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DNA Population Scale Testing could make personalized medicine effective and accessible to everyone

Estonian citizens could become considerably healthier after launching a pioneering national DNA testing program. The aim is to provide tailored treatments, preventive care and lifestyle advice, based on the work of the EU-funded project that makes personalized medicine effective and accessible to everyone.

The EU funded EPERMED has developed innovative tools and techniques to create a gene map of individuals to calculate their genetic risk of developing conditions such as heart disease, diabetes or cancer. Adaptive adaptation to the population level will allow people to accept lifestyle changes and take preventive measures to protect their health, while providing basic information to doctors to prescribe more effective treatment and save lives.

This personalized preventative approach based on individual genomic information should involve people in caring for their own health far more than traditional doctors' calls to less eat and work more. In this way, we could have a significant impact on the health of the population, improve the quality of life of citizens and reduce the cost of health care. "

EPERMED Coordinator Andres Metspalu, Head of Estonian Biobank at the University of Tartu

The Estonian government now offers free DNA tests for 150,000 people, which is more than 10% of the Estonian population. The data will be included in Estonian Biobank and analyzed on 700 000 gene mutations associated with medical conditions, and the results will be available to participants and authorized healthcare professionals. By 2019, more than 60,000 people are expected to submit samples to the biobank.

Unprecedented extensive genetic testing is now possible with a new, inexpensive approach implemented in the EPERMED project. First, a relatively small sample of the population, about 2,500 people, had the whole genome in its entirety – a complex, long-lasting and intense process.

Then much more people give DNA samples that are analyzed using a test known as the SNP series. This requires the most common types of genomic variations to provide a gene map for risk factors.


"It's a series of poor people's genes," Metspalu says. "This means that in Estonia, for each person who submits a sample to a biobank, we can isolate their DNA and genotype by SNP series – all for only EUR 50. This low price allows to cover a large part of the population – a prerequisite for providing health benefits to population scale. & # 39;

The data on genotyping and personal risk results for each person are stored in the biobanks database available to each participant, as well as to primary health care providers and specialist doctors provided they have been granted the right to be screened.

Aside from encouraging participants to adopt a healthier lifestyle or taking preventive medications based on early warning about their risk factors, the database will allow physicians to transcribe more effective medicines and therapies. It will also mark people who are likely to have side effects on certain medications, thus preventing potentially dangerous complications.

Genomic testing

Initially, data will primarily be used to identify risk factors for common conditions such as cardiovascular disease, and the initial test results are currently confirmed in a clinical trial conducted in two Estonian hospitals. Type 2 diabetes will also be tested as well as risk factors for breast cancer in women under the age of 50 who are currently not routinely tested.

There are also rare cases of EPERMED being considered. Researchers have been testing individuals for known hypercholesterolemia, a genetic disorder affecting about 0.5% of Europeans, which causes elevated levels of cholesterol but usually no symptoms.

In the genetic analysis of study participants and their family members, the EPERMED team revealed a large number of people with this condition not diagnosed with traditional techniques. These individuals now receive preventative drugs in the form of statin therapy to reduce the risk of early onset of heart disease and other complications.

Of Project Outlines emphasize the power of genomics-oriented testing as a tool to provide effective and acceptable preventive clinical care, says Metspalu. Research In addition to direct research and clinical applications, we work with industry partners to invest more in gene mapping technology and artificial intelligence tools. We have used the unique IT, legal and ethical landscape of Estonia and our highly qualified scientists to develop new approaches to drug discovery and expand healthcare innovations.

In July 2018, the University of Tartu decided to add an Estonian biocentre to the Estonian genomic center, which includes Estonian Biobank as part of its new genomics institute. In 2018, the Estonian genomic center also joined the Nordic Institute of Necessity Accuracy (NPMI), which includes Norway, Sweden, Denmark, Finland and Iceland.

"NPMI brings Scandinavia into our network," says Metspalu. Ic Nordic countries have excellent biobanks. Denmark and Finland have strong biomedical science and personal medicine initiatives, while Finland and Iceland praise strong industrial relations. This is the most logical network to join.

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