PORTEFEUILLE

The aim of our project is a release candidate of a pharmacogenetic clinical decision support service (PGCDSS). Pharmacogenetics is the study of genetic effects on the metabolic pathways of drugs. 95% of individuals carry one or more genetic variants that are important for drug dosing recommendations. There are currently more than 200 drugs with known pharmacogenetic interactions. Ignoring genetic variations while prescribing a drug can cause severe adverse drug reactions (ADR), e.g. death or completely insufficient drug response such as lacking pain relief for an analgesic. Our service has the potential to considerably reduce inadequate drug prescriptions for patients with certain genetic constellations.
The treatment of severe ADRs is expensive, and it has been demonstrated that the costs for additional treatment of patients suffering ADRs can be higher compared to whole genome sequencing of all patients receiving the drug. Despite these benefits of pharmacogenetics, the actual implementation in clinical routine is progressing slowly. However, this is not due to a lack of genetic knowledge, but to problems concerning the transfer of this knowledge to the point-of-care. A PGCDSS reduces the hurdles and costs of for different health care providers to use pharmacogenetic knowledge.
The intended PGCDSS analyses the individual pharmacogenetic data and warns the physician in case of critical drug prescriptions. Thus, the service has the potential to reduce severe pharmacogenetic ADRs. The system is able to provide alerts and patient-specific drug recommendations. The PGCDSS can be part of a clinical information system, but it can also be provided by an external service. In both cases, the PGCDSS shall be seamlessly integrated into the physicians’ workflow.

Pharmacogenetics is relevant for almost every physician prescribing drugs; the bandwidth of pharmacogenetically relevant drugs ranges from highly specialised anti-cancer medications to very common drugs like codeine. We will provide a PGCDSS that can easily be integrated with the different IT systems of the healthcare providers. Furthermore, our suggested solution can be seamlessly integrated into the physicians’ prescription workflow and thus has low adaptation costs. We expect that decision support systems will become mandatory in the drug prescription process in future, opening new markets for services such as the one described here.

In our thesis, we developed a first prototype of a pharmacogenetic clinical decision support system and implemented it in the test system of the University Hospital in Berne, Switzerland.
During the first stage of this project, we rebuilt the prototype from scratch and removed dependencies on software libraries that are still not officially released. At the same time, we improved the design of the knowledge base and our algorithm to determine the phenotype of the patient. Further, we participated in the “Berner Business Creation Wettbewerb” where we created a more detailed business plan and improved our insights into the market segment.
In the second stage of the project, we expanded our network and found partners, which are willing to participate in a research study related to the usage of our solution in practice. On the development side, we improved our underlying infrastructure and moved the services into a clustered environment.
In the third stage we continued our ambitions to enable an implementation study for pharmacogenetic testing with multiple partners. The study will be the core for the further development of this project because it will enable us finally to proof us right on our assumptions. We analysed our options concerning data privacy and medical device regulations.
In the next stage, we will create the study proposal for the funding of the implementation study together with our partners. Additionally, we will start to develop the required documents for the medical device certification and start preparing our systems for the study.

Wie die IT in der Pharmakogenetik hilft, die Arzneimittelsicherheit zu erhöhen, Society Byte, August 2019

The Bachelor Thesis that led to the project has been awarded a price at the conhIT 2018 medical informatics trade show
Interview Enterpreneurship Bern, 24. April 2019
The «First Ventures» program finances four projects Startupticker.ch, startupticker.ch, 26 July 2018