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Genetic testing may help healthcare providers quickly and more accurately diagnose patients — and, in many cases, identify the disease specific management most likely to succeed. This might be especially true for rare diseases.

Yet genetic testing has historically been seen as too expensive (and reimbursement from insurance companies unreliable), so mainstream healthcare providers shy away from ordering it.

That’s where an innovative new type of collaboration comes in: sponsored genetic testing programs.

These programs offer genetic testing at no charge to patients who meet medical criteria, enabling them to get testing — and potentially a diagnosis — no matter their economic status. Another benefit is that patients and healthcare providers don’t bear the burden of navigating uncertain insurance reimbursement for testing.

How does it work? Biopharma partners provide financial support for the testing, and receive de-identified variant and clinical information as well as contact information for healthcare providers who order through the program. (Patient identifiable information is not shared and healthcare providers have no obligation to recommend or prescribe any products or services.)

Behind the Seizure®: May enable early diagnosis and disease specific management in pediatric epilepsy

One such program, Behind the Seizure®, has enabled genetic testing for thousands of children who experienced an unprovoked seizure, improving diagnostic rates and enabling more targeted management that notably improve outcomes.

When a child presents with seizures, genetic testing may help identify one of the more than 100 underlying genetic causes, shortening the time to diagnosis and helping healthcare providers tailor care to a patient’s specific needs. More than 20 genes have been linked to specific treatments.

Some Behind the Seizure® participants received an accurate diagnosis 1-2 years sooner than historic averages.1

Early genetic testing may be the most cost-effective, direct, and accurate diagnostic tool.2 In a recent study of nearly 10,000 patients with epilepsy, as many as 24.4% received a definitive molecular diagnosis from genetic testing. Precision medicine implications were identified in 33% of individuals with a positive genetic result.3

“More than half of epilepsies are based in genetics. When a child experiences a seizure, performing genetic testing quickly using a comprehensive gene panel is a highly cost-effective and informative diagnostic tool. Quickly finding an underlying cause for infantile epilepsy can be crucial for making a difference for that patient with precision management and treatment options,” said Dr. Robert Nussbaum, chief medical officer of Invitae, a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae conducts testing for Behind the Seizure®.

The program has grown rapidly since it launched in 2016, when it first focused on testing children in the United States between the ages of 2 to 4. The program now includes an additional 9 biopharma partners, enabling the testing of children from 0 to 8 years of age in the United States and Canada. The program has also expanded internationally to Australia. Adoption among clinicians has also increased dramatically. Since launch, the program has delivered results for more than 9,000 patients.

The program demonstrates the power of collaboration among biopharma companies and has become a template for how partnerships like this can support accelerating diagnosis at scale.

An opportunity to connect patients with tailored treatments

As many as 30 million patients in the United States face barriers in obtaining an accurate diagnosis for rare disease.4 Sponsored genetic testing programs can offer a path to earlier diagnosis and improved treatment outcomes.

By accelerating patient diagnoses, sponsored testing programs like Behind the Seizure® may help connect patients with disease specific management earlier in disease progression.

Invitae currently offers more than 20 sponsored testing programs for patients suspected of having a variety of disorders. To discuss the possibility of collaborating on a program, please let us know.