By Benjamin Ross
November 6, 2018 | A new testing program created by Sanofi Genzyme and PerkinElmer looks to shorten the diagnostic odyssey for patients suffering from rare genetic diseases by providing confirmatory DNA testing and phlebotomy services to patients suffering from specific types of lysosomal storage disorders (LSDs).
The program, called The Lantern Project, went through a soft launch in early October, with a nation-wide release two weeks later. Access to the program is available through PerkinElmer, with the diagnostic testing being sponsored by Sanofi Genzyme.
Sarah Gonzalez, head of medical diagnostics at Sanofi Genzyme, told Diagnostics World that the program addresses two specific needs: help patients get proper access to diagnostic testing, and clarify misconceptions that surround the testing itself, including the cost and scope of the tests.
“Genetic testing has come so far, but we’re up against the usual misconceptions about the expense of the test, concerns about it not being covered, as well as confusion from providers who aren’t familiar with rare disease on how to order a test and what test to order,” said Gonzalez.
Patients with rare genetic diseases can face a particularly difficult path to a proper diagnosis, Gonzalez said. Because there is a lower awareness of these diseases and they have symptoms which may initially be confused with more common diseases, diagnosis can take several years with patients often consulting with multiple physicians. Access to comprehensive diagnostic testing can also be a barrier to diagnosis.
The Lantern Project assists patients whom physicians suspect may be suffering from rare genetic lysosomal storage diseases like Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis type I (MPS I), or acid sphingomyelinase deficiency (ASMD), by providing the necessary avenues for diagnostic testing.
Physicians will be able to use the Lantern Project to arrange for screening of certain suspected LSDs as well as confirmatory DNA testing and phlebotomy services for their patients.
“A physician who wishes to test a patient through the Lantern Project can do so by visiting the dedicated website for the program: LanternProjectDx.com,” Gonzalez explained in an email interview. “From there the physician can get additional information about the suspected disease state as well as a link to order test kits. Once the physician orders a test kit, they will receive it in approximately two business days. Included in the test kit are specific instructions on how to collect the sample and the Lantern Project test requisition form. Once the patient is tested, the physician sends the test kit in to PerkinElmer for sample processing. Results are sent back to the ordering provider within a couple of weeks, all at no cost.”
On top of the testing capabilities, Gonzalez said the program’s 105-gene panel for limb-girdle muscular dystrophies (LGMD) and other myopathies highlights the potential for the program, saying that this will assist physicians in casting a wider net for diagnosis.
The gene panel uses next generation sequencing technology, allowing for rapid sequencing of multiple genes simultaneously. Patients can be tested for multiple LGMD disorders at once, in addition to other diseases that may cause similar symptoms including Pompe disease and spinal muscular atrophy.
“Because of the phenotypic overlay these disorders present, it really made sense for us to offer physicians something that was useful for them,” she said. “I think what we’ll see from this is that we’ll also be able to help patients with other disease states get an accurate and early diagnosis.”
Sanofi Genzyme partnered with PerkinElmer because of the capabilities of PerkinElmer’s diagnostics labs.
“There are a lot of labs out there,” Gonzalez said. “What the patients need and what the physicians need to help in completing the diagnostic picture is access to both the biochemical and molecular testing for the disease states.” These two options were key in Sanofi Genzyme’s partnership with PerkinElmer, Gonzalez stated.
There are currently no plans to expand the program’s focus to other diseases, Gonzalez said. “This time next year I hope we see that we’ve helped many more patients get access to this testing program. That’s the goal, to make this program available to providers so we can see an increase in patients getting a diagnosis.”