In a recent webinar, Genomenon’s chief scientific officer Dr. Mark Kiel was joined by Dr. Gus Khursigara, VP of Medical Affairs and Clinical Strategy at Inozyme Pharma. This blog explores three key benefits of locus-specific patient databases (or Patient Landscapes), and how they are helping Inozyme better understand and target rare diseases.

1. Patient Landscapes Expedite Early Discovery

Understanding how rare diseases progress longitudinally can be very challenging due to lack of information in the early launch phase, where the goal is to determine prevalence and treatment responses to both standard therapy and a potential drug of interest. Additionally, hunting for literature to support further clinical decisions is labor-intensive, and can take an immense amount of time—an asset too precious to waste in rare disease research.
Researchers in this phase ask questions like:

• • Do certain variants contain prognostic factors that provide insight on disease progression?
  • How can we define genetic confirmation for diseases with nonspecific symptoms?
  • Get a direct link to the article in Mastermind for each search result in Google Scholar
  • How can we maximize patients that would benefit from the treatment we are trying to develop?

The longer researchers stay in this phase, the longer patients and their families have to wait—therefore, the most important impact of Patient Landscapes is an expedited deepening of knowledge and clinical awareness amongst practitioners.

2. Patient Landscapes Make Genomic Information Actionable

Almost 80% of all rare diseases have a genetic component. Unfortunately, most of them remain undiagnosed—caught in the diagnostic odyssey’s discouraging limbo. In fact, rare disease patients can remain in this space for an average of 5 years and pass through multiple specialists before finally obtaining a correct diagnosis¹. Next generation sequencing (NGS) offers a great deal of promise for shortening this timeline; however, many of the genetic variants that result from these efforts are poorly characterized.

Genomenon addresses this issue through a unique computational approach that not only makes genomic evidence actionable—but also helps Pharma optimize drug design, development, and delivery.

3. Patient Landscapes Improve Patient Outcomes

Ideally, all patients will respond in equal magnitude to a prospective therapy—unfortunately, this is not usually the case. Many studies present two outcomes: either some patients don’t respond, or the intended molecular target is not hit.

For these cases, Patient Landscapes can be used to pinpoint where the problem lies—within the drug design strategy, or within biology.

By introducing more information (and more precision) to the clinical trials process, Patient Landscapes enhance insights contained in retrospective and prospective health data, and help rare disease researchers preserve their most valuable resource—time.

To see the full conversation for yourself, watch the webinar recording. For a deeper understanding of how Patient Landscapes can be an efficient and cost-effective retrospective natural history research solution for your organization, and to discuss your specific needs, contact us. You can also visit genomenon.com/pharma.

REFERENCE1. Hartin, et al. (2020). Expediting rare disease diagnosis: A call to bridge the gap between clinical and functional genomics. Molecular Medicine, 26(1). https://doi.org/10.1186/s10020-020-00244-5