Life-and-death gene tests within 5 years

Written By Unknown on Senin, 04 Maret 2013 | 23.18

PARENTS will be able to learn their newborn baby's potential health risks from a genomic test conducted at birth within five years.

New Limited can reveal that leading Australian geneticists are already working with the federal Health and Ageing Department on a national framework for genomic testing .

There are also discussions about whether gene information could be attached to everyone's e-health record.

Garvan Institute chief Professor John Mattick said genomic testing would soon fall to $1000 and become a standard test conducted at birth.

"In decade or so, I expect that everyone's genome sequence will be done at birth and put on their medical record," he told News Limited.

"The real end game is changing medicine from crisis management of disease to health optimization and disease avoidance," he said.

Genetics expert for the Royal College of Pathologists, Professor Graeme Suthers, says that "within three to five years, it is likely we will be able to sequence the six billion neucleoids of individuals for under $1000".

"The speed of change here is overwhelming, the cost is halving every six months... we're in the midst of a revolution," he said.

Patients who had gene mutations suggesting they were susceptible to emphysema would be warned not to smoke, while those with mutations predisposing them to diabetes would be told to watch their diet and avoid putting on weight, Professor Mattick said.

Parents could learn whether their daughters may be at risk of breast or ovarian cancers, or if their sons in danger from prostate cancer.

The Federal Government has set up a Genetics Working Party involving key pathology stakeholders to develop a policy framework for genomic testing and it is due to report shortly, a spokeswoman for the Health and Ageing Department said.

Other government agencies, such as the Medical Services Advisory Committee, would have to assess the new technology against existing health care interventions and make assessments about its safety, effectiveness and cost effectiveness before it receives any government funding

One of Australia's largest pathology laboratories, Healthscope Pathology, says it hopes to have the next generation sequencing machines capable of carrying out genome testing within two to three years.

However, Healthscope business development manager Jonathon Witty said he thought doctors were more likely to use the new technology to test children for diseases where early intervention could make a difference such as cystic fibrosis or metabolic conditions.

University of Melbourne genetics and ethics expert Professor Bob Williamson questioned the purpose of some genome testing.

"It would be silly to test a child for a gene that might increase the risk of Alzheimer disease when the child is 80 years old, because by that time there will probably be lots of new treatments that would help," he said.

However, he said that "if a family know that a child is at risk of diabetes, they could spend some time making sure food habits are good, to lower the chance that the disease will develop later in life".

Professor Suthers warned that testing has the potential to be error ridden, could provide information parents may be unable to cope with and is unlikely to change our lifestyles.

While it may be good to know a child was more likely to develop asthma or leukemia, "would parents want to know their baby would develop an untreatable illnes and would die before the age of eight?".

There was the risk the information could be downloaded by computer hackers, affect life insurance premiums and job opportunities and overwhelm some people unless proper counselling was provided, he said.


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