17 March 2016
In this new document on human genetics the NBC deals with the bioethical issues raised by the rapid evolution of second generation genome sequencing techniques, which over the recent years have transformed and speeded up research on and the diagnosis of many illnesses. These new techniques have posed the need for new shared guidelines and, in particular, standardised regulations for managing the so-called incidental findings, both at clinical and research levels.
Following a description of the state of the art, the NBC goes over a number of crucial ethical steps of the debate with particular reference to the discussion on the theoretical foundations of the „right not to know‟ in a genetic
context.
Even though aware that this transition from basic knowledge to clinical applications is characterised by a high degree of uncertainty and by knowledge that runs the risk of getting outdated in a short space of time, the NBC highlights some of the requirements for the genetics centres and the
laboratories carrying out such tests. It stresses that the uncertain demarcation of the line between research and its clinical applications must never let one lose sight of the fact that the diagnostic tests are primarily aimed at giving a
diagnosis to the patient, whose needs must remain at the centre of the investigation, and thus recommends that the patient/sample are included in a research project only when the diagnostic investigation has been concluded (either positively or negatively).
Furthermore, it recommends that the traditional distinction is made
between adults and minors in clinical investigation and research and that the „best interest‟ of the subject, not yet able to give their own consent, is placed under a particularly careful assessment. It is also recommended that, upon
coming of age, the minor is contacted and able to choose to give/not give their consent to the further conservation of their samples and data (as already highlighted in the Opinion Paediatric biobanks).
As far as concerns the question of the returning of information to the donors of biological samples for research purposes, the NBC considers that, in the case of research foreseeing the gathering of large samples, it is unrealistic to contact the donors to update them on the results, which to date would hardly have any clinical significance of single interest. On the other hand, it considers that if requested it is morally dutiful to guarantee the return of the results of clinical relevance (incidental findings included) to patients with rare diseases and still without a certain diagnosis, always leaving the possibility of opting only to know some types of information to the individual.
Lastly the NBC stresses that the central role played by genetics and genomics in the healthcare panorama makes it increasingly urgent to rethink
the training of the professional figures committed to this field of medicine and, at the same time, the organisation (starting from the school) of initiatives at
various institutional levels aimed at citizens, in order to foster the acquisition of the necessary knowledge, which equally includes bioethical knowledge, so as to actively and critically tackle these transformations.