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Ariel Precision Medicine Launches Clinical Decision Support for NGS Pancreatitis Assay


This article has been updated from a previous version to clarify the workflow for Ariel's PancreasDx test.

NEW YORK (GenomeWeb) – With the help of a recently launched cloud-based clinical decision support tool, startup Ariel Precision Medicine aims to increase uptake of its next-generation sequencing assay for the early detection of pancreatic disease in patients exhibiting symptoms of pancreatitis.

Ariel also plans to develop assays and software to quickly identify and monitor a number of diseases that may cause pancreatitis, including diabetes and pancreatic cancer.

Clinicians normally use a variety of blood or stool-based tests to monitor the levels of different enzymes that indicate pancreatitis. However, patients with early stages of pancreatic diseases exhibit similar symptoms, making it difficult to distinguish between specific variations. Doctors can therefore treat patients symptomatically and inaccurately diagnose patients until later stages of the disease, where standard therapeutic treatment is not as effective.

Founded in 2015 by CEO Jessica Gibson and Chairman David Whitcomb, Pittsburgh-based Ariel has developed a next-generation sequencing tool called PancreasDx to analyze 13 genes linked to acute pancreatitis, recurrent acute pancreatitis, chronic pancreatitis, and rare Mendelian disorders associated with pancreatitis.

"There are over eight different causes of pancreatitis, and if you are unable to differentiate one cause from another or identify the underlying mechanism of biological dysfunction in a patient, you are limited in the ability to enable diagnosis and unable to inform targeted management," Gibson said.

According to Gibson, the firm's new clinical decision support tool, ArielDx, integrates the genetic data from PancreasDx with a patient's medical history and symptoms to deliver an overall view of the patient's condition. ArielDx interprets the data in the context of the patient's symptoms, clinical history, family history, and environmental factors to produce a result.

Ariel Chief Medical Officer Mark Haupt explained that the PancreasDx assay uses patient buccal samples to look for genetic variants linked to pancreatitis. A clinician who suspects a patient is exhibiting pancreatitis symptoms first prescribes the licensed genetic sample kit on Ariel's online portal. The website then invites the patient to a secure online patient portal, where they consent to the test, include their insurance information, and provide a "snapshot of their health profile."

After receiving a sample collection kit and providing a buccal swab, patients then send back their kits to a CLIA lab contracted by Ariel that sequences the assay. The CLIA lab then sends the results to Ariel, where it is "harmonized" via the ArielDx software platform with patient medical history. A report detailing the underlying factors and personalized treatment options relevant to a specific patient's pancreatitis is provided to the clinician to customize a management plan. 

While Ariel prioritizes buccal samples, Gibson noted that the firm's platform can also look at blood, saliva, and other liquid samples.

Gibson said that the overall turnaround time from sample to result is about four weeks. The external lab requires about a week to extract the genetic material from the buccal sample, amplify the DNA, and then perform NGS on the genetic material. 

"We don't look at [the results] in a binary way ... but instead look at the combination of multiple disease-casing and disease-modifying components in an individual" exhibiting symptoms, Gibson said.

According to Gibson, in an internal validation study of 34 patients that had pancreatitis and had previously undergone genetic testing, PancreasDx not only found previously identified variants but also found new genetic variants missed by other assays.

Gibson noted that "based on the validation study results, this assay achieves greater than 99 percent analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions with fewer than 15 base pairs in length, and exon-level deletions and duplications."

Since Ariel started in 2015, the firm has raised $2.5 million, including $100,000 in 2017 to develop its original bioinformatics platform, called the Smart-MD platform. Ariel raised about $2.5 million in a seed funding round it closed earlier this year to further develop ArielDx and PancreasDx. Gibson declined to discuss further financing plans but said that her team will look to raise funding "in the near term" as it scales production.

According to Gibson, Ariel has partnered with various institutions and clinicians across the US to develop and use PancreasDx. While Ariel inked an agreement with Helomics last December regarding the clinical laboratory space for PancreasDx, Gibson noted that "nothing has come out of it yet."

In addition, Ariel has partnered with the National Pancreas Foundation, a patient advocacy group focused on pancreatitis and pancreatic cancer.

Several molecular assays exist for early detection of pancreatic cancer, including Invitae, Ambry Genetics, and GeneDx.

According to its website, Invitae offers a hereditary NGS pancreatic cancer panel that covers 20 genes related to pancreatic cancer, which costs about $1,500 and has a turnaround time of about three weeks. Meanwhile, GeneDx's NGS hereditary tool identifies four genes linked to hereditary pancreatitis and pancreatic cancer using 2 to 5 mL of blood sample or buccal swabs with a turnaround time of three weeks. Ambry's website states that its clinical NGS panel examines six genes and requires two to four weeks to produce results.

However, Ariel noted that its test is not exactly comparable to these assays because it does not only focus on pancreatic cancer. 

According to Gibson, Ariel's assay comprises targeted, deep sequencing of specific regions related to pancreatic disease "that include Mendelian and hereditary genes, but also considers genes activated by a patient's environment and interprets the total impact of multiple variants, covering the majority of patients with pancreatitis."

While declining to discuss the price of PancreasDx, Gibson said that the tool is "priced comparably with other genetic tests for pancreatitis assays that offer a four-gene panel, while we have a 13-gene panel that includes clinical integration."

In addition, Gibson argued that ArielDx's ability to help clinicians to select biomarkers that may not be as sensitive or specific in the context of the genetic etiology, would "confirm the disease activity in a way that would not be accessible without the platform."

PancreasDx is a laboratory-developed test and is currently reimbursed by major private insurance companies, which Gibson believes "is a testament to the level of evidence to how the test is changing patient care and how easy it is."

Haupt added that "as with any reimbursed test, it's highly variable, and we can't put a specific price on it."

Gibson noted that Ariel's genetic tools will target patients of all ages who clinicians suspect of having one or more attacks of idiopathic pancreatitis.

"We are focused on creating the tools to flag and manage this condition as soon as possible [to push for] treatments and interventions in order to mitigate more severe and complex symptoms, like diabetes, maldigestion, or irreversible pancreatic damage," Gibson explained.

Haupt said that Ariel has also developed a diagnostic assay that examines genes linked to lipid metabolism called ArielDx Lipids, which clinicians can select while ordering the ArielDx report. In addition, doctors can opt-in for a third test called ArielDx PGx for pharmacogenetics while filing a report. As the firm moves to other disease states, it will also feed the planned assays into the ArielDx platform.

"Abnormal levels of serum lipids can lead to pancreatitis, and [so] the planned assay is a very good idea to identify a cause of pancreatitis that can be treated with effective therapeutics," Haupt said. "If you know lipids are driving [the] pancreatic disease, or if patients are not processing certain therapeutics, that information can help inform the best clinical conditions at that time."

Gibson noted that Ariel also aims to partner with hospitals and other areas in the clinical setting to use PancreasDx in the diagnostic space.

"Our goal is to create applicable tools and awareness that [gastroenterologists]... can have access to these patients to effectively manage the disease process," Gibson explained. "The quicker we can figure out what's causing the inflammatory response, the more effective the preventative measure will be for severity or progression."

Ariel will also launch software on ArielDx designed to facilitate genetic interpretation and clinical management of patients with diseases such as diabetes and pancreatic cancer.

"We're trying to bring what's available in terms of technology to help patients and [offer] a similar approach to other diseases like pancreatitis that are influenced by genetic etiology, familial, and environmental factors that require a comprehensive approach and history," Haupt said.