From phenotype to diagnosis: Blueprint Genetics launches an open digital platform to connect clinicians based on matching rare variants

April 12, 2018

The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants.

Diagnosing patients with rare diseases is a complex task. Patients with similar phenotypes and the same variant are extremely rare in a clinician’s practice which makes surveillance and treatment difficult.

“Specifically, when a patient is identified with a previously unreported VUS in a gene causing a rare disorder, finding a second patient with the same variant and comparing their clinical features might allow for re-classification of the variant and aid in diagnosis and management”, says Blueprint Genetics’ Chief Experience Officer Sofia Frisk.

Blueprint Genetics’ aim is to reduce the time it takes to diagnose rare diseases by providing high quality and affordable genetic testing to clinicians.

“To further this goal, we have heavily invested in a digital platform that enhances the availability of variant information to any interested physician. After identifying a variant or making a diagnosis, the ability to connect with fellow clinicians is invaluable to doctors who may not have seen a patient with the disease in question before”, Frisk continues.

Availability of information is key to the company’s commitment to transparency in genetic testing and results.

“This service is open to the entire medical community and it does not matter if the original test was performed in a different laboratory. Variant information can be entered into our digital platform making life-changing genetic knowledge available to the entire health care professional community”, Frisk says.

Nucleus Connecting Clinicians Open

  • is a digital platform targeted to the entire health care professional community.
  • suggests connections between clinicians based on the primary or secondary findings that have been reported for their patients by matching individual variants.
  • both clinicians must consent to being connected before their contact information is shared.
  • is open to all registered Nucleus users.
  • by sharing a variant of their patient, the user can connect to a peer who has a similar patient.

Read more:

Further information
Chief Experience Officer Sofia Frisk, tel. +35840 084 9393 sofia.frisk(at)
Communication Manager Juulia Simonen, tel. +35850 305 9018, juulia.simonen(at)

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