What is cancer genomic medicine? (for beginners)

What is cancer genomic medicine?

Cancer genomic medicine refers to medical care where genetic mutations are comprehensively examined using cancerous tissues and other materials to tailor treatment to each individual’s constitution and medical condition. Conventionally, treatments are determined by the location of the cancer (organ). However, in cancer genomic medicine, treatment is carried out in accordance with the relevant genetic mutation.

Cancer genomic medicine usually involves collecting tissue and blood samples, performing the necessary tests, and explaining the results to the patient after a diagnosis is made by a doctor. Patients who have consented to a treatment method proposed by a health care professional are then administered a drug that is effective against the targeted genetic mutation.

What is the current state of specimen collection?

In the past, a biopsy or surgery was required to collect specimens, which places a heavy burden on the body to extract the tissue. Recently, however, it has been discovered that DNA derived from tumors can also be collected from blood and urine, and now a “liquid biopsy” in which these specimens are used for testing can be employed even in routine medical care. In addition to this kind of method, ATLAS is conducting research for obtaining genetic information on tumors using a variety of techniques.

What is the current state of cancer genetic testing?

Traditionally, a “companion diagnosis” was performed to determine whether a specific molecular targeted drug is effective, during which only the presence or absence of a specific genetic mutation is tested from a specimen taken by a biopsy. However, advances in analytical techniques have made it possible to examine many genetic mutations at once. This is called cancer gene panel testing (cancer genome profiling test). Cancer gene panel testing has made it possible to obtain multiple pieces of genetic information in a short time using a device called a next-generation sequencer.

What is genetic counseling?

The advent of cancer gene panel testing has now made it possible to discover the presence of genetic mutations that were not originally targeted or to obtain unexpected information about one’s own family members. Providing appropriate information and psychological care in relation to various concerns and apprehension relating to such heredity is referred to as “genetic counseling.” Although genetic counseling is not necessarily available to all, genetic counselors provide appropriate assistance to those who wish to receive it.

What is the current state of gene therapy?

As research on oncogenes has progressed, it has become clear that cancer is caused by various mechanisms. At the same time, it is also recognized that cancer is caused by a common mechanism in different organs.

In conventional cancer treatments, cancers have been categorized by organ, and treatment methods have been suggested accordingly. In contrast, treatment methods in recent years are increasingly being suggested according to the type of genetic mutation. This is called tumor-agnostic therapy. As genetic analysis progresses and more data is accumulated, there is a greater likelihood that vital treatments will be delivered to patients. In addition, the aforementioned liquid biopsy allows doctors to understand changes in disease and the effects of treatment in a timely manner with less burden on the patient, and therefore it is expected that the accuracy of follow-up of treatment will also improve.