Sanofi partners to enhance access to genetic testing in rare diseases

Pharma News: Sanofi Genzyme has partnered with leading medical genetics company to sponsor Australia’s first no-charge genetic testing programs for patients suspected by their clinician of having a genetic cause for their cardiac or neuromuscular signs and symptoms.

With Sanofi Genzyme’s support, Invitae’s Detect Cardiomyopathy and Arrhythmia program and Invitae’s Detect Muscular Dystrophy program will be made available to specialists who are working to understand if their patients’ clinical symptoms are driven by an underlying genetic cause. The programs provide access to clinical support for consultation regarding result interpretation and family management.

Sanofi Genzyme Australia and New Zealand Head of Medical, Dr Paul King, said many Australians who are living with a rare disease still face unreasonably long journeys to diagnosis.

“Unfortunately, diagnostic delay is still very common. Recent statistics published from Rare Voices Australia tell us that, for up to 30% of Australians who are living with a rare disease, their diagnostic journey took more than five years,” he said.

“This lack of diagnosis can mean years of uncertainty, anxiety, depression as well as poor control of a progressive disease.

“Sanofi Genzyme already offers no-charge access to diagnostic testing for patients suspected of having Lysosomal Storage Disorders, such as Fabry and Pompe disease, and supports screening initiatives in high risk patients to assist clinicians in their diagnosis. We also know that genetic panel testing for high risk patients is one of the best tools clinicians have for earlier diagnosis.

“We hope that this initiative to offer no-charge access to more of Invitae’s Detect programs will speed up diagnosis and end the uncertainty leading to better health outcomes for more Australian patients,” he added.

Sanofi told Health Industry Hub that the Detect Cardiomyopathy and Arrhythmia program and Detect Muscular Dystrophy program will be introduced to specialists by both Sanofi and Invitae through a series of hosted educational webinars, email communication, as well as education and support provided through Sanofi Genzyme Online.

“Genetic testing can provide essential health information, especially for these difficult-to-diagnose conditions for which Invitae’s Detect programs are designed. With access to a molecular diagnosis, patients can get faster access to available therapies or clinical trials,” said Dr Robert Nussbaum, CEO, Invitae.

Invitae told Health Industry Hub that the company has previously published the findings from its genetic panel programs. A publication focussing on the two Sanofi sponsored Detect programs will be considered in the future.

“We’re proud to partner with Sanofi Genzyme to make genetic testing more accessible to everyone and to make it easier for people living in Australia to receive testing and obtain the care they need,” Dr Nussbaum said.

To Health Industry Hub‘s knowledge there are currently no MSAC applications in place to seek reimbursement for either of the programs.