Benefits of Molecular Testing in Rare Cancer

Neethu Sheri Kurian

Content Specialist
4baseCare

Molecular testing is becoming an increasingly significant aspect of every cancer patient’s diagnosis. It entails determining the presence of DNA, RNA, and/or proteins in a patient’s cancer. Distinct aspects of the tumor, typically attributable to specific genetic mutations, are increasingly influencing the treatment of individual cancer patients.

Patients with rare cancers encounter significant hurdles, such as delayed or inaccurate diagnosis, clinical decision-making uncertainty, and less effective therapy options, thus molecular testing will be quite beneficial.

Benefits of Molecular Testing:

1. Make an accurate and timely diagnosis while minimizing unnecessary clinical investigations. 
2. Assists the clinician in identifying the best course of treatment and support for the patient.
3. A definitive diagnosis may provide a great deal of comfort to patients and their families, particularly if they have been looking for an explanation for a long period.
4. A negative genetic test result might provide a person peace of mind that they did not inherit a harmful gene variation.
5. A positive genetic test result allows the person to adopt early preventative measures and observe for any cancer symptoms if they appear.
6. It can help patients to figure out whether they have a genetic mutation that puts them at risk for certain hereditary rare cancers.
7. For patients who have already been diagnosed with cancer, the results of molecular testing may assist them in making personalized treatment decisions and understanding their risk of developing subsequent cancers.
8. It gives family members the opportunity to learn about their individual cancer risks.

For example: Breast cancer is rare in males, therefore genetic counseling and testing for BRCA mutations are frequently offered to men who get cancer. Although having a mutation is less likely to affect a man’s future health than it is in a woman’s, it can increase his risk of diseases like prostate and pancreatic cancer.

It can also be beneficial for a man’s close relatives (parents, siblings, and children) to know whether he has a mutation and if they are at risk. If a person has a BRCA mutation, their near relatives have a 50% risk of also carrying the mutation. They may want to be tested for the mutation, or even without testing may wish to start screening for certain cancers early or take other precautions to lower their risk of cancer.