Estonia is set to become the first country in the world to invite citizens to screening programs based on genetic data. Starting next week, every 40-year-old woman in the country will receive an invitation for genetic testing to assess her individual risk of developing breast cancer, regardless of health insurance status. Smit said earlier screening, starting mammography at 40, would be justified for women whose risk is the same as that of women aged 50.
Until now, women have been invited to breast cancer screening after their 50th birthday. Under the new program, announced by the Estonian Health Insurance Fund and the Estonian Genome Center, each 40-year-old woman's risk will be calculated using around 3,000 genetic variants. If this risk is higher than usual, comparable to that of a 50-year-old, then including them in screening earlier is justified, said Steven Smit, head of the biobank laboratory at the Estonian Genome Center.
The study does not include BRCA gene mutations, which are linked to hereditary forms of breast cancer. These are assessed through separate tests if there has been breast cancer in the family, Smit said.
Around 10,000 women aged 40 live in Estonia. Invitations will be sent both to women who have already donated their genes to the Estonian Genome Center and to those who have not. Gene donors must first submit a declaration of consent through the Health Portal to allow their data to be used, said Krista Kruuv-Käo, head of preventive services at the Estonian Health Insurance Fund. Women not in the genome center's database will receive a referral to provide a blood sample.
Kruuv-Käo said the Health Insurance Fund does not consider it reasonable to extend the service to other serious diseases, as the state would not have the capacity to follow up. However, the fund is analyzing how genetic risk could be used in cardiovascular disease prevention.
The Estonian Genome Center currently holds data on approximately one-fifth of Estonia's population, but no new gene donors are being accepted due to a lack of funding. Smit said the genome center would be fully prepared to accept new donors but there is simply no funding available, and its general funding has been reduced in recent years.
Analysis
Why This Matters
- Estonia's program could serve as a model for other countries considering genetic screening for common diseases.
- It shifts breast cancer screening from age-based to risk-based, potentially detecting cases earlier in high-risk women.
- It raises questions about privacy, consent, and the healthcare system's capacity to follow up on genetic risk information.
Background
Estonia has a digital health infrastructure that includes a national Health Portal and a genome center holding data on roughly a fifth of the population. Breast cancer screening in Estonia, as in many countries, has typically started at age 50. The new program uses polygenic risk scores based on thousands of genetic variants to assess individual risk.
Key Perspectives
- Steven Smit (head of biobank laboratory): Supports the program, stating that if a 40-year-old's risk is equivalent to a 50-year-old's, earlier screening is justified.
- Krista Kruuv-Käo (head of preventive services): Explains the consent process and notes that while the service could be extended to other diseases, the state currently lacks follow-up capacity.
- Estonian Genome Center: Would be prepared to accept new gene donors but lacks funding to do so.
What to Watch
- Whether other countries adopt similar genetic risk-based screening programs.
- How the program is received by the public and whether participation rates are high.
- Potential expansion to cardiovascular disease prevention as mentioned by the Health Insurance Fund.
Checked
12 claims in this story checked against 1 source: 10 supported.
Show each claim
- Partly supportedEstonia is set to become the first country to invite 40-year-old women for genetic-based screening.ERR News: “Estonia is set to become the first country in the world where people are invited to screening programs based on genetic data. Next week, all 40-year-old women will receive an invitation for genetic testing”
- SupportedStarting next week, every 40-year-old woman in Estonia will be invited for genetic testing regardless of health insurance status.ERR News: “Next week, all 40-year-old women will receive an invitation for genetic testing to determine their individual breast cancer risk, regardless of whether or not they have health insurance.”
- SupportedSmit said mammography from age 40 is justified for women whose breast-cancer risk is like that of women aged 50.ERR News: “If this risk is higher than usual – if the risk for these 40-year-old women is the same as it is for other women at the age of 50 – then including these women in screening earlier is justified. Starting mammography already at the age of 40”
- Not in the sourcesThe program was announced by the Estonian Health Insurance Fund and the Estonian Genome Center.ERR News: “The Estonian Genome Center currently holds data on approximately one-fifth of Estonia's population, and no new gene donors are being accepted.”
- SupportedThe risk calculation takes around 3,000 genetic variants into account.ERR News: “Around 3,000 genetic variants are taken into account when calculating the risk.”
- SupportedThe study does not include BRCA mutations, which are linked to hereditary breast cancer, and those mutations can be assessed through separate tests when there is breast cancer in the family.ERR News: “However, the study does not include BRCA gene mutations, which led actress Angelina Jolie to decide to have her breasts removed 13 years ago to prevent developing the disease. "These are hereditary forms of cancer, which are assessed through separate tests as needed if there has been breast cancer in the family," Smit said.”
- SupportedThere are around 10,000 women aged 40 in Estonia.ERR News: “There are almost 10,000 40-year-old women in Estonia”
- SupportedInvitations will go to women who have donated their genes to the Genome Center and to women who have not.ERR News: “invitations will be sent both to those who have already donated their genes to the Estonian Genome Center and to those who have not.”
- SupportedGene donors must submit a consent declaration through the Health Portal before their data can be used.ERR News: “The first step is still to go to the Health Portal and submit a declaration of consent there so that the data can be used in the healthcare system”
- SupportedWomen whose data is not in the Genome Center will receive a referral to provide a blood sample.ERR News: “The same declaration of consent must also be completed by women whose data is not in the Estonian Genome Center. They will receive a referral to a laboratory to provide a blood sample.”
- SupportedThe Health Insurance Fund does not consider it reasonable to extend the service to other serious diseases because the state could not follow up on them.ERR News: “It is also possible to put this service in place for other serious diseases, but the Health Insurance Fund does not consider this reasonable, as the state would not have the capacity to follow up on them.”
- SupportedNo new gene donors are being accepted because funding is unavailable.ERR News: “Currently, the Estonian Genome Center holds data on approximately one-fifth of Estonia's population, and no new gene donors are being accepted. "The Genome Center would certainly be fully prepared for this, but at the moment there is simply no funding available for it."”
