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The Importance of Genetic and Genomic Testing for All Patients with Cancer

The Importance of Genetic and Genomic Testing for All Patients with Cancer

Genetic and genomic testing plays an important role in cancer care by offering physicians more effective treatment options tailored to the patient and tumor. Infrastructure and funding barriers, however, have limited access and implementation, particularly in resource-constrained regions. Notable presentations at the ASCO 2023 Congress will examine the strengths and weaknesses of genetic and genomic cancer testing.

Genetic and genomic tests both examine DNA, but provide different types of information and serve different purposes.

Genetic tests generally focus on particular genes or gene segments. They are often used to detect a specific disease, assess disease risk or determine whether someone carries an inherited disorder. Such tests commonly identify mutations or variants in particular genes or gene regions associated with genetic conditions.

Genomic tests examine a broader portion of genetic information, often the entire genome, meaning an organism's complete genetic material, or large genetic regions. They study relationships between genes, gene function and gene-environment interactions. They have become particularly important in cancer treatment because tumor genetic and genomic profiles can help identify treatments best suited to particular cancers.

In summary, genetic tests usually focus on specific genes or gene segments, whereas genomic tests examine a broader range of genetic information and interactions between genes. Both are important in diagnosing and managing genetic conditions and determining how to use genetic and genomic information.

The role of genetic and genomic testing in cancer treatment has grown rapidly, contributing to major advances, particularly in advanced disease and increasingly in screening, early detection and risk reduction. Genomic testing has consequently become prominent as a standard practice in areas such as prostate cancer.

In prostate cancer, genetic and genomic testing is critical to identifying personalized treatment options and tailoring management, even in early disease. Approximately 5-10% of cases arise under the influence of inherited factors, often associated with specific changes such as BRCA1 and BRCA2 mutations. Testing can identify these changes, so treatments such as PARP inhibitors may be considered, while the findings can also help identify cancer risk in other family members.

In the presentation, "Clinical and Therapeutic Implications of Genetic/Genomic Testing in Prostate Cancer," Dr. Cheng will discuss currently FDA-approved genetic and genomic tests, studies making them more applicable in earlier disease settings, and remaining questions about how and when to use them.

Even physicians who do not fully understand genetic and genomic technologies should inform their patients about these tests. You do not have to be a genetics expert, but you need to be able to discuss them with patients.

Dr. Cheng's session will clarify which patients with prostate cancer should currently be offered testing and which mutations could influence treatment selection. Making these tests accessible will help us better understand their potential.

When a genetic or inherited factor is involved, there is considerable potential to change the course of disease for the patient or their children. Intervening in an at-risk individual may prevent cancer. Equal access to genetic testing is a prerequisite, however; without it, this potential can never be fully realized.

Prostate cancer is not the only cancer in which genetic and genomic testing has advanced treatment. In 2014, the FDA, when germline (inherited) tests identified inherited BRCA mutations in patients with advanced ovarian cancer, approved olaparib . This underscores that all oncologists, whatever their specialty, need to understand how to apply these diagnostic tools.

The illustration below shows the proportion of hereditary cases in various cancers and the numbers of associated genes.

How much of cancer is hereditary?

Everyone should have access to these technologies and their benefits. Yet some people, particularly those with limited resources, may not believe they have a right to precision oncology because testing is difficult and resource-intensive. Although this is true, it should not be the focus of discussion. What matters is ensuring that everyone can benefit and identifying the strategies needed to achieve that goal.

The speakers will also emphasize the value of a multidisciplinary approach, recognizing that many specialists are needed to address the complexities of hereditary cancer testing. This includes improving access and managing challenges associated with panel testing .

Both events will take place on Monday, June 5. This approach is important for understanding and managing the future challenges of inherited testing and its broad effects on healthcare. Ensuring access for everyone is critical to realizing the advances that genetic and genomic testing promises in oncology.

Sources

1. Giri VN, Morgan TM, Morris DS, et al. Genetic testing in prostate cancer management: Considerations informing primary care. CA Cancer J Clin. 2022;72(4):360-371. Epub 2022 Feb 24.

2. Eastham JA, Auffenberg GB, Barocas DA, et al. Clinically localized prostate cancer: AUA/ASTRO guideline, part I: Introduction, risk assessment, staging, and risk-based management. J Urol. 2022;208(1):10-18. Epub 2022 May 10

3. Kim G, Ison G, McKee AE, et al. FDA Approval Summary: Olaparib Monotherapy in Patients with Deleterious Germline BRCA-Mutated Advanced Ovarian Cancer Treated with Three or More Lines of Chemotherapy Olaparib for Advanced Ovarian Cancer with BRCA Mutation. Clin Cancer Res. 2015;21(19):4257-4261. Epub 2015 Jul 17.

4. Rosen MN, Goodwin RA, Vickers MM. BRCA mutated pancreatic cancer: A change is coming. World J Gastroenterol. 2021;27(17):1943-1958.
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