Value-based biomedical research and health care is a timely topic. It is defined by the practice incorporating the highest-level research data with the patient-perceived value for achieving the best outcome in health care. Life-long health is one of the research focus area at the University of Oulu. The translation of biomedical research into applied health care is a slow process and can take decades to see the outcome. Successful examples spark the courage and energy to continue the best quality research and bridge biomedical research and health care.
Value-based biomedical research and health care is also the current topic of the Science Day of the Campus of Kontinkangas that is organized on February 18th 2020 jointly with the Faculty of Medicine and the Faculty of Biochemistry and Molecular Medicine at the University of Oulu. Four specialists from the University of Oulu and Oulu University Hospital tell how they see value-based biomedical research and health care in their field of expertise now and in the near future.
Prof. Johanna Myllyharju, PhD. Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu.
University of Oulu has a long tradition in connective tissue research, especially on collagens, the major building blocks of connective tissue, and the enzymes required for collagen synthesis. The value of this knowledge leaped to an unexpected dimension in 2001, when novel enzymes that sense the oxygen level of cells were discovered and found to be mechanistically related to the collagen enzymes. The oxygen sensing enzymes control a rescue program - a hypoxia response - where hundreds of genes are activated under deprived oxygenation aiming at restoration of tissue oxygen homeostasis. The response includes for example induction of erythropoietin production and hence red blood cell formation to enhance oxygen transport, and induction of several enzymes required to direct metabolism towards pathways that are less dependent on oxygen. The discovery of the hypoxia response mechanism was awarded the Nobel Prize of Medicine in 2019. The knowledge generated for decades in the context of collagen synthesis enzymes provided a jump start for drug development targeting the related oxygen sensing enzymes, and the first such drug was approved in 2018 for treatment of severe anemia caused by chronic kidney disease. In my opinion this story is a prime example that knowledge builds knowledge and prior knowledge may turn out to have entirely unprecedented value.
Professor Mikko Hallman, MD, PhD. Faculty of Medicine, University of Oulu and Oulu University Hospital
Premature birth before 37 weeks of pregnancy affects 6% of children born in Finland, and 12% of children in the world, causing some 5 million deaths every year and multiple chronic diseases, annually resulting in loss of 90 million quality-adjusted life years (QUALY). The research in rather recent past has resulted in a remarkable decrease in severity of diseases in the newborn and saved millions of lives; this trend continues. At the same time, the prematurity rate has increased and in order to provide effective prevention of chronic diseases of prematurity, the focus is gradually shifting to research on the causes of spontaneous premature births and of the diseases in the fetus. Spontaneous onset premature labor causes 70% of all premature births, and there are no discoveries that have substantially decreased this problem, uniquely common in human species. However, present research efforts focusing on the human reproduction are encouraging a true progress in understanding of the actual mechanisms regulating the onset of premature births may be taking place, possibly leading to medical applications that substantially reduce the risk of premature births, rather near in the future.
Professor Marjo-Riitta Jarvelin, MD, PhD. Faculty of Medicine, University of Oulu and Imperial College London, UK
For effective, patient centered and valued care we will need sound clinical and epidemiological research based evidence, from basic and applied studies. Overall, this approach is not that new, got its partial wings in early 1990s though, and has recently received more and more professional and public attention, and patient awareness has improved. During the past 20-30 years large scale epidemiological and clinical research accompanied by technological and analytical advances has made it possible to improve targeted patient care and to approach patient valued medical treatment. At the moment our resources have exponentially increased along the establishment of large scale bio-banks in many countries allowing the analyses of risk factors of non-communicable diseases and even treatment efficacy in tens – hundreds of thousands of subjects. Although these data allow establishment of causal pathways using both genetic and clinical information, needed for clinical decision making, still there are multiple caveats. This is especially true when we are looking into multifactorial diseases such as cardiovascular diseases which develop along the life-course. In practise the vital data such as persons’ experiences, how they feel about the things and more in-depth understanding of mental health maybe entirely missing, biological measures maybe taken very late in life and childhood data completely missing. Another, quite complicated aspect is that how basic scientific evidence will be tested in clinical practice and translated to patient care on a value-based basis. In the future we will need research which is based on in-depth data (psycho-social, clinical, biological/genetic data) along the life-course in large enough samples along-side bio-banks. We will need to improve translational aspect of research. We may be able to predict now that increasingly multifaceted data will be used in making informed patient–centred and valued decisions. The final goal of value-based medicine is improving quality of healthcare and using healthcare resources efficiently.
Professor Robert Winqvist, PhD. Faculty of Medicine, University of Oulu and NordLab Oulu.
Breast cancer is world-wide the most common malignancy among women, and as much as 5 to 10% of the cases is estimated to be due to strong inherited predisposition. Scientific research has already been able to uncover several important disease susceptibility genes, such as BRCA1, BRCA2 and most recently also PALB2. Whereas the normal function of these genes is crucial for guarding the cells from the harmful effects of DNA damage, this protection is severely compromised in the individuals carrying a single specific germline mutation in any one of the genes, thus significantly increasing their life-time risk to develop breast cancer, but in some instances also ovarian cancer as well as a set of other malignancies. Importantly, the knowledge of these high-risk malignancy susceptibility genes has subsequently been widely utilized in the clinics in genetic counselling and to test individuals from breast cancer families for possible disease-associated mutations. Identified female mutation carriers can opt for disease-risk reducing surgical measures and/or intensified disease surveillance, both measures aiming at minimizing malignancy occurrence, and in the event of a disease to enable its early detection, when treatment is most successful and the prognosis for patient recovery is at its very best. Identified male mutation carriers can opt for intensified malignancy surveillance. Relatives to all observed female and male risk gene mutation carriers can opt for genetic counselling and individual testing of mutation status. However, as currently the known high-risk susceptibility genes account for less than half of all familial breast cancer cases, it is very important that also the remaining hereditary risk factors would be identified.
I envision that within the next 10 years, the utilization of still more powerful next-generation sequencing approaches and other novel technology will lead to the identification of many further hereditary risk factors for breast cancer, and also uncover important details about their cellular function and biological impact. Further knowledge on these important issues will lead to improved hereditary cancer risk diagnostics and disease monitoring, but also novel means for developing better and personalized tools for successful cancer therapy.
Interviews by: Renata Prunskaite-Hyyryläinen, PhD, University of Oulu & Antti Haapalainen, PhD, University of Oulu
Last updated: 13.2.2020