In a statement, Tamara Milagre, president of Evita, highlighted a “significant barrier” in accessing genetic counseling and testing, citing a lack of genetic literacy among healthcare professionals not specialized in medical oncology or human genetics.
She noted that family doctors, the professionals closest to patients, often do not fully recognize familial patterns despite having access to patients’ medical histories.
“Sometimes, for instance, breast cancer might be linked to stomach cancer, or pancreatic cancer could relate to a relative’s prostate cancer. These are complex patterns, and we strive to facilitate their identification and conduct an initial screening for those who could benefit from genetic counseling,” she explained.
On the Evita Platform, users can fill out a 10-question survey based on national recommendations by the Hereditary Cancer Task Force of the Portuguese Oncology Society, covering any hereditary cancer syndrome.
“These are general questions, such as whether a person in your family has had more than one primary cancer,” she explained, specifically citing a scenario where a family member had both breast cancer and later ovarian cancer.
If a user answers yes to any of the 10 questions, Evita advises seeking genetic counseling, which is intended to be offered through the platform in the future “in a safe space, using an integrated tool for telemedicine video calls with our geneticist.”
Another service the Evita Platform aims to offer in the future via telemedicine is psychological counseling, which “goes hand in hand with cancer risk or diagnosis.”
“Regardless of any future pandemics, individuals will no longer be left isolated, as seen in 2020,” she added.
A proposal for these teleconsultation services has already been put forward to the Ministry of Health to integrate them with the National Health Service (SNS).
“The SNS now has a unique, ready and paid tool at its disposal. It’s just a matter of utilizing it to enhance response, which is currently very weak in our system,” stated Tamara Milagre, adding: “It would not be wise to overlook this tool that can improve response and help prevent early-age diagnoses.”
The platform already has 3,215 users, of whom 2,310 have taken the test. Of these, 1,872 (81%) were at high risk.
“This demonstrates that people want to know,” said Milagre, pointing out that Evita has successfully referred hundreds of individuals who, without this intervention, might have gone unnoticed by the system until symptoms appeared.
Tamara Milagre emphasized that hereditary cancer “is the most costly of all”: “It emerges at the peak of productivity, during fertile age, and we let these people become ill, often with late diagnoses because, without awareness of their genetic predisposition, individuals might not recognize the importance of symptoms.”
She clarified that currently, individuals who test and find a high cancer risk on the platform are advised to discuss the results with their family doctor. “This way, the person can have an idea about whether they would benefit from genetic counseling. Only the doctor can diagnose,” she stressed.
The latest data from Globocan, provided by the International Agency for Research on Cancer (IARC), show that there are 70,000 cancer cases in Portugal annually, 7,000 of which are hereditary. This corresponds to 19 individuals identified each day with hereditary cancer.
