Mia Wadelius researches pharmaceutical genes

It was, in fact, a stroke of luck that Mia Wadelius, Professor at the Department of Medical Sciences at Uppsala University, embarked on her research journey. It has been 30 years since her first encounter with pharmacogenetics, often simplified as “pharmaceutical genes”, and today, she stands as one of the leading researchers in her field. Let’s begin by explaining what pharmacogenetics, or pharmaceutical genes, entail and what Mia Wadelius is researching.

Genes can determine medication effects

Pharmacogenetics explores how our genes influence our response to various medications, hence the simplified term “pharmaceutical genes”. This includes understanding how relatively common genetic variations can lead to reduced medication efficacy or determine the side effects of a drug. Mia Wadelius is specifically focused on researching these adverse effects.

“I am interested in identifying genetic variants that increase the risk of medication and vaccine side effects”, she explains.

Mia Wadelius’ interest in why certain individuals experienced severe drug side effects began during her tenure as a physician at the Swedish Medical Products Agency. There, she assessed reports of adverse drug reactions sent in by healthcare providers, which ultimately led her to her first encounter with pharmacogenetics and a genuine fascination with the subject.

Researching warfarin

A few years later, Mia Wadelius had the opportunity to specialise and conduct research in pharmacogenetics at Uppsala University Hospital. For many years, she researched how the anticoagulant drug warfarin is influenced by specific genes.

“It was highly intriguing because two genes played a pivotal role, determining both the required dosage for a patient to achieve therapeutic effects and the patient’s susceptibility to bleeding due to the drug”, she reveals.

Today, newer and more advanced medications have reduced the use of warfarin. Instead, Mia Wadelius collaborates with her colleague Pär Hallberg in researching adverse drug reactions, a partnership she describes as pivotal.

“Pär Hallberg has initiated a national biobank to collect data from individuals who have experienced severe side effects, and we work together on this”, Mia says.

In addition to her collaboration with Pär Hallberg, international exchanges and networking have played a significant role in Mia Wadelius’ research efforts.

“My year as a postdoctoral researcher at the Sanger Institute in Cambridge expanded my network among researchers in Europe and the rest of the world. It has afforded me the privilege of participating in several international collaborations”, she shares.

One such collaboration involves Mia Wadelius’ contribution to developing treatment guidelines for medications influenced by pharmacogenes.

Spreading knowledge presents challenges

An important next step in Mia Wadelius’ research is to disseminate knowledge about “pharmaceutical genes” to the healthcare sector and to introduce genetic analysis before treatment. This is a challenge within her field.

“Genetic analyses are already conducted in healthcare, but they are infrequent and often after a patient has experienced symptoms suspected to be caused by genetic variations. Some individuals become seriously ill or even die due to taking medication affected by their genetic variants”, Mia Wadelius warns.

To move forward, she identifies several areas that need improvement in Swedish healthcare: better visibility of “pharmaceutical gene” results in medical records, the implementation of tools in electronic health record systems that warn against dangerous drug-genotype combinations, and the inclusion of information on medication management for individuals with rare variants in FASS and clinical practice guidelines.

Mia Wadelius also serves as the national coordinator for pharmacogenetics in Genomic Medicine Sweden (GMS), an organisation that coordinates the integration of precision medicine in Sweden. She acknowledges various challenges in this role.

“For several years, GMS has successfully analysed and addressed large-scale mutations contributing to cancer or rare diseases. However, it remains a challenge to disseminate information about medication genes that increase the risk of side effects”, she remarks.

One of the world’s most cited researchers

Mia Wadelius is one of the five researchers at Uppsala University featured on Clarivate’s list of the world’s most cited researchers. Being on this list is something she finds a bit surprising, and she humbly points out that many other researchers have published far more than she has.

“It’s really exciting and an honour to be on the list, but I can’t quite explain why. I think it’s due to my extensive international collaborations”, she states.