Writer: Minna Pauliina Kataja -15.11.2024
Adverse drug reactions and determining correct dosages are still often addressed through trial and error. Many patients could benefit from pharmacogenetic testing, which helps identify the appropriate drug dose and assess potential side effects.
Abomics CEO, Sami Miettinen, believes pharmacogenetics will become an integral part of preventive healthcare in the future. “Preventive testing can reduce drug-related harms and enable quicker determination of correct dosages. Research indicates that approximately 30% of drug side effects can be explained solely by a patient’s genetic profile. This is a remarkable figure, and predictive testing can significantly improve treatment outcomes,” says Miettinen.
When a patient and doctor want to understand how the patient’s body reacts to a drug, the doctor can order a pharmacogenetic test. The test reveals how liver enzymes metabolize the drug, which can vary significantly between individuals.
In pharmacogenetic testing, a patient’s blood sample undergoes gene sequencing in a laboratory to determine how specific genes affect the rate of metabolism.
“Our analyses at Abomics can, for example, recommend halving a medication dose for a patient based on a specific gene,” explains Miettinen.
Test Results and Guidance Integrated Directly into Electronic Patient Records
Abomics has developed a solution that delivers pharmacogenetic test results and personalized medication recommendations directly into physicians’ workflows. This ensures that previous test results are not overlooked during future consultations, a common issue in healthcare. “Pharmacogenetic studies are based on genetic information that remains unchanged throughout a patient’s life. Therefore, a single pharmacogenetic test provides data that can be utilized in all future medical decisions. By permanently integrating this information into electronic patient record systems, we ensure treatment is as effective and safe as possible while reducing medication costs,” says Miettinen.
Abomics has collaborated with Tietoevry Care to introduce a new feature in the Lifecare patient record system’s Medication module. This feature automatically informs doctors if a pharmacogenetic test has been performed. The solution will first be implemented in the Ostrobothnia Wellbeing Services area in Finland next year. Miettinen hopes the operating model will expand across Finland.
Limited Testing in Many Countries – Finland as a Forerunner
According to Miettinen, it often takes 15–17 years for medical innovations to become standard practice.
Pharmacogenetics has been developing for about a decade.
“There is growing evidence of the benefits of predictive pharmacogenetic research. Our vision is for these tests to be used preventively in healthcare. By selectively testing individuals taking multiple medications, we can reduce drug-related harms and determine the correct dosages more quickly,” Miettinen says.
Abomics’ expert-maintained database currently includes over 100 drugs where pharmacogenetics has a clinically significant impact.
In Finland, pharmacogenetic testing is relatively common and performed by several laboratories, healthcare companies, and the HUS Diagnostic Center, which also analyzes samples. In contrast, Sweden conducts very few tests, and Norway slightly more. Some countries, like the Netherlands, have already integrated pharmacogenetics into healthcare, but many others are still in the early stages.
“So far, Abomics has focused on collaborating with laboratories and promoting the use of pharmacogenetic tests in healthcare through education. We believe integrating these tests into Electronical Medical Record systems is key to broader adoption across various markets.”
Collaboration with biobanks and pharmaceutical development is, according to Miettinen, a future opportunity, particularly in Europe, the Middle East, Australia, and Asia.
“We are not excluding any major markets. We are also exploring opportunities to expand into the United States.”
Adverse Drug Reactions Remain a Significant Problem
Nearly one in five (19%) patients experience drug-related harms during hospital treatment, according to Outi Laatikainen’s doctoral research. Additionally, adverse drug reactions are extremely common among the elderly, accounting for approximately 23% of emergency department visits for older patients.
Recent studies have examined the impact of pharmacogenetic testing on treatment outcomes. For example, a study published in The Lancet found that gene-guided medication significantly reduced the risk of adverse effects compared to standard treatment.
The study showed a 30% reduction in clinically significant adverse effects when pharmacogenetic test results were available to the treating physician. Approximately 7,000 patients participated in the study, which included treatments for depression, pain management, and cardiovascular diseases.
In Finland, pharmacogenetic testing is part of the Current Care Guidelines for depression. Doctors are advised to conduct the test if a prescribed drug causes adverse effects or is ineffective. Research indicates that up to 60% of antidepressants used in Finland have clinically significant efficacy depending on the patient’s genetics. It has also been shown that inherited variations in the CYP2D6 gene significantly affect the metabolism of certain antipsychotics, which can be accounted for in treatment planning.
The effects of enzymes on the anticoagulant clopidogrel and the multiple sclerosis drug siponimod have also been studied. CYP2D6, CYP2C19, and CYP2C9 are the most common clinically significant genes affecting medication.
Collaboration with Biobanks Enables Predictive Healthcare
Sami Miettinen sees collaboration with biobanks as a major opportunity for Abomics. It would enable predictive healthcare.
“We believe biobank data could be processed through our service to provide information on the pharmacogenetic profile of patient samples. This would allow predictive use of the data, enabling tailored treatment based on individual drug metabolism characteristics before medication begins.”
Collaboration with biobanks would also open new opportunities for research and business, enriching biobank data.
“When pharmaceutical companies develop drugs, biobanks could already have data on drug metabolism. This could accelerate drug development and help identify optimal profiles for drug development.”
Abomics is already working with pharmaceutical companies, allowing anonymized data to be used in drug development.
A New CEO with Experience in Large Corporations
Sami Miettinen began as the new CEO of Abomics in May. He previously worked for GE Healthcare.
“At GE, there were clear methods and processes. Familiarity with large company practices supports Abomics’ operations. The company has invested in quality systems, risk management, and processes, which are crucial for scaling the business. I can reflect on things from the perspective of large companies,” says Miettinen.
Miettinen has, for instance, been involved in merging Finnish Instrumentarium and American GE Healthcare and has experience with different corporate cultures.
“For a small company, product strategy and offering clarity are essential. During decades of work in large companies, I realized the importance of a clear long-term strategy. At Abomics, I’ve aimed to bring clarity to how we can make small adjustments to meet different customer needs. In my initial months, I’ve noticed that Abomics hasn’t yet fully realized what we can achieve and the markets we can serve. While our service is highly focused, many segments can benefit from pharmacogenetics.”
Sources and more information
- A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label,multicentre, controlled, cluster-randomised crossover implementation study, TheLancet Volume 401, Issue 10374, 2023
- The significance of CYP2D6 genotype-based metabolic status in the dosing of antipsychotic
medications, Kari Raaska, https://www.kaypahoito.fi/nix03359 - Current Care Guidelines for Depression: https://www.kaypahoito.fi/hoi50023#s16
- Medication-related adverse events in health care 216-229_Dosis_2-2020_Laatikainen.pdf
Current Care Guidelines are independent, evidence-based clinical practice guidelines. These national
guidelines cover important issues related to Finnish health, medical treatment as well as prevention of diseases. The guidelines are published in Finnish, and a few have been translated into English.
Pictures: Shutterstock ja Abomics
