ABSTRACT

The patient presents with an illness, a diagnosis is made, and a medicine and dose are selected based upon the mean response of patients in clinical trials and the physician's own experience. The work of S. Tan et al. shows how variations in the drug target or receptor can influence a patient's response to treatment. The ethical, legal and social implications (ELSI) which arise include the potential for discrimination, the psychological impact on the patient and family, the implications for health care of patient and family and the need for pre- and post-test genetic counselling. These profiles may take the form of gene-specific profiles and/or abbreviated Single nucleotide polymorphism (SNP) profiles that have been demonstrated to correlate with a response. The ELSI issues associated with 'genetic testing' vary considerably with predictive testing for Mendelian disease at one end of the spectrum and limited SNP profiling for pharmacogenetic use at the other.