal.

Thus, medical advances continue and promise to improve the life expectancy and quality of life further for those living with thalassemia.

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