Personalised Medicine: More Than Just Personal
This capacity to sequence a person’s DNA in both their nuclei and mitochondria (their genome) and to compare the result to a reference set of sequences to facilitate understanding of the variants found and related pathogenicity, has developed at an extraordinary pace.
The result is a new medical discipline called genomic medicine which is beginning to inform diagnostic, therapeutic and reproductive decision-making and will predicate a seismic shift in health policy. It is provided still largely in the public sector but with increasing commercial interest. In some cases that interest is to provide the test and result via the internet without the involvement of a healthcare practitioner: so called, direct-to-consumer testing.
Genomic medicine underpins a number of concepts such as ‘precision medicine’ and ‘P4 medicine’ (predictive, personalised, preventive and participatory).
The promise of genomic medicine is not limited to the facilitation of diagnosis, prognosis and potential treatment of patients. It can also underpin the identification of disease susceptibility in healthy people, where risk reduction strategies can be implemented for each individual and for populations.
The shared nature of DNA necessarily broadens patient-centred care to encompass well genetic relatives, thereby addressing not only the individual’s needs but also of the family, and concomitantly minimising harm. These aims require a shift in the delivery of healthcare.
Genomics science and the Australian health system
The aim of a healthcare system is to provide “”. The increasing influence of genetics on patient care will require national and international government and non-government agencies, clinicians, researchers and, most importantly, consumers to form
