Can Genetic Testing Reduce the Risks of Cancer through Timely Identification?

The consistent and extensive research conducted by scientists to decipher the complexities of the human genome and genetic testing has revealed that genes are involved in almost every aspect of human health, and almost all diseases have a hereditary component.

Typically, the diseases that are passed onto the offspring through parents or an acquired gene mutation due to environmental causes are known as genetic disorders.

In biological terms, a genetic disorder is a condition that is wholly or partially brought on by a deviation from the typical DNA sequence. A single gene mutation (monogenic disorder), numerous gene mutations (multifactorial inheritance disorder), a combination of gene mutations and environmental factors, or chromosome damage can all result in genetic illnesses, which lead to changes in the number or structure of entire chromosomes, the structures that carry genes.

Therefore, genetic testing has emerged as a crucial tool that can help people understand their genome structure and probable risks of critical diseases. For instance, cancer, which is one of the most dangerous and prominent illnesses in the modern world, is more often linked to hereditary or acquired genetic mutation.

Top oncologists today maintain that genetic testing has enormous potential to reduce cancer rates by identifying hereditary cancer patients who may have gene mutations that increase lifetime cancer risk for them and their family members.

Consequently, genetic testing is gaining significant prominence globally. According to the data published by the U.S. Department of Health and Human Services, the number of genetic tests performed in 2019 increased by 230% when compared to the number of genetic tests performed in 2016. Approximately 627,000 genetic tests were carried out in 2016 and were covered by Medicare. A total of 2.1 million tests were covered by Medicare in 2019.

genetic testing

The market for hereditary genetic testing in the U.S. is mostly devoted to kits, consumables, tools, software, and services. The development of cutting-edge technology in the field of hereditary genetic testing has been driven by the rise in test volume and the requirement for prompt and accurate results. When compared to conventional methods, advanced software and information systems provide deeper insights with a resolution that is substantially greater than ever.

According to the BIS Research report, the U.S. hereditary genetic testing market was valued at $7.57 billion in 2021 and is expected to grow with a CAGR of 13.09% and reach $29.28 billion by 2032.

Find more details on this report in this FREE sample.

As discussed previously, genetic testing is considered a crucial tool for the prevention of different malignancies. The article further goes into detail about hereditary factors involved in different kinds of cancers and the growing prominence of genetic testing in oncology.

Role of Genetic Testing in Identifying Mutations for Different Types of Cancer

A deeper understanding of the intricacies lying within cancer formation and growth has directly facilitated ushering in a new era of precision cancer care along with advanced diagnostic and screening methods such as genetic testing. The prominence of hereditary factors and genetic testing in different types of cancers are mentioned as follows:

1.    Breast Cancer: One of the biggest causes of cancer-related fatalities in women continues to be breast cancer. More study is being done on the disease's diagnosis and treatment because of growing public knowledge of the condition and how to manage it. Breast cancer and a few other reasons are included under tier one (tier 1) by the Centres for Disease Control and Prevention (CDC), demonstrating that there is enough data to warrant the use of hereditary genetic testing in clinical practice.

Figure 1 Risk factors involved in breast cancer for women

Breast cancer-specific biomarkers for cancer diagnosis have dramatically changed throughout time. The history of hereditary genetic testing is vividly illustrated by the ever-evolving stratification and treatment of breast cancer, which also greatly magnifies possible difficulties.

As novel targeted therapies and co-developing biomarkers are developed, algorithms for diagnosis and treatment become lengthier and more complex. Hereditary genetic testing must constantly evolve and develop in order to meet the needs of breast cancer patients in the future.

1.    Colorectal Cancer: Globally, colorectal cancer is the third most frequent cancer to be discovered, and it also accounts for the third most cancer-related fatalities. Since the middle of the 1980s, there has been a decrease in the age-standardized incidence rate of colorectal cancer, which is mostly ascribed to increasing screening and knowledge of the condition.

It has been determined that there is substantial evidence linking genetic risk factors to colorectal cancer. The CDC has designated Lynch syndrome, also known as familial adenomatous polyposis (FAP) or hereditary non-polyposis colorectal cancer (HNPCC), as a tier 1 disease.

Even though traditional cytotoxic medicines had previously been the backbone of colorectal cancer treatment, the development of targeted therapy as a result of NGS technology has led to an increase in the number of targeted medications. Hereditary genetic studies are necessary for most colorectal cancer treatments to identify the right patient population.

2.    Lung Cancer: The second-most common non-dermatological cancer reported in the U.S. is lung cancer. Although cigarette smoking has been established as the leading cause of lung cancer, it has been noted that 10% of patients do not smoke.

Although somatic mutations have been linked to lung cancer, inherited genetic alterations' function in the development of lung cancer has only sometimes been noted. The pathogenic genetic variations that cause lung cancer have been found to have autosomal dominant patterns.

The development of specialized lung cancer genomic testing  have been prompted by technological advancements in the diagnosis as well as by a growing emphasis on precision medicine. These tests support better therapeutic results and decision-making in medical care. Additionally, these tests emphasize the development of precision medicine.

3.    Melanoma: The fifth most common cancer in the general population, melanoma is the most prevalent kind of all cancer indications. In the U.S., it accounts for around 1% of all skin cancer diagnoses. According to statistics gathered between 2010 and 2019, the age-adjusted incidence rate of new occurrences of melanoma of the skin has been rising by an average of 1.2% annually.

The American Academy of Dermatology Association estimates that 10% of melanoma cases are caused by genetic mutations that could be passed down to future generations. More people are contemplating genetic testing as a practical option to detect the existence of disease because of rising understanding about disease diagnosis and management.


Around the world, there is a rise in the demand for early and preventative treatment. People now like to monitor their health and are more aware of it. More and more people are choosing to get a preventative screening as a result of the development of inherited genetic testing in determining the probable risks.

Interested to know more about the growing technologies in your industry vertical? Get the latest market studies and insights from BIS Research. Connect with us at  hello@bisresearch.com to learn and understand more.

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