What Is Genomic Testing? How Does It Drive Precision Medicine?

August 07, 2023

Genomic testing, also called biomarker testing, is a method of cancer care that examines the interactions between a patient’s genes to inform diagnosis and treatment. Genomic testing should not be confused with genetic testing, which considers a particular gene mutation.  

Instead, genomic testing takes a holistic approach, considering the patient’s entire genetic makeup to assess the risks of disease and the chance of progression or recurrence.  

Genomic testing is a relatively new technology that has become much more advanced, accessible, and widespread since the completion of the Human Genome Project in 2003. We’ve developed a better understanding of the genetic code of individuals, which helps us treat cancers in a way custom-tailored to the patient’s specific genome for maximum effectiveness. This methodology is known as precision medicine and forms a key part of modern value-based healthcare.   

The total cost of sequencing per individual human genome has fallen from $100 million in 2001 to under $1,000 today. The time required to generate a human genome sequence decreased from 122 days in 2003 to just one day in 2020. And the number of genomes sequenced per year increased from just one in 2003 to 228,000 in 2015. Precision medicine and genomic testing have seen considerable growth with these lowered costs and improved data. Market research estimated the 2016 global market for precision medicine at $44 billion in revenue, projected to more than triple and reach $140 billion by 2026. Genomic testing has also been highlighted as a public health priority by the World Health Organization and academic researchers.  

Genomic Testing in Oncology

Genomic testing is critical in oncology, where it is used to predict how a tumor may behave, how aggressive it is, and the risk of metastasis. In a survey of cancer care practitioners, 75.6% of oncologists reported using next-generation sequencing (NGS) genomic tests to guide treatment decisions and assess eligibility for clinical trials. For example, genomic therapy is now used in somatic sequencing for lung cancer, assessing mismatch repair in endometrial cancer, and germline testing for BRCA1/2 in several cancers.  

The patient’s genomic profile, combined with data from the entire patient journey via EHR, can help oncologists select personalized treatments for a precision medicine solution. Integrating information gathered by genomic testing with patient population data can also play a key role in addressing health equity, a priority under value-based care initiatives and reimbursement programs.  

How to Get Started With Genomic Testing

Making the most out of genomic testing in your practice requires understanding its value in clinical practice and life sciences, along with an efficient way to view and use the relevant data. The best approach is to partner with a suitable technology partner that can offer a software solution with the following features:  

  • Data & Analytics: Genomic data alone won’t do the job. An effective platform will combine this with real-world data from EHR, drug trials, claims, and more to inform decision-making with a longitudinal view of the patient journey 
  • Operational Infrastructure: A powerful precision medicine platform should be set up to optimize data flows and quickly identify knowledge gaps and areas for improvement 
  • Interdisciplinary Expertise: To tailor to your specific needs and deal with the complex network of healthcare stakeholders, your partner team should cover a range of expertise, including oncology, tech, data, finance, and regulations 

Ideally, you want to hit the ground running with a partner that has extensive experience in precision medicine for oncology. This will help you get the optimal results for integrating genomic testing into your practice.

Learn more about how tracking quality measures can accelerate precision oncology.

Experts agree that by implementing tools and technology, practices can accelerate value-based care initiatives, support personalized medicine advancements, and drive better patient outcomes. 

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