Population testing for disease risk is coming. Here are five things to know



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DNA testing to predict the risk of illness Yet few Australians can currently access predictive DNA testing through the health-care system.

That may soon change.

As technology improves, the cost of DNA testing declines, and the Australian government in the field of DNA genomics, universal DNA screening is becoming feasible.

DNA testing would involve large numbers of otherwise healthy people having DNA testing, by providing a simple blood or saliva sample, to identify risk of certain conditions. This includes the types of cancer that can be prevented.

Being identified at increased risk does not mean you get the disease. But identifying risk early and before symptoms appear provides the opportunity for prevention. Prevention can be achieved through regular check ups, medications or even risk-reducing surgeries.

The new opportunities for public health prevention.



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But a number of challenges exist. How would we provide DNA testing to millions of people?

What about genetic discrimination? Could testing cause more harm than good, and lead to over-diagnosis? How would the health-care system fund this level of testing, and would it be cost-effective? Do people even want testing?

The concept of the population DNA screening is daunting. But the benefits could be huge.

Australia has the chance to do it properly. Here are five things to know.

1. DNA screening is not a crystal ball

DNA testing can not tell us everything. It is a risk for certain types of diseases, mostly caused by single gene changes. These are distinct from other common diseases where genetic risk accumulates.

BRCA genes, colorectal and other cancers caused by Lynch syndrome, inherited high cholesterol and other types of genetic heart disease.

Although these conditions are relatively rare, they are estimated to be 38 adults at high risk.



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Genetic risk for these conditions is often identified too late, after cancer is diagnosed or someone dies from a cardiac arrest. Limited health budgets is usually only available to people diagnosed with genetic diseases and their families, not healthy people.

This means that they are missing out on DNA testing that could be life-saving, and they are at risk of a condition that they might be able to prevent.

2. DNA screening could prevent different types of genetic conditions

There are measures people can take to reduce the risk for many genetic conditions. They are highly effective, especially for certain types of cancer and high cholesterol. These can be detected at an early (and more treatable) stage.

Some preventive medications can also reduce risk of breast cancer (tamoxifen), bowel cancer (aspirin), high cholesterol (statins) and genetic heart disease (beta blockers).

In some cases, preventive surgeries are available, such as mastectomy to significantly reduce breast cancer risk.



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3. DNA screening would be cost-effective

We have 18-25 years of age (about 2.6 million Australians) in Australia, focusing on young adults aged 18-25 years.

Young adults are more likely to be eligible for screening, and they are able to provide a better understanding of the conditions of pregnancy.

We are well-screened for cancer genes. We calculated screening for these genes alone would prevent 2,411 cancers and save 1,270 lives in Australia over the populaiton's lifespan, compared with current rates of DNA testing.

It's possible some people will not know if they are at heightened risk of disease.
From www.shutterstock.com

At an estimated $ 400 per test, this would cost the Australian government around $ 600 million.

But we would have screened around $ 300 million in cancer screening, making DNA screening highly cost-effective in this population.

At A $ 200 per test, you can save money, save money and save lives.



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We also modeled the impact of providing screening results for family planning. This would be a "carrier" of parents for rare genetic diseases that occur when children inherit two defective copies, one from each unaffected parent (such as cystic fibrosis).

Options like prenatal testing to identify affected pregnancies, or using IVF to ensure unaffected embryos are implanted, are available to high-risk couples. Adding reproductive information to the model further improves the cost-effectiveness.

4. DNA screening raises ethical and regulatory concerns

Despite its potential to save lives and money, DNA screening raises ethical issues. Some people may not want to be tested about DNA privacy, insurance discrimination or "right to know". The shared nature of DNA, and such issues as non-paternity may arise.

Those identified as high-risk by DNA screening may be stigmatized. Genetic Discrimination Disappeared in Australian Life Insurance, and Evidence Shows Many People at High Risk of Certain Conditions Declines Testing for This Reason.

Reproductive screening also introduces the problem of IVF and termination of pregnancy. Ethical positions vary across religious and cultural groups, and must be respected.



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Making screening routine may also be helpful in the treatment of irreversible medical interventions, such as surgery or termination of pregnancy.

As a society, we must carefully consider these ethical issues. A recently-launched nationwide study will offer reproductive carrier-screening to 10,000. This will be crucial for building public awareness and addressing these ethical issues.

5. DNA screening will be possible in the near future

As the cost of DNA testing falls, the publicly-funded population DNA screening is becoming realistic. Genetic testing for the risk of breast cancer and the risk of breast cancer are more likely to occur in the United States.

If widespread testing is not provided by the health-care system, which will not necessarily follow Australian standards for scientific validity or quality.



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Population DNA testing through the health-care system would ensure higher standards of quality control. It would also facilitate equity-of-access to testing that is required to maximize population health benefits.

The federal government has already published guidance on population screening. But before Australia can launch a universal DNA screening program, we need more public education, regulatory protection, and increased funding to expand genetic health services.

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