The ‘new genetics’ refers to the application of DNA-based knowledge to clinical practice. It is only 50 years since Watson and Crick reported in April 1953 that DNA was a double helix, and in this form it could function as the source of genetic information in the cell. From this emerged molecular biology and the ‘new genetics’. Today, health professionals and the community are faced with many new discoveries in genetic medicine, as well as the challenges which go with these developments.
Another milestone was the Human Genome Project (‘HGP’) which started in 1990, and finished in 2000. The HGP was considered unachievable by many because of the difficulties associated with sequencing 3.3×109 bases which make up our DNA. However, technological advances, including partnership with industry, produced a complete sequence of the human genome as well as those of many model organisms five years earlier than originally planned. These sequences are now in the databases waiting for researchers to analyse them. The information coming from the HGP will reshape future clinical practice, not just in clinical genetics, but in a wide range of clinical and para-clinical disciplines.
Prior to the HGP we spoke about the new ‘genetics’. Today this term is becoming outdated as ‘genomics’ takes over. With genetics, the focus was on single gene disorders and single genes. With genomics, we now have the tools to look at the complete genome and how it interacts. Some extend the definition of genomics to include the study of genes and their interactions with the environment. The rapid developments will provide many opportunities but also uncertainties. Challenges that must be addressed to maintain high standards of clinical care will include the education of the community and health professionals. The legal profession will need to be informed if it is to arbitrate in times of dispute. For the future it is essential that bright minds as well as the best motivated graduates are attracted to clinical practice in the genomic era. How is this to be achieved?
A start has been made with the Australian Law Reform Commission’s (‘ALRC’) final report entitled Essentially Yours: The Protection of Human Genetic Information in Australia (‘ALRC Final Report’). The recommendations in the ALRC Final Report have far reaching effects, and if implemented appropriately, will ensure that the genomic era provides Australians with better and more affordable health care. The Report has produced 144 recommendations, and was tabled in Parliament in May 2003. It is now being considered by the Commonwealth Government. Two major themes have emerged from the Report, and these will be discussed separately before recommendations of particular relevance to clinical practice are reviewed.