Precision medicine promises treatments that are tailor-made to the individual. An individual's genetic make-up, or the particular genetic changes in the cancer they have, may allow targeting of treatments to individual genomic variations. Such precision tailoring has been made more affordable and feasible by the advent of new, rapid genomic technologies such as whole genome sequencing. These new technologies bring a sea change in medicine, but they also bring ethical challenges. Whilst none of these is unique to genomics, there are some that merit special attention as the technical advances continue at an astounding pace.
In this chapter we outline some key issues and some of the questions raised by new genomic technologies. In particular, we focus on some of the familial tensions that may arise from germline genomic information; genomic information from analysis of the tumour itself does not generally raise these issues.
Germline genomic information is to some extent both familial (i.e. it is information shared by, and therefore of potential relevance to, other family members) and personal to an individual. Much like in the medical management of infectious diseases, there may be times when healthcare professionals want to alert relatives to the risk they have discovered in an individual. This may never be a problem if individuals are willing to share relevant information with family members, and do so effectively. An example might be the discovery of a BRCA1/BRCA2 mutation in one person, which confers a high risk of cancer: issues can arise if a patient is not willing, or able, to share the information with relatives, or where a healthcare professional has information but is unsure whether relatives are aware of their risk.
Although UK General Medical Council guidance gives genomic information as one example where confidentiality is not absolute and where it may be appropriate to share information without consent with at-risk relatives, there are still many situations in which professionals may be very unsure as to what their responsibilities to family members are; for example, with whom should the onus lie for such communication? When should healthcare professionals feel obliged to inform others, or even to breach their patient's confidentiality? Given that different inherited mutations may result in different lifetime risks of cancer, what level of risk would sway the balance? Do healthcare professionals have more of a responsibility to ensure the information is communicated when there are surveillance or treatment options that could potentially prevent harm to at-risk relatives? Furthermore, do family members have a right to know that they are at risk even if no interventions are available? If they do, who has an obligation to ensure this right is realized?
Traditional approaches to patient care, which view confidentiality as a principle applicable to individuals, can raise difficulties for healthcare professionals when they know the information (potentially) applies to more than one person. Arguably, this ...