Scientists have made remarkable progress in understanding the thousands of genes inside our cells and the link they may have to cancer. Researchers continue to discover patient-specific characteristics that allow for customized care and personalized treatments.¹ These advances in cancer care include genetic and genomic testing. Routinely, the terms genetic and genomic testing are interchanged, but they have distinct yet complementary roles.¹˒²

Genetics focuses on the study of genes inherited from family members across generations. Every cell in the human body contains deoxyribonucleic acid (DNA), which houses thousands of genes. Genetic testing examines the genes in a patient’s DNA for mutations, or genetic changes, which can be used to assess an individual’s lifetime risk for cancer or other illnesses.² Typically, providers collect blood or saliva samples for genetic testing because these samples are easy to obtain and contain the DNA needed for testing. In addition to determining cancer risk, genetic tests can guide preventative care.¹ For example, individuals with a family history of breast cancer might undergo genetic testing for BRCA1 and BRCA2, the most common mutations associated with the disease. If the patient has either one of these inherited mutations, they can initiate a combination of early monitoring, lifestyle changes, or surgery to reduce the chance of developing cancer.²⁻⁴ To put this into perspective, studies have shown that more than 60% of women who inherit a BRCA1 or BRCA2 mutation may develop breast cancer at some point in their lives, while only 13% of women without the mutation may develop breast cancer.⁵ Although the presence of the genetic mutation significantly increases the risk, it does not guarantee that an individual will develop cancer. 

Genomic testing, also referred to as molecular or biomarker testing, focuses on genetic changes specifically within the cancer cell DNA. This approach is central to precision medicine, which tailors treatments to the individual characteristics of each patient’s disease.¹˒⁶ To obtain the cancerous cells, a tissue biopsy or bodily fluid (e.g., blood, fluid buildup in the abdomen) may be collected.⁷ Sophisticated laboratory techniques, such as next-generation sequencing (NGS), identify mutations inside the cancer cell. Drugs that target the specific mutation found, are often used to treat the cancer. For example, when a provider orders an NGS test for a lung cancer patient they may discover an epidermal growth factor receptor (EGFR) mutation. For non-small cell lung cancers that test positive for the EGFR biomarker, studies have shown that using a drug that targets the EGFR mutation upfront significantly improves progression- and disease-free survival compared to standard chemotherapy.⁸⁻¹⁰

By selecting drugs customized to the patient’s cancer, providers deliver highly personalized care that may improve outcomes and reduce costs associated with suboptimal treatment. This approach minimizes expenses associated with trial-and-error treatment and frequent therapy adjustments.¹¹ A recent study highlights the financial impact of selecting non-targeted therapies due to undetected mutations. Investigators found that the per patient costs associated with inadequate therapies were $6,455, $6,566, and $6,569 over the first one, two, and three years of treatment, respectively.¹²

Genetic and genomic testing each play a crucial role in matching patients with treatments most likely to yield the best clinical outcomes. As precision medicine continues to evolve and more targeted therapies enter the market, cancer care is transforming. By embracing these advancements, payers, providers, and health care teams are better equipped to provide valuable and effective care for patients. 

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