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Genomic Testing

What is Genetic testing?

Genetic testing, Genomic Testing, is a test to examine a person’s risk of developing hereditary disease or to tailor personalized medication.

The process of analyzing the DNA of cells or tissues to look for genetic changes that may be a sign of a disease such as cancer.

For example, testing mutations in the BRCA gene for early detection or preventing the development of breast cancer.

What is Gene? What is Genome?

Gene is a fragment in the DNA strand that encodes physiological features, for example, eye color.

The genes genes are inherited upon cell division when the DNA molecule replicates, and each new cell receives a copy of the replicated DNA.

Genome is the full system of all the genes in an organism.

In humans, all genes are located on structures called chromosomes. Chromosomes are complexes of DNA and proteins bind to each other.

Almost every cell in the body contains a complete copy of the genome. The genome contains all the information a person needs for development and growth.

The Genome study provides an understanding of how cancer cells are formed and respond to therapy.

People with different genetic will respond differently to a particular drug.

For example, So certain drugs that are not given to people with certain DNA mutations.

What is a Mutation?

Mutation is a change of the DNA sequence in the cell.

Mutations can be caused by errors during cell division, or they can be caused by exposure to substances harmful to DNA (free radicals, asbestos, etc.).

Mutations can be harmful, beneficial, or have no effect.

When they appear in egg or sperm cells, they can be inherited.

Sometimes cancer is seen in families more often than was randomly expected (coincidence). This cancer often occurs at a young age, and may indicate the presence of a genetic mutation that increases the risk of cancer. It also constitutes a sign of environmental factors affecting life in a common environment.

If mutations occur in other types of cells, they are not inherited and are called somatic mutations.

Mutations can lead to cancer or other diseases

When is it important to perform genetic testing?

Why it is important to do genetic testing?

In cancer, personalized medicine uses the patient’s specific disease characteristics and medical background to form a personalized therapy program.

Read our publications on genetic and genomic testing and other innovative treatments for  cancer:

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Does genetic test extends the lives of Pancreatic Cancer patients?

Currently, it does not seem so and so one should think and think again about doing them especially for their high cost.

Published on March 02, 2020

Background

About 25% of pancreatic cancers harbor actionable molecular alterations, defined as molecular alterations for which there is a specific available therapy or drug that is based on evidence of a predictive benefit (note, not proven).

This was a retrospective study

Why should retrospective studies be approached with caution?

Retrospective studies have disadvantages – therefore, their results are not conclusive and reliable enough to make a consented treatment decision.

Retrospective studies are designed to analyze pre-existing data, and are subject to numerous biases as a result:

  • Inferior level of evidence compared with prospective studies
  • Controls are often recruited by convenience sampling, and are thus not representative of the general population and prone to selection bias
  • Prone to recall bias or misclassification bias
  • Subject to confounding
  • Cannot determine causation, only association
  • Some key statistics cannot be measured
  • Temporal relationships are often difficult to assess
  • Retrospective cohort studies need large sample sizes if outcomes are rare.

About the Study

The researchers sought to retrospectively determine whether patients with pancreatic cancer whose tumors harbored such actionable molecular alterations and who received molecularly matched therapy had a longer median overall survival than similar patients who did not receive molecularly matched therapy.

Results

  • 46 patients with actionable molecular alterations who received a matched therapy had median overall survival of 2·58 years as compared to 1·51 years in 143 patients who only received unmatched therapies.
  • The 46 patients who received a matched therapy also had 2·58 years overall survival vs 1·32 years in the 488 patients who did not have an actionable molecular alteration.
  • However, median overall survival did not differ between the patients who received unmatched therapy and those without an actionable molecular alteration.

Conclusions

  • To date, there is no evidence that molecular genetic testing actually contributes to better treatments that extend the life of pancreatic cancer patients.
  • The most relevant test for pancreatic cancer today is a BRCA test and can be done at the pathology institutes of the medical centers, until proven otherwise.
  • A therapeutic strategy based only on genetic testing in pancreatic cancer patients is merely one and is unproven strategy and therefore other advanced treatment options with cancer treatments and drugs that work in other strategies should be explored.

The best treatment for a cancer patient is to get the most advanced cancer drugs in advanced stages of development. There, the hope and the chance to extend life go far beyond the standard protocols.

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