Genetic testing for iron disease (hemochromatosis)
A major genetic testing trial will be run in Victorian workplaces over the next three years, with 30,000 people to be screened for hemochromatosis, an iron overload disease that can cause heart and liver damage.
Researchers say the trial could pave the way for Australia’s first full adult genetic screening program.
“We’re arguing that information gained will be so important, priceless really, from the point of view of the humans genome project… a population –based genetic-screening prototype,” researchers Katie Allen said, “it’s a bit like a vaccination program.”
Genetic screening for hemochromatosis could save lives and prevent thousands of cases of heart and liver damage by identifying those at high risk and enabling them to take action – chiefly donating blood – to prevent it, she said.
“Dr Allen’s uncle had died at the age of 55 of liver damage secondary to hemochromatosis, but the disease has been diagnosed only when it was too late to prevent its efforts.
Dr Allen is the chairwomen of the committee in charge of the trial, HemoScreen. The trial would be run by the Victorian Clinical Genetics Service, part of the Murdoch Children Research Institute using philanthropic funding for the first year of research in 2001. The Victorian Government is assessing an application to fund the second and third years.
Major companies, including the National Australia Bank, have indicated interest in taking part in the trial as the way of looking after their staff’s health and safety, she said.
Employees taking part would be educated about the test by e-mail, brochures and an information session, Dr Allen said. Willing participants aged under 35 would be asked to complete a questionnaire and consent form. The workers would take the genetic samples by brushing the inside of their cheeks.
About one in 300 Australia’s have two copies of genetic mutation, which means they will probably get hemochromatosis, she said. Estimates of those who went onto develop the disease ranged from 50 to 90 percent. The disease has also been linked to chronic fatigue syndrome, arthritis and diabetes.
The issue of the potential for the genetic discrimination by the life insurance companies against those who test positive is still undecided.
The deputy chief executive officer of the Investment and financial Services Association, Richard Gilbert, said that with intervention a person with a relevant genetic mutation might not be at raised risk of early death. The trail was under consideration but no decision had been made.
Article taken from The Age 18th October, 2000. By Vitoria Button Medical Reporter