Researchers at the University of Helsinki are using extensive genomic data that will help more effectively and precisely to identify, treat and prevent diseases occurring in women.
Delayed diagnoses, adverse drug effects, unnecessary pain. This reality for many women is the result of women's health issues being understudied globally. We know less about diseases that particularly affect women.
The problem is not limited to gynaecology or reproductive health. The symptoms and risk factors associated with coronary heart disease and many other disorders may differ in men and women, but the data and care guidelines are primarily based on studies with male research subjects or where gender differences have not been considered.
This also applies to drug development: pharmaceuticals are recalled due to adverse effects 3.5 times more frequently with women than with men. In the worst cases, drugs are less effective in women than men.
"This is a problem that should have been addressed long ago," says Research Director Elisabeth Widén, who specialises in medical genetics at the University of Helsinki.
At the heart of these issues lies a deeply rooted mindset.
"Society tends to downplay women's diseases and symptoms, such as pain, which of course should not be the case," Widén says.
Future healthcare is proactive and precise
Diagnostics and therapies can be improved with sufficient research-based knowledge.
At the Institute for Molecular Medicine Finland under the University of Helsinki, women's health is promoted by producing knowledge that supports the integration of precision medicine into healthcare.
Precision medicine is based on the idea that molecular research can measure biological differences between individuals increasingly accurately. This makes it possible to provide patients with tailored therapies.
"The type of medication beneficial to patients can vary on the basis of their biological differences. This approach also improves our understanding of disease courses and prognoses," says Widén, who serves as FIMM's deputy director.
Investigating gender differences is an essential element of precision medicine. Understanding the relevance of gender to the course and symptoms of diseases helps to provide increasingly precise and research-based care for women.
A boost from unique research data
In Finland and at the University of Helsinki, the foundation for promoting precision medicine is solid. Researchers have access to the internationally unique FinnGen dataset that comprises the genome and health data of more than 500,000 Finns.
Its large scale makes FinnGen a valuable asset for research on women's health. In contrast to many other datasets, it also contains comprehensive details on women's health specifically.
"The data enable us to investigate topics that have so far remained on the sidelines," Widén says.
These include gestational diabetes and autoimmune diseases, the latter being more common in women than in men.
Progress already made
One example of advances in precision medicine achieved with the help of the FinnGen data is a polygenic risk score scheme for breast cancer developed collaboratively by the University of Helsinki and HUS Helsinki University Hospital. This score can be used to identify a previously unknown group of women with a higher risk of developing the disease.
Even though specific genes have been known to increase the risk of hereditary breast cancer, Widén's research group found that only 10% of breast cancer cases suspected to be hereditary were explained by such individual mutations that increase cancer risk. When a polygenic risk score was combined with single-gene testing, the group found that 25% of women had an elevated polygenic risk.
Polygenic risk means that the onset of breast cancer is affected simultaneously by several gene variants, each of which increases the risk slightly. Added together they can raise the risk significantly.
Intensive imaging surveillance and preventive measures are currently only offered to women who have been diagnosed with gene disorders. Research has shown that polygenic risk testing can identify previously overlooked at-risk individuals and screen them for breast cancer with increasing accuracy. This way, cancer can be diagnosed earlier.
Genetic research advances the detection and treatment of other diseases as well. Progress has also been made in understanding gestational diabetes, on which research has so far remained scarce.
"Research continually improves our opportunities to help patients more precisely and efficiently. Finland is well-placed to promote equality in medicine," Widén notes.
