Dive Brief:

• Medical genetic testing company Invitae said Tuesday it's working with BioMarin Pharmaceutical to expand screening for skeletal dysplasia, which BioMarin is developing drugs to treat. 

• In a statement, Invitae said it will perform genetic testing for 109 genes linked to rare bone and joint disorders classed under the umbrella term skeletal dysplasia. The program builds on an existing relationship between Invitae and BioMarin, which in 2017 tapped the genetic testing company for help diagnosing the causes of childhood seizures.

• Cowen analysts framed the news as evidence Invitae is “incrementally building its biopharma revenue base,” per a note to investors Tuesday.

Dive Insight:

The service will be free of charge to patients who show signs or symptoms indicating they may have the condition, which include short stature, disproportionate growth, dysmorphic facial features​, or skeletal abnormalities suggestive of skeletal dysplasia​.

Skeletal dysplasia is estimated to affect about one out of every 5,000 births. However, the actual incidence may be far higher as the disorders only become evident during childhood when some of those signs and symptoms such arise. 

Physicians diagnose the disorders based on their observations and imaging. But those methods can fall short of delivering the precise diagnosis physicians need to start patients on the best treatment for their particular form of skeletal dysplasia.

BioMarin, which is developing a drug to treat a form of skeletal dysplasia, is looking to bolster diagnosis of the disorder. To do so, the rare disease specialist is bankrolling Discover Dysplasias, program that will enable U.S. healthcare providers to order genetic tests of patients who may have the disorder.   

Invitae has come on board to perform the tests. The service will enable physicians to get genetic test results on their patients in around two weeks. BioMarin will foot the bill for the work. The new skeletal dysplasia program follows a similar blueprint to the earlier, recently expanded seizure initiative.​​

Analysts at Cowen see the fact that BioMarin has twice selected Invitae for a genetic testing project as evidence that the latter company is a “go-to partner” for the biopharma industry.

"Today's announcement is representative of Invitae's incrementally growing biopharma base and is yet another validation of being a reliable genetic testing company," the analysts wrote in a note to investors

The biopharma business is a relatively small part of Invitae’s operation today. Invitae recognizes most of its biopharma business as institutional revenue, which accounts for 18% of its total sales. Cowen analysts think biopharma makes up around 50% of institutional revenue, suggesting the unit accounts for less than 10% of total sales. Invitae added nine biopharma partnerships in the third quarter.