The paradigm of modern medicine is shifting rapidly towards improved diagnostics and proper classification (stratification) of diseases accompanied by insightful analysis of DNA of individual patients. The aim is personalized medical treatment, perfectly suited to the disease and the patient. This encompasses molecular diagnosis of the patient’s disease, but also ascertaining of individual differences affecting such parameters as drug metabolism, disease course and response to treatments. Also environmental and occupational exposure, nutrition, and life style can be taken into account. In short, this type of approach is expected to expedite diagnosis of diseases, help doctors select the best treatment and avoid using drugs which are known not to be effective, or may even be harmful, to the specific variant of the disease the patient has. In fact, prevention of harmful side effects is an important driver of personalized medicine. Another driver of the process is the pharmaceutical industry, which has realized that even the best drugs are only effective when given to the right patients for whom they have been designed. In the long run, the increased efficiency of personalized treatments is expected to result in considerable savings to the health care system and major benefits for the patients. While there is no empirical study to clearly demonstrate the former expectation, there is plenty of evidence for major benefits of personalized treatments for the patients as demonstrated by greatly improved survival rates of patients with several different types of cancers.

Some positive effects of personalized medicine can already be observed for many diseases, including for instance breast cancer, where earlier detection and better testing and more individualized treatment have led to improved survival of patients. Screening of new-borns for a number of diseases whose early detection leads to either prevention of the disease or improvement in the quality of life is another example where the benefits are obvious.

Although the effects of personalized genome analysis are apparent in the field of diagnosis and treatment of an increasing number of diseases, the enthusiasm for determining what is hidden in our genome is not without problems and may still outweigh the real benefits. This is definitely so in the case of most “common” diseases which are a complex outcome of genetic predispositions and environmental effects. In most cases intensive research has identified many genes each of which is responsible for only a very small part of the variability of the analysed disease or trait, and altogether they do not even begin to account for it. Nevertheless, as sequencing is becoming cheaper people are beginning to see genome analysis as a sort of investment in their own health. Currently whole genome analysis is rarely available in the clinical setting, though it is increasingly being used, either in the form of whole genome sequencing or as exome sequencing -analysis of only less than 2 % of human DNA which codes for proteins- for diagnosis of diseases which are believed to have a genetic cause which is not found by standard tests (Lupsky et al. 2010, 2013). Genome sequencing may also be increasingly used in the future in following the effects of cancer therapy or determining possible drugs which can be used for a given patient and stage of the disease (Vogelstein et al. 2013).

Research on the diseases caused by multiple genetic and environmental factors has led to the increasing need for very large groups of patients (and controls) whose genomes are scanned for mutations or polymorphisms which contribute to the analysed diseases or traits. This has led to the increased popularity of large collections of samples and related research data, known as biobanks. As defined in the Report of the IBC on the Principle of Non-discrimination and Non-stigmatization , “the term biobank refers to collections of biological material (blood, tissue, DNA etc.), whether collected as part of routine health care or as research-oriented cohort studies”. Although the word biobank is a relatively new invention, systematic collection of patient-derived samples, i.e. disease-oriented biobanks, is an old institution. Health care legislation of many countries considers routine collection and storage of human samples, originally obtained for diagnostic purposes, as an obligatory part of the quality control system of health care. However, when combined with different health-related registries, such biobanks can reveal important information on individual patients, and provide much-needed information on efficacy of different treatment modalities. Long-term storage of samples is important as this makes it possible to follow the progression, remission or relapse of a patient’s disease, its response to treatment and allows reclassification of the disease when molecular diagnostic tools are developed (UNESCO Report 2014). While storage of biological samples and related health information has rarely been considered a serious ethical problem when part of routine health care, use of biobanked samples for research purposes that could not be foreseen at the time of sample collection can raise ethical concerns. These often stem from determination of an individual DNA sequence from a small tissue sample, drop of blood or even from small numbers of cells each individual leaves just like fingerprints. However, individual DNA can even be identified in complex mixtures (Homer et al. 2008). Since the determination of the first complete human DNA sequences at the turn of the millennium, the cost of sequencing has dropped dramatically (by several orders of magnitude) and the speed has increased equally. Such technological development could not have been predicted 10–15 years ago. The ethical challenges that this new information brings about are the predictive nature of DNA sequence as discussed in this chapter, as well as the fact that DNA sequence is probably the most unique identifier of any human being. This is the basis for a special attitude towards the DNA sequence, even among those who do not worry about using biometric passports at border controls and giving their fingerprints for immigration officials.

Although collections of different types of materials from various organisms have been with us for a long time, two developments have opened up new possibilities, for both vastly improved understanding of human diseases and for improper use of knowledge relating to individuals. The first is the progress in sequencing technology, discussed above. The second is the creation of numerous, often very large population-based biobanks as long-term repositories of human materials within projects aimed at resolving the causes of complex diseases or at finding biomarkers which could allow their early detection. Such biobanks were first started in Northern European countries in the 1960s, where public support for this type of research and public trust to the researchers studying biobanked samples has been the highest. Currently, large well-known biobanks exist in the United Kingdom , Iceland , Estonia , the Faroe Islands and the Nordic Countries, but also elsewhere. In Europe, a Pan-European Biobanking and BioMolecular Resources Research Infrastructure (BBMRI) has been established to network European biobanks containing samples of tens of millions of individuals (Pan-European Biobanking 2014).