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

Program Overview
for Patients
for Clinicians
for Advocacy Partners

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 guarantee these standards are upheld at every program level.

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.

What’s the genome?

The genome refers to all of the information contained in an individual’s DNA. The human genome is approximately 3,200,000,000 bases long, and it encodes the blueprints for every cell in the body. The genome is highly regulated and very complex. Every cell in an individual has the same genome, so for proper function each cell must precisely control when and where specific genes are turned on or off. Different patterns in gene expression keep cells in your heart pumping and cells in your muscles taking in oxygen.

Biologists and computational scientists have identified ways of interpreting the genome to predict these functions. It has also been found that some patterns in the genome are linked to atypical biological function, which can sometimes impact a person’s health. These atypical genomic patterns are called variants.

Who has genetic variants?

Everyone!

On average individuals have ~300 variants. Some impact health, some don’t. Some have no impact at all. The only way to determine which variants an individual possesses is by sequencing the implicated region of DNA.

Can participating in research improve my treatment?

We don’t know, and you shouldn’t expect it to.

Scientific discoveries are difficult to predict, and we cannot promise that our research will develop a treatment for your condition in the near future. We do know that breakthroughs happen when dedicated minds pool together and fight for change.

What are the benefits of genome sequencing?

Genome sequencing captures over 85% of a person’s DNA – the most any technology can reliable achieve. Most other genetic testing options focus on a few variants at a time. For patients with hard to diagnose conditions, it often takes repeated rounds of this “panel” approach to find the diagnosis. If the variant is in the regulatory region, and not a gene, it may never be found. Sometimes all the gene-coding regions are assessed via “exome” testing. The exome makes up ~2% of the genome and does not include structural or regulatory variants. Genome sequencing is the only approach that considers all variants in a timely manner.

Additionally, genome sequencing benefits research. Because the entire genome is captured, it is possible to identify new variants for diagnostic testing or even therapy development.

Why should clinicians sign up?

Central to In-Depth Genomics’ philosophy is helping patients through their diagnostic oddyssey via their medical community.

  • Your registration helps highlight the diagnostic need of your patients
  • Your patients gain streamlined access to our free genomic sequencing programs
  • We can better direct patients to known experts in their diagnosed condition

Can IDG help me implement a sequencing program?

Yes! Please contact Plavi directly if you are interested in sponsoring a genetic research program for your patient community.

Plavi@InDepthGenomics.com

Will IDG notify me when Phase 2|Clinical Intake begins?

IDG will alert you of emerging opportunities specific to your patient community. Please take care while signing up to accurately capture the needs of your patients.

All members of Raring to Go! receive general program updates.

What are the benefits of genome sequencing?

Genome sequencing captures over 85% of a person’s DNA – the most any technology can reliable achieve. Most other genetic testing options focus on a few variants at a time. For patients with hard to diagnose conditions, it often takes repeated rounds of this “panel” approach to find the diagnosis. If the variant is in the regulatory region, and not a gene, it may never be found. Sometimes all the gene-coding regions are assessed via “exome” testing. The exome makes up ~2% of the genome and does not include structural or regulatory variants. Genome sequencing is the only approach that considers all variants in a timely manner.

Additionally, genome sequencing benefits research. Because the entire genome is captured, it is possible to identify new variants for diagnostic testing or even therapy development.

Why should advocacy organizations sign up?

Central to In-Depth Genomics’ philosophy is helping patients through community support. There are many ways that a large network supports patients in need of diagnostic testing. Here are a few ways Advocacy Partners’ support helps:

  • Your registration helps highlight the diagnostic need of your patient community
  • Patients already in your community may gain streamlined access to our free genomic sequencing programs
  • We can better direct patients to their organization after diagnosis, if they don’t already know about your efforts

Click here to register as an Advocacy Partner today!

Can IDG help me implement a sequencing program?

Yes! Please contact Plavi directly if you are interested in sponsoring a genetic research program for your patient community.

Plavi@InDepthGenomics.com

What kind of Advocacy Partner is In-Depth seeking?

IDG is looking for a variety of patient and disease advocacy groups. Our diagnostic program focuses on rare genetic diseases. As opportunities for patients groups arise, we will immediately open programs. Having a fleet of Advocacy ready to support our dynamic program optimizes the patients’ experience.

Can patients from our registry participate?

Any patient without a genetic diagnosis is eligible for participation in our program. All patients with undiagnosed symptoms, or with inconclusive genetic testing results are welcome to register.

Our patient community requires additional, non genetic, testing for a conclusive diagnosis; will this be included?

There are several biochemical and other tests included in our genomic sequencing program. Please reach us to find out if your specific test is included or not.

Will IDG notify me when Phase 2|Clinical Intake begins?

IDG will alert you of emerging opportunities specific to your patient community. Please take care while signing up to accurately capture the needs of your patients.

All members of Raring to Go! receive general program updates.