Happy holidays! Please be advised that in-transit patient samples will be held by the carrier on Dec. 25 and received by our lab the next day. Kit orders placed on Dec. 25 will be sent on Dec. 26. Our genetic counseling services, client services, and billing services will be unavailable Dec. 24-25; please leave us a message at 888-729-1206 or support@genedx.com and we will respond when we return.

Now available: GeneDx Discover

We’re pleased to announce the launch of GeneDx Discover, a first-of-its-kind visualization tool to support the drug development process.  

Powered by GeneDx’s unmatched database, the new solution visualizes de-identified, aggregated genetic and real-world data to enable a deeper understanding of the characteristics of target patient populations of interest.  

With Discover, GeneDx now offers an end-to-end solution for pharma companies. 

Partner with GeneDx to access one of the deepest, most sophisticated rare disease datasets, comprised of:

Partner with GeneDx to access one of the deepest, most sophisticated rare disease datasets, comprised of:

>5M

phenotypes

>1.5M

unique samples interpreted

>700K

clinical exomes and genomes sequenced

Robust solutions that can be customized for each step of the drug development cycle – from early research and development to clinical trial recruitment and more.

Find

Leverage our unmatched dataset to find the clinicians and patients you’re looking for.

Explore

Use clinicogenomic data to inform the drug discovery process and cohort builders to inform market insights.

Partner

Joint programs aimed at increasing access, accelerating diagnosis, and finding patients.

Learn how others have leveraged our unique insights to accelerate therapeutic development 

Clinician & patient outreach program

We partnered with GeneDx on clinical trial outreach for one of our genetic epilepsy programs. The recruitment initiative was to send a letter direct to diagnosed patients and their ordering clinician, informing them about our trial, for which they may be eligible. We were highly impressed working with GeneDx on this initiative and the level of professionalism from start to finish. The entire process was a true collaboration and we will absolutely partner with GeneDx again on clinical trial recruitment for all of our upcoming genetic epilepsy trials.”

—Director of Natural History Studies

Case study: Advancing pipeline drug development with genomic data

The partner

Mahzi Therapeutics is developing multiple novel therapies for rare pediatric-onset neurodevelopmental conditions. One of the orphan drugs in their pipeline is being developed to treat patients with CHD2 deficiency.

The problem

The phenotypes of patients with CHD2 deficiency are not well documented, and there is limited data to inform clinical trial development for these patients.

Our solution

GeneDx developed patient clustering analyses and identified clinical subtypes with high and low age at testing, as well as a clinical subtype with very low rates of seizures.

Our impact

Empowered with these insights, Mahzi could expand the scope of patients eligible for their trial, optimize their trial arms, and increase the likelihood of their drug succeeding in phase I/II trials.

Partner with us

The GeneDx biopharma team works with industry partners to understand their unique challenges, align with their goals, and provide tailored solutions. It all starts with a conversation.

Get in touch to partner with us today: fill out this form or contact us at biopharma@genedx.com