Diagnosing rare disease just got a shortcut.

Raring to Go!

Registration open for all patients and clinicians.
We’re raring to go! Are you?
2055 Patients registered and counting

Revolutionizing the diagnostic
odyssey of rare disease

Scope

Phase 1 | Raring to Go

Now open, patients and clinicians are invited to join the IDG community.

Collect

Phase 2 | Clinical Intake

Patients work with a clinical provider to submit detailed health information and a bloodspot

Genomics

Phase 3 | Sequencing

Your DNA is sequenced to gain molecular insights about your condition

Discover

Phase 4 | Data Analysis

Once enough genomic data is collected we analyze it to inform diagnostics and research

In-Depth Genomics wants to understand the links between genetics and rare disease.

Genetic sequencing is raising standards for diagnosis and care

Whole genome sequencing reads over 85% of a person's DNA, more than 2.7 billion base pairs. Clinical geneticists compare each of these bases with patterns, called variants, known to change the DNA's function. Some of these variants are known to cause disease.

For thousands of rare diseases, variants in the DNA provide a precise diagnosis. For others, the link between genetics and health is more complex. It's common that many variants may increase risk for a single disease, yet no single variant alone can cause the disease directly. Other factors, like genetic elements or lifestyle choices, can influence this risk.

1 in 10 people have a rare disease

Genomic testing has the power to diagnose more than half of the 7,000 'rare' conditions that collectively affect more than 30 million people in the US alone. By integrating genomic results with their practice, physicians are better prepared to place patients on effective treatment plans. 

Despite the capabilities of genetic testing, patients wait an average of 7 years to receive a diagnosis for their rare neurological symptoms. This is more than a delay in diagnosis - it's a delay of intervention. Targeted therapies, especially for symptoms that affect young children, sometimes change prognosis...if they are implemented early enough. It is critical that we find a more efficient way to diagnose the rare disease community.

FAQ

What is the Raring to Go registry?

Raring to Go! is IDG’s rare and undiagnosed disease registry. In addition to helping us assess the need for diagnostics of rare diseases across US, it also serves as our beta testing platform for our next phase – sample and clinical data collection.

Who can register for Raring to Go?

Patients with rare or undiagnosed conditions, clinicians who manage these patients, and advocacy partners are all eligible.

Everyone is encouraged to sign up for our deep phenotyping program – Health Stories.
Please note that Health Stories and Raring to Go are separate programs. Your participation in both is welcome and appreciated.

Is IDG only focused on rare or neurological diseases?

Nope.

We are always exploring new ways of expanding our diagnostic and research programs.

Email Discover@InDepthGenomics.com to share your thoughts.

 

What are IDG’s research interests?

IDG supports research that can improve standards of care for rare disease patients. Historically, rare disease research has been slow to progress because many researchers cannot identify enough patients to demonstrate significant patterns.

IDG’s program can reach and diagnose thousands of rare disease patients. This is the perfect opportunity to collect genomic and clinical data that is needed to improve diagnostics and treatments.

Who sees my information?

We take your privacy seriously and never share personally identifying information with our research partners, clinical support team, or sponsors. Our team’s collective history in patient support and medical research guarantees that these standards are upheld at every program level. All team members are trained in HIPAA standards and procedures.

What information will be shared with third parties?

IDG does not share any contact details, identifying information, or patient information with 3rd parties.

What can I expect after registering for Raring to Go?

If you or your community fits the inclusion criteria of the next phase, we will invite you to sign up for clinical registration and sample collection.  Registering for Raring to Go does not obligate you to participate in the future, and you may choose to withdraw at any time.