This article has been updated to note that the new Sanford PGx panel will have 42 genes not 60 as reported previously.
NEW YORK (GenomeWeb) – Sanford Health has tapped Translational Software's pharmacogenomics knowledgebase and PGx platform to support its Sanford Imagenetics program as the Dakotas-based non-profit health system looks to expand its genomics medicine initiative to include testing for more genes and more patients.
Sanford Health launched the Imagenetics initiative in 2014 with a $125 million gift from philanthropist Denny Sanford to integrate genetic testing into primary care in order to personalize care and offer more effective health management for adult patients. Earlier this year, Sanford Health tapped Cornelius Boerkoel, former director of the National Institutes of Health's Undiagnosed Diseases Program, to serve as the executive director of Sanford Imagenetics' Research Center on Genomic & Molecular Medicine. Boerkoel, who also co-founded the Rare Disease Foundation, joined Sanford Health in February and will be responsible for overseeing and expanding the Imagenetics program.
Sanford Health is currently constructing 100,000-square-foot building dedicated to the Imagenetics program that is scheduled to be completed in the summer of next year. The planned facility will offer services including general internal medicine, medical genetics, genetic counseling, cytogenetics and molecular genetics laboratories, radiology, and patient access management. In the years since the initiative was launched, Sanford Health has been working on implementing education programs for physicians and clinicians as well as a genetic counseling program established in partnership with Augustana University and the University of California, San Diego, Boerkoel told GenomeWeb. His team has also been recruiting additional staff such as genetic counselors to work in the adult clinics and assist physicians.
The health system has also been implementing genetic testing capabilities including a pharmacogenetics panel that assesses patients' ability to metabolize more than 400 different medications to help treating physicians select more effective treatment and dosing recommendations. Initially, the Sanford panel focused on drugs, genotypes, and genes defined by the CPIC guidelines but it is now expanding that list to include drug and genes recommended by the US Food and Drug Administration and several established European organizations, Boerkoel told GenomeWeb. The new panel, which is being built by Thermo Fisher Scientific, will now cover 42 different genes by the time it is ready for use later this year, he said.
As Sanford looks to scale up the Imagenetics program in terms of both testing and the number of patients served, it is using Translational's software to generate pharmacogenetics reports in a more automated and less labor intensive fashion. Working with a commercial vendor was also more cost effective than to try to develop and maintain a system in house, Boerkoel noted.
Translational's knowledge-as-a-service platform and application programming interface provide access to the company's proprietary PGx portal and the knowledgebase that it uses to generate patient reports. These reports include information on known drug-gene interactions as well as on drug efficacy and toxicity. They also list known medications for which dosing should be personalized based on patient's genetic test results as well as alternative medications and dosing guidance. Translational's platform offers clinical reporting capabilities for nearly 40 genes and can be tailored to support various clinical specialties including cardiovascular, psychiatric, and cancer, according to company.
Translational has also implemented a mechanism for sending best practice alerts to Sanford Health physicians about potential drug-gene interactions pertinent to patients that they need to consider as they make treatment recommendations, Translational CEO Don Rule told GenomeWeb. Furthermore, Sanford will be able to scale up its pharmacogenetics tests as the number of patients enrolled in the Imagenetics program and the number of drugs and genes that patients are screened against grows. "The way this is built … it's relatively straightforward for us to include new guidelines, new genes, new insights, and keep that all up to date," he said. Translational's platform is also tightly integrated with Sanford's electronic medical record system making it possible to add patients' pharmacogenetics reports to their medical records.
In addition to expanding its PGx panel, Sanford is trying to offer testing to a much wider pool of patients. Until now, access to testing has been largely payor-dependent with the exact costs depending on the patients' insurance coverage. But Sanford plans to make it more affordable for patients to pay for testing themselves, Boerkoel said, which should make PGx testing available to tens of thousands of additional patients in addition to those who have coverage included in their insurance plans. Out-of-pocket costs for testing can range from $200 to $3,000 depending on the test, according to Sanford's estimates.
The Imagenetics initiative also includes a research component that aims to identify genomic markers that could be used to improve and individualize care for patients with chronic disorders and conditions. Efforts here include developing bioinformatics tools for analyzing and interpreting whole-genome sequence data, according to Sanford. The planned center will also include teaching space for students enrolled in the newly launched genetic counseling graduate program as well as house medical and medical genetics residents from the University of South Dakota Sanford School of Medicine.
Sanford Health is the second customer that Translational has announced this year. In April, the company announced that Inova Translational Medicine Institute is using its software for pharmacogenetics analysis and reporting for MediMap, a new test for newborns offered at Inova Women's Hospital that evaluates changes in seven genes that influence a patient's response to more than 21 prescription drugs.
Translational plans to release additional updates to its platform in the near future, according to Rule. For example, it is making improvements to its API to allow researchers to access and analyze test results and drug data more efficiently and in real-time. These updates will allow a customer to, for example, re-analyze patient data in the context of new information about drug-gene interactions or to evaluate patients in terms of the risks and benefits of pharmacogenetic testing, Rule said.