Genomics and genetics: is the law keeping pace?

Genetics is the study of heredity, whereas genomics is defined as the study of genes and their functions, and related techniques.

The main difference between genomics and genetics is that genetics scrutinises the functioning and composition of the single gene, whereas genomics addresses all genes and their inter-relationships in order to identify their combined influence on the growth and development of the organism.

Genomics can assist in personal health profiling, disease diagnostics, research and precision medicine.

Legal and ethical issues arise in relation to genomics, including equity of access, consent, confidentiality, availability for the greater good versus privacy, patient choice and ownership.

Currently, gene technology is regulated in Australia through a number of laws including the following:

• Gene Technology Act 2000 (Cth), specifically section 32 which prohibits a person from dealing with genetically modified organisms without a licence or other authority under that legislation;
• human tissue legislation, such as the Human Tissue Act 1983 (NSW); and
• Prohibition of Human Cloning for Reproduction Act 2002 (Cth).

While genomics brings the prospect of benefits for patients and the potential to revolutionise diagnosis, screening, prevention and treatment, it also raises a number of ethical challenges, including:

• Equity of access: should access only be available to those who can afford to pay for it?
• Consent: can a person consent without knowing the full implications of what they are consenting to? With genomics, the boundaries of the possibilities are constantly expanding.
• Confidentiality: the sharing of patient information is vital in order to assess the significance of individual genetic variants by comparing them to the norm. Genomics may test the boundaries of consent, particularly when information is known about one person, but could be of significant value to their family members and their health care providers.
• Availability for the greater good and adequate protection of genetic data: what if something is discovered of clinical significance to humanity? The uniqueness of our genetic data means that it can never be truly anonymous. Protections need to be put in place to reduce the risk of discrimination based on genetic characterisations.
• Patient choice: many patients have suffered several years of delayed diagnosis. Genomics may result in significant improvement in patient outcomes. In the future, should genomic testing be mandatory for the population to assist with health planning? However, people should have a right to privacy and many people may make the conscious choice not to be provided with information concerning their mortality. Ultimately, the challenge is to enable patients to have the choice. If they have the choice, then are they stealing from their family members their choice as well?
• Ownership: what if a particular individual’s genome is so unique as to unlock a key in medical discovery? Should pharmaceutical companies own intellectual property rights and therefore monopoly rights involving the fabric of a person’s genome?
• Ethics and religion with selection and genomic manipulation: at what point does genomic manipulation become acceptable? To save a life? To save many lives? To save a population? What religious and cultural considerations should be taken into account? How far should patient choice go? For example, medical science is used already in some cases in relation to the non-selection of embryos with defective genes, or testing for the risk of birth defects. What about using it for choosing the sex of a baby and/or physical or mental attributes?

The time is fast approaching where the development of technology is testing the boundaries. The question is whether or not the law (and legal protection) will keep pace?