"At the moment newborns are screened for a small number of mutations. In the future we may have a scenario where we screen for a much larger number of mutations, which may allow us to detect genetic diseases earlier and better optimize prevention and treatment," says Paul Franks, professor in genetic epidemiology at Lund University and lead author of the article in Journal of Internal Medicine (JIM).
In Sweden, the PKU-test has been given to newborns since the 1960:s to be able to detect rare disorders. The PKU-test is only one example of how we can make use of genetics to give the right treatment at the right time. A more recent example of genomic-driven medicine is genetic testing for inherited breast cancer.
The researchers behind the article in JIM are part of Genomic Medicine Sweden (GMS), a national venture for the implementation and development of precision medicine in Sweden. The review summarises the conditions for precision medicine within different disease areas and highlights a few fields with a high degree of technological readiness – cardiology, endocrinology, obstetrics, gynecology and psychiatry. Researchers at Lund University and Karolinska Institutet have led the work with the review article.
"We all come from different disease areas, which I think is a great strength. I have a background in diabetes research, whereas the three other lead authors at Karolinska Institutet are experienced in fields such as clinical and psychiatric genetics, cancer and allergic diseases," says Paul Franks, researcher at Lund University Diabetes Centre (LUDC) and scientific director at Novo Nordisk fonden in Denmark.
Treatment of diabetes
Precision medicine is often defined as providing the patient with the right treatment at the right time. New genetic techniques, image diagnostics and big data create new opportunities to treat complex diseases. The review article in JIM discuss how more powerful data and analytical approaches could improve diagnostics and treatment of different complex diseases, such as diabetes.
In a clinical context, precision medicine may aid diagnostics by identifying subgroups within a complex disease where the patient can benefit from a targeted treatment. An example of this is a study from researchers at Lund University Diabetes Centre (LUDC) that divided diabetes into five different types instead of the current classification into two main forms. The researchers are now studying if different groups of patients with type 2 diabetes need different kinds of treatments.
"Currently we are studying how different groups of patients are responding to different treatments. We hope that our work with the sub-classification can lead to better treatment of diabetes," says Maria Gomez, professor and coordinator of Lund University Diabetes Centre (LUDC) and one of the authors of the article in JIM.
Priority to other ethnic groups
Precision medicine raises questions around ethics and equality. GDPM involves the collection of genetic data, which needs to be stored in a secure manner. The vast majority of human genetics has been undertaken in people of European ancestry. Studies of other ethnic groups should be prioritised in the future, according to the authors.
"Genetics has a lot to offer, but we need to make sure that we now give priority to research in non-European ancestries, so that we don’t miss out on rare variants of interest. We also need to ensure that precision medicine helps decrease health disparities rather than increase them," says Paul Franks.