Using the PharmCAT tool for Pharmacogenetic clinical decision support.

Here, we will provide our insights into the usage of PharmCAT as part of a pharmacogenetic clinical decision support pipeline, which addresses the challenges in mapping clinical dosing guidelines to variants to be extracted from genetic datasets. After a general outline of pharmacogenetics, we describe some features of PharmCAT and how we integrated it into a pharmacogenetic clinical decision support system within a clinical information system. We conclude with promising developments regarding future PharmCAT releases.

Decentralized Digital Health Services Caught Between the Pressure for Innovation and the Burden of Regulations.

Multiple challenges await third-party digital health services when trying to enter the health market. Prominent examples of such services are clinical decision support systems provided as external software. Uncertainty about their challenges, technical as well as legal, pose serious hurdles for many innovations to be adopted early on. There are many options and trade-offs to provide digital healthcare solutions as a third-party service. This paper discusses them by referring to a pharmacogenetic decision support service. By providing best-practices, scenario descriptions and templates designed for third-party services with respect to legal and technical issues, obstacles and uncertainties can be reduced, which will have an impact on better diagnoses and treatments in the healthcare system.

Legal Challenges for IT Service Providers in Pharmacogenomics.

IT providers offering services based on genetic data face serious challenges in managing health data in compliance with the General Data Protection Regulation (GDPR). Based on a literature research and our experiences, an overview of GDPR compliant processing of sensitive data is given. The GDPR requirements for processing sensitive data were specified for a use case concerning a service provider of a pharmacogenomic decision support system. Start-ups who want to enter into the health market also have to comply with the Medical Device Regulation (MDR). The associated efforts for legal compliance constitute an impediment for many start-ups. We created a comprehensive overview, which aligned the requirements of the GDPR with the life-cycle of a medical device. This overview shall help start-ups to grasp and overcome the regulatory hurdles faster.

Integrating Pharmacogenetic Decision Support into a Clinical Information System.

Pharmacogenetic testing can prevent adverse drug events but has rarely found its way into clinical routine. One reason is the lack of tools for smooth and automatable integration of pharmacogenetic knowledge into existing processes. Especially, electronic medical records (EMR) represent a suitable environment for such tools. We developed a modular service-oriented prototype of a pharmacogenetic decision support system within an EMR system of the Bern University Hospital. Here, we present the component architecture of our system and discuss issues required for generalizing our results.