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Press release Published on 21.5.2024, 13:52

Biobank research benefits preventive healthcare

  • biobank
  • genetic research
  • breast cancer

Finland's hospital-based biobanks have built an operating practice according to which information obtained from biobank samples on the genetic risk of illness affecting the health of the sample provider can be used in healthcare.

Kaksi henkilöä

Researchers Olli Carpén and Minja Pehrsson involved in the GenomiTerveys project. Photo: Hanna Raijas-Turva / HUS

Approximately one in ten breast cancers is hereditary. It is estimated that up to 70% of women with BRCA1 and BRCA2 gene defects will develop breast cancer during their lives. The PALB2 gene defect is more common among Finns than other population groups. Approximately 50 per cent of women with the PALB2 gene defect get breast cancer. People with the BRCA1 and BRCA2 gene defects are also predisposed to ovarian cancer and prostate cancer. 

In addition to genetic factors, environmental factors and lifestyle have an effect on the risk of developing cancer. 

"We know that the earlier cancer is found, the better the chances of recovering from it. Information obtained from biobank samples on whether the donor carries a gene that predisposes them to cancer in their genome will allow enhanced monitoring and preventive measures to be undertaken. For this reason, this data is valuable for both the sample donor and healthcare providers," says Professor Olli Carpén, HUS Head Physician and Scientific Director of Helsinki Biobank.

A uniform operating practice covering the entire country

In the national GenomiTerveys project, hospital-based biobanks wanted to find out whether genetic data returned to biobanks from research studies can be utilized in healthcare, whether such activities are cost-effective and whether findings made from biobank samples are relevant to the donors' health and the donor is not aware of them. The aim was also to determine whether those who gave a biobank sample would like to receive genetic results. 

"We built a scalable operating practice in Finland's hospital-based biobanks for communicating genetic data from studies to donors," says Project Manager Minja Pehrsson, a Clinical Laboratory Geneticist. Clinical genetics units in hospitals were also important partners.

During the GenomiTerveys project, the biobank sent a letter to those sample donors who had stated in their biobank consent that they wanted to receive information found from the sample that was relevant to their health. The letter states that a person's biobank sample has been included in a study in which genetic information has been produced from the sample, from which it is then possible to determine the risk of certain diseases. 

If the sample donor wants more information, they will be directed to the MyBiobank portal, which provides information on the genes being researched and the risk of illness caused by them. 

"It is important to ensure that the sample donor makes a conscious decision to receive genetic results. After reviewing written material, the person may, if they so wish, authorize the study of those genes and for the results to be provided to them. Information is only provided to those donors who have given their consent to receiving genetic results," Pehrsson explains.

Genetic counseling and enhanced monitoring

When a genetic mutation that poses a high risk of cancer is detected in a person's biobank sample, a telephone appointment is reserved for them during which they receive the results. At the Helsinki Biobank, the results are communicated to the sample provider by healthcare professionals who are trained in genetic counseling. 

In the HUS area, the sample donor is referred to the Clinical Genetics Unit, where the gene defect detected from the biobank sample will be confirmed from a new sample. Once the result is available, the person receives genetic counseling, and they are referred to enhanced monitoring and treatment in accordance with HUS’s normal practice.

GenomiTerveys project produces new information

"The analysis and study of biobank samples is of clear benefit to healthcare. The sample donors who wanted the results, have also viewed obtaining information in a positive light, and the majority of biobank sample donors even assume that they will be contacted if the sample reveals information that is significant to their health," says Pehrsson.

The study found that healthcare providers were not aware of up to two-thirds of those with a gene defect that results in a high risk of cancer, and the persons were also unaware that they were at risk.

"By utilizing the genome data produced from biobank samples, we can refer these persons to enhanced monitoring and preventive measures. This is a step towards individualized medicine," Carpén says.


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