Predictive testing estimates the probability that a person will develop a given condition. For potential patients, that information can be valuable: knowing about a risk in advance can support prevention, guide lifestyle choices and allow earlier diagnosis, in some cases improving the outcome of later treatment.
The use of these tests also raises a series of ethical and philosophical questions. Patient autonomy, psychological wellbeing, responsibility towards family members and the allocation of healthcare resources all come into play.
The result is a genuinely moral debate: how should uncertain knowledge about the future be used without treating it as a certainty? We put the question to Prof. Massimo Reichlin, Full Professor of Moral Philosophy and Dean of the Faculty of Philosophy at UniSR.
The first distinction concerns what a result actually means. Possibility, predisposition and probability are three different concepts. Possibility follows simply from being human, combined with how common a condition is in the population. Predisposition, on the other hand, describes an individual condition that raises the risk for a specific person. Probability expresses how much more likely the condition is to develop, compared with the general population.
A result points to a risk, not to the certainty of a present or future illness. As Reichlin puts it, «predictive tests are not diagnoses: they do not reveal whether one pathological condition or another actually exists, only that the probability of developing it, relative to the general population, is higher».
How that result is communicated becomes decisive. If the probabilistic nature of the test is not made clear, patients risk making hasty or poorly considered decisions. Overusing these tests can also backfire, triggering a level of anxiety out of proportion to the person's actual condition.
Probability deserves serious consideration, but it leaves room for different courses of action. In some cases it can justify further investigation or treatment; in others, it is not enough to proceed. The right response depends on the reliability of the test, the specific circumstances of the patient and the treatment options actually available.
Among the concepts of moral philosophy at stake in predictive medicine, autonomy and freedom sit at the centre. Access to information about a person's present and future health allows them to make decisions about prevention, lifestyle and possible treatment.
Autonomy, however, requires more than simply handing over a piece of information. «Autonomy cannot simply mean respecting the patient's right to know the truth and decide for themselves», Reichlin observes. The right to know and to choose is necessary, but not sufficient. Patients find themselves in a position of heightened vulnerability, facing a decision that involves medical knowledge, psychological reactions and emotional weight.
Healthcare professionals must support the patient's capacity to decide. That support means giving people the tools to make a choice that is genuinely informed and consistent with their own values, not substituting the clinician's own wishes for the patient's.
This is what is meant by relational autonomy: a form of autonomy that situates the individual within the relationships in which they live. The decision belongs to the patient, but it also sits within a relationship of trust with the professionals providing their care. «The autonomy to be protected and promoted is a relational autonomy, in which the patient's decision-making authority is placed within the broader context of their relationships», Reichlin explains.
Non-directive counselling has an important role to play here. Its purpose is to help someone understand the information and the alternatives available, without telling them which decision to make. This approach can prevent both choices made without enough information and unfounded pessimism about the future, while keeping the patient as the ultimate decision-maker on matters concerning their own health.
The principle of autonomy underpins what is known as the “right to know”. This right protects a person's ability to learn the essential facts about their own health: only with that information can someone make choices that are fully aware, considered and therefore autonomous.
Its counterpart, the right not to know, follows from respect for free choice and from the principle of beneficence. A person may decide not to learn the result of a test in order to protect their psychological wellbeing from information that carries predictive, not diagnostic, weight.
In medical ethics, beneficence refers to the duty of healthcare professionals to act in the patient's overall interest, across every dimension of their wellbeing. That includes physical health, but also the psychological and social consequences that such knowledge can carry.
According to Reichlin, choosing not to know reflects «an interpretation of the “best interest of the patient” grounded in a subjective weighing of the considerations at stake, and therefore itself an expression of autonomous judgement». Knowing and not knowing are both possible expressions of a rational choice, the outcome of an autonomous assessment of risks and benefits.
The picture becomes more complex when a test identifies a hereditary mutation. The result concerns the person who took the test directly, but it can also carry relevant information for children, siblings or parents.
This creates a tension between the right to privacy and moral responsibility towards one's relatives. In legal terms, a person is entitled to protect their own health information. On moral grounds, however, there can be a reason to share it with someone who might face the same risk.
«Responsibility towards one's relatives calls for an openness to disclosing information that could be relevant to another person», Reichlin states. That responsibility grows heavier when the condition is serious, the risk potentially high, and there is a real possibility of intervening through preventive measures.
The nature of the relationship with family members also matters. Even so, the more serious the risk linked to the possible condition, the stronger the moral duty to share that information becomes, even when personal relationships make that disclosure less spontaneous.
Medicine remains a probabilistic science, and every decision carries a margin of doubt. With predictive tests, that uncertainty is even more pronounced, because the condition the test points to might never develop.
Every choice must therefore take into account the possibility that the predicted event will not occur. Not all interventions carry the same weight, though. Decisions that are minimally invasive, such as adopting a particular diet or increasing the frequency of check-ups, can be reasonable even when the risk is only probable.
More significant interventions, surgery among them, call for careful evaluation: because these are highly consequential choices, the degree of uncertainty remains central to the decision.
The decision has to weigh risks against benefits. It must take into account the reliability of the test, the specific circumstances of the patient and the practical availability of treatment options. Contemporary theories of rational choice, and the criticisms levelled at their classical framework, can inform this reflection, not least because they grapple directly with decision-making under uncertainty.
The ability to anticipate a condition gives prevention an even more prominent role. Predictive tests are a valuable tool in this field, but they remain distinct from diagnostic screening in terms of how certain their results are.
There is also a question of cost. Predictive tests can be expensive, and public healthcare resources are limited. Deciding how to divide those resources between prevention and treatment becomes unavoidable.
Preventing a disease is preferable to treating it. That principle, though, has to coexist with protecting the resources set aside for people who are already ill or who will inevitably become so. «There is a risk, in the justified emphasis on predictive medicine, that we forget the priority of care», Reichlin points out.
Striking that balance is not straightforward. It requires empirical studies that can demonstrate the real value of different interventions in terms of the quantity and quality of life gained. Only on that basis can reasonable decisions be made about how to allocate healthcare resources according to justifiable criteria.
Contemporary bioethics has debated the concept of autonomy at length. The liberal tradition, starting with John Stuart Mill, gave a central role to individual freedom and to a person's capacity to direct their own life.
Later currents of thought corrected some of the individualistic emphasis of that tradition. In particular, the ethics of care and feminist ethics developed the notion of relational autonomy, drawing attention to the role of relationships, vulnerability and support in individual decisions.
This perspective helps make sense of the questions raised by the ethics of predictive testing. A person needs to be able to decide autonomously, but they also need information they can understand and adequate support along the way. Reichlin argues that «autonomy should not be understood as the right to be left alone». It should instead be understood as the right to receive support in one's own choices, without being deprived of the ability to decide.
Predictive tests can improve a person's life when they make prevention, early diagnosis and more informed health decisions possible. They can also produce negative consequences if their results are read as certainties, if they trigger unwarranted alarm, or if they lead to disproportionate interventions.
Their value depends as much on scientific reliability as on how they are proposed and communicated. Clear information, support for autonomy, a careful weighing of risks and benefits, attention to family responsibilities and a continued priority on care: these are the conditions that turn a prediction into a useful tool, rather than a burden that is hard to manage.