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Looking Ahead: The Future of Diagnostic Testing for Patients

By January 7, 2024No Comments

By: Anthony Sireci, M.D., senior vice president, clinical biomarkers and diagnostics development, Loxo@Lilly

Over the last fifteen years, the introduction of precision medicine has generated renewed hope for cancer treatment. We know that targeting actionable alterations in cancer patients may lead to clinical benefit. The emerging practice of personalized medicine has moved cancer care from a “one-size-fits-all” approach to a more individualized experience. 

The Value of Comprehensive Genomic Profiling in Cancer Care 

With the increase in the number of available targeted therapies in cancer, a full understanding of the genomic drivers of a person’s specific cancer is more important than ever before. Comprehensive genomic profiling (CGP) plays an essential role in ensuring patients get matched to the right treatment at the right time, based on their biomarker status. CGP includes the use of next-generation sequencing (NGS) technologies, which can look at multiple genes simultaneously in a tumor sample to potentially provide a more accurate diagnosis and treatment guidance compared to a single gene test approach, which is less efficient, particularly in lung cancer. Although the beginning of a cancer diagnosis can feel overwhelming, it is often the most important time to discuss biomarker testing with a patient’s care team. 

The National Comprehensive Cancer Network (NCCN) recommends a list of genomic alterations to test for in eligible patients with advanced or metastatic non-small cell lung cancer and CGP is one way to test all of these alterations in a single tissue sample. However, despite this guidance, CGP still remains underutilized and there is still work to be done to ensure increased access to treatment. 

So, what is needed to help make broad based molecular testing of all eligible lung cancers, preferably by a CGP method, the standard of care that it should be? 

A Path Forward to Broad Based Molecular Testing as the Standard of Care

Genomic testing following a lung cancer diagnosis should be customary – especially for people living with non-small cell lung cancer (NSCLC). More than 50% of patients with NSCLC will have an actionable genomic target within their tumors that may be targeted by FDA-approved treatments. However, due to underutilization, some patients are missing the opportunity to receive precision therapies early during their treatment – or perhaps ever. It is important to acknowledge existing barriers to testing that can limit a patient’s access to precision oncology treatments.

The process to adapt broad molecular testing platforms like CGP as a standard of care must be collaborative. Together, we need to work closely with a diverse set of healthcare partners such as health system stakeholders, diagnostic companies, doctors, patients, and advocacy leaders to push for efficient use of CGP. 

We must continue to push payers to loosen restrictive coverage policies and widen insurance coverage of molecular tests like CGP to increase access to treatment. Discussions should include the clinical and economic significance for CGP and the impact on the healthcare system. We need to collaborate closely with regulators to make sure high-quality testing is available while ensuring the oversight does not burden patients and providers and restrict access. 

Working to make testing easy-to-use may encourage more practitioners to order molecular testing like CGP and encourage patients to ask for it. By partnering with assay developers and in vitro diagnostic (IVD) manufacturers to help standardize these technologies, we can make genomic testing “less sexy” and more likely to be standard use at the point of histologic diagnosis. 

We must focus education on the impact of early CGP and the value of closing clinical practice gaps. Patients and healthcare professionals (HCPs) should feel equipped with powerful tools and resources to make informed treatment decisions. We must continue to underscore the weight of data-driven treatment decisions and early testing. We should urge HCPs to adopt CGP in accordance with clinical guidelines that push for making this routine care. 

In the Meantime, Advocate for Yourself

Precision medicine is still a rapidly evolving space. Now more than ever, patients are encouraged to take an active role in their treatment decision making. It’s critical that patients understand that the information from broad molecular testing like CGP can be empowering. A patient’s role during early decision making is key. We must continue to support patients so that they feel prepared to ask the right questions at the right time to inform their treatment journey.

Guest Author Bio:

Anthony “Nino” Sireci, M.D., senior vice president, clinical biomarker and diagnostics development, Loxo@Lilly. Dr. Sireci is a board-certified clinical pathologist and a practicing molecular pathologist. Prior to joining Loxo@Lilly, he was an assistant professor of pathology and cell biology at Columbia University and a medical director in the Laboratory of Personalized Genomic Medicine at Columbia Medical Center. He is an active member of the Association for Molecular Pathology (AMP), where he serves as the vice chair for new codes and pricing on the Economic Affairs Committee. He is also a member of the Pathology Coding Caucus in the College of American Pathologists (CAP) and the Molecular Pathology Advisory Group in the American Medical Association (AMA). Dr. Sireci received a B.A. in chemistry from New York University and an M.D. from the Johns Hopkins University School of Medicine. He completed his residency training in clinical pathology at the New York Presbyterian Hospital-Columbia University Medical Center where he also served as chief resident. During this residency, he also received an M.Sc. in biostatistics from the Mailman School of Public Health at Columbia.

 

References:

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