Genomic Testing: Things to Know

Genetic testing examines the relationships between a person's genes and the implications for their health. It differs from genetic testing Because genomic testing examines all of their DNA rather than only looking for a single gene mutation. 

The rapid development of genomic technologies has resulted in the creation of increasingly advanced and effective genetic testing methods. Thus, it is anticipated to fuel the market growth. In addition, according to a research report by Astute Analytica, the Global Genomic Testing Market is likely to grow at a compound annual growth rate (CAGR) of 9.54% over the projection period from 2023 to 2031.  

What Is the Purpose of Genomic Testing? 

The basis for genomic testing is the present understanding of the human genome. The cooperative Human Genome Project, which ran from 1990 to 2003, catalyzed this process. 

A suspected genetic issue can be confirmed or ruled out by genetic tests. A step further is provided by genomic testing, which offers: 

• Prognostic indicators can forecast a disease's rate of progression, likelihood of recurrence, and likely course of action. 

• Risk Indicators to detect diseases 

• Response indicators to assess the effectiveness of different therapies 

• Using predictive markers to inform treatment decisions and minimize toxicity 

Although genomics focuses on the effects of our genetic makeup independently of all other circumstances, it is not applied in isolation. 

How Genomic Testing Operates? 

An examination of genetic "hot spots" or complete gene sequencing are both common options for genomic testing, which is often provided as a panel of targeted genes. 

The typical turnaround time for results, once the sample has been collected, is one to four weeks. 

A genetic counselor may be available to assist people to comprehend the test's limitations and what the results imply and don't signify, depending on the condition being treated. 

Genomic Testing in Cancer 

Treatment and management of various cancer forms, such as breast cancer and lung cancer, now include genomic testing regularly. 

Genetic tests may aid in predicting: 

• How quickly a tumor will expand 

• The way a tumor behaves 

• How likely it is that a tumor will spread 

This is significant because tumor cells have a high rate of mutation. Even though a tumor results from a single genetic mutation, the disease itself can have many diverse outcomes, some of which are aggressive and others not. 

A genetic test can determine whether a tumor's mutation is responsive to targeted therapy if it changes abruptly. For example, Nerlynx (neratinib), a medication intended to target and treat breast cancer in its early stages is HER2-positive. 

Next Generation Sequencing 

The main technique for doing genomic testing is next-generation sequencing. 

Next-generation sequencing is frequently used to sequence the entire genome. However, it is also incredibly versatile and can be used to sequence just a few genes, such as those for a hereditary breast cancer panel to screen for rare disorders 

While the majority of labs only publish findings that are pathogenic or highly likely to be pathogenic, some additionally give unsure, highly likely benign, and benign findings. There would also be a professional geneticist's interpretation.