04 September 2020

Genetic Testing

The Australian Medical Association has released its Position Statement on Genetic Testing and Genomics in Medicine 2020, an update of the AMA Position Statement on Genetic Testing 2012 - expanding it to include not only genetics (the study of individual genes and associated inherited conditions and traits), but also genomics (the study of an individual’s genetic material and the influences of environmental and other factors). 

 AMA President, Dr Omar Khorshid, said that the Position Statement highlights the capacity of genetics and genomics to rapidly transform health care, potentially providing more cost-effective treatments and improving patient outcomes

The AMA believes genetic and genomic technologies should be incorporated into everyday health care, and that genetic discrimination should be prohibited. There should be equitable and efficient access to safe, evidence-based genetic and genomics testing services throughout Australia.  This requires appropriate infrastructure, workforce planning, and investment in training and development to ensure a genomic literate workforce, including an ongoing high-quality genetic pathology-related workforce. The ethical, economic, and social issues associated with genetic and genomics testing must be addressed to remove any barriers and disincentives, and allow equitable access to these services. 

The updated policy: 

  •  recognises the importance and role of genomics in health care, 
  • makes clear that the AMA supports the current legislation prohibiting the patenting of human genes, 
  • makes clear that the AMA condemns the practice of eugenics, 
  • reaffirms the position that genetic selection should not be undertaken on the basis of sex unless it is to reduce the risk of transmission of a sex-dependent condition, but expands this to also include or a disease that would severely limit the person’s quality of life, 
  • incorporates a new section on the emerging issue of genome editing, addressing both somatic and germline genome editing, recognising these technologies may be acceptable for research purposes, provided they are appropriately regulated, and is clear that germline genome editing for the purposes of reproduction should be prohibited at this time as it requires further scientific, ethical, and social considerations because the potential risks to the health of future generations are as yet unclear.