Genomic testing gains traction

Decades after its debut, genomic testing is increasingly becoming a standard of care for personalized medicine – if providers know when to order them and patients can afford them. 

In March, Ochsner Health announced it would make genomic testing “a systemwide practice” for patients taking certain chemotherapy drugs. The test aims to help determine the effectiveness of roughly 200 medications in specialties such as oncology, cardiology, rheumatology, and infectious diseases. The Louisiana-based system is following in the footsteps of providers such as Atrium Health, which expanded its use of genomic testing last year, and Cleveland Clinic, which did so in 2021.  

Genomic testing looks for genetic and other biomarkers that can affect how a treatment works. It’s typically used to see if a targeted therapy can treat a specific mutation, primarily in cancer treatment but also in addressing autoimmune disorders. Notably, genomic testing is different from genetic testing, which looks for inherited genetic mutations that suggest an increased risk of a cancer diagnosis.  

The first genomic tests were introduced about 30 years ago for breast cancer treatment. Over the last decade, genomic testing has become a standard of care for leukemia, colon cancer, melanoma, and non–small cell lung cancer, according to Targeted Oncology. For example, since there are nearly a dozen biomarkers for lung cancer, a genomic test helps care teams determine which targeted therapy or immunotherapy may be the most effective first-line treatment.  

In 2022 the American Society of Clinical Oncology published updated recommendations for using genomic testing in cancer care. ASCO advocated for “testing early in the care of patients to guide cancer prevention or early intervention.”  

Unfortunately, fewer than half of patients who could benefit from genomic testing receive it, OncologyLive pointed out. (Exact figures vary depending on the type of cancer.) One challenge is that clinical guidelines change frequently, especially as additional therapies receive regulatory approval. Oncologists struggle to keep up – and so do the electronic health record systems that could recommend genomic testing at the point of care based on those guidelines. Test results are difficult to interpret as well; organizations without the resources to help patients assess results and determine the next steps in treatment may forego testing altogether. 

In part, this is why ACSO’s recommendations called for the adoption of clinical decision support for interpreting test results and shared decision-making tools for care teams and patients. “Increased implementation of genomic testing can contribute to clinical utility by building on comprehensive and curated genomic databases and deriving evidence to inform testing protocols, therapeutic options, and related clinical decision support,” the organization said. 

ASCO also advocated value-based reimbursement of genomic testing to address another hurdle to genomic testing access. Next-generation sequencing (NGS), which tests for multiple biomarkers at the same time, comes with a price tag that can approach $10,000. The American Cancer Society has noted only half of oncologists routinely discuss the cost of testing with their patients. (The price tag for treatment is another matter: Some targeted therapies can cost more than $1 million.) 

Testing may be worth the price, though. A recent analysis determined that NGS is more cost-effective than single-gene testing when it comes to identifying genetic mutations. This helps the push among leading health systems to make genomic testing available: It increases the likelihood that a treatment will succeed, improving clinical outcomes and quality of life for patients while reducing the cost of care. 

Brian Eastwood is a Boston-based writer with more than 10 years of experience covering healthcare IT and healthcare delivery. He also writes about enterprise IT, consumer technology, and corporate leadership.