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Ensuring Access to Genetic Testing

New report investigates barriers, proposes solutions

Ensuring Access to Genetic Testing
August 7, 2020
A new study sponsored in part by Illumina, the Personalized Medicine Coalition, the Blue Cross Blue Shield Association and Concert Genetics takes a hard look at how healthcare gaps can limit patients’ access to genetic testing. While health insurance coverage can be a significant barrier, the study paints a much more complex picture. Even in regions with adequate insurance coverage, patients don’t always receive key genetic tests that could drive better treatment.

Genomic insights are potentially transformative to human health, and everyone should have the opportunity to benefit from the power of precision medicine.

“Genomic insights are potentially transformative to human health, and everyone should have the opportunity to benefit from the power of precision medicine,” said Ammar Qadan, Vice President of Global Market Access at Illumina. “Despite insurance coverage and reimbursement improvements, genomic-based, precision medicine remains inaccessible to most people. This important study highlights that increased adoption takes more than just favorable coverage policies, and Illumina is committed to enabling broader access to genomics through education, outreach and key partnerships.”

Clinical sequencing technologies, which identify gene mutations that contribute to disease, can be a game changer for many patients, informing treatment and personalizing care. Combined with a patient’s medical history, genomic data can improve outcomes in cancer, reproductive health, rare genetic diseases, infectious diseases and other areas.  

Illumina has been working to make sequencing more accessible by developing instruments and other products that reduce costs and simplify analysis. However, even with these ongoing advances, many patients lack access to genomic sequencing.

To better understand potential testing barriers, Illumina and its partners sponsored a comprehensive study, entitled Understanding Genomic Testing Utilization and Coverage in the U.S., to identify causes and suggest solutions. Focusing on oncology, rare genetic diseases and noninvasive prenatal testing (NIPT), the study illuminated a complex testing landscape.

“If you ask physicians why they don’t use genomic tests, a very frequent answer is usually lack of insurance coverage and a concern about the testing placing additional financial burden on their patients. We know that improved reimbursement does drive genomic utilization,” said Phil Febbo, Illumina’s Chief Medical Officer. “However, this new evidence underscores that insurance coverage may be necessary but is not sufficient for widespread adoption and access.”

The study showed that, in addition to coverage problems, there are several issues at play. In some places, providers, patients and policymakers may not fully understand the benefits or availability of appropriate genomic tests. Layered on top of this is varying medical society guidelines, where two societies’ recommendations for the same clinical application may differ, causing confusion among physicians.

In addition, many patients may lack geographic access to genetic counselors and other specialists. Racial, ethnic and economic disparities also contribute to the problem, as do concerns over data privacy.

“This is a three-part problem,” said Febbo. “If identifying a genetic mutation is actionable – in other words treatable – providers are morally and ethically bound to treat it. But before we even get there, we need to improve accessibility to genetic tests and awareness of how helpful they can be. If a patient has dangerous mutations, but remains untested, those anomalies will continue to disrupt that person’s health and quality of life.”

Now that Illumina and partners better understand the factors contributing to reduced patient access, we will start moving forward with solutions, such as education and clinical research to show providers and patients how valuable these tests can be. Additionally, one important area for improvement is creating consistency and easing administrative hurdles among insurers by creating an automated, streamlined and integrated way that connects the payer to the hospital to the physician to the lab performing the test expeditiously.

We are committed to investing in our communities and determined in our purpose driven strategy to improve human health by unlocking the power of the genome.

The group will also work to mitigate socioeconomic and other barriers to care and support efforts to increase the number of genomic specialists in underserved regions. In addition, Illumina and others will work closely with legislators, regulators and others to guide sound genomics policies.

“We are working with our partners and many other stakeholders to ensure that all patients who need genetic testing have access,” said Kathleen Lynch, Vice President for Global Government Affairs & Public Policy at Illumina. “That means our regulatory, market access and government, clinical and medical affairs teams all working together to show that genetic testing is a profoundly effective way to improve healthcare and reduce costs.”

“We are committed to investing in our communities and determined in our purpose driven strategy to improve human health by unlocking the power of the genome,” notes Jacquie Ross, Vice President of Communications, Investor Relations and Corporate Social Responsibility at Illumina. “As such, we are doing our part to build a better world by breaking down barriers to increase access and championing the needs of our communities.”

Learn more about our CSR initiatives, here.

Read the press release, here.

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