In 2001, when Kristina was just 13 years old, her mom was diagnosed with breast cancer. Her maternal grandmother had lost her battle with breast cancer a few years prior, and the family began to wonder if they had a hereditary predisposition for breast cancer.
When Kristina turned 30, she began thinking about her own breast cancer risk and decided to initiate a hereditary cancer assessment via Sweden’s public healthcare system. Kristina’s family history indicated a somewhat increased breast cancer risk but did not qualify her family for genetic testing. For a family to qualify for genetic testing certain criteria must be met, based on which cancer diagnoses have presented in the family, how many family members have had cancer, and age at diagnosis. If the criteria are met, genetic testing is offered to the family member with the earliest onset of the cancer diagnosis in question. If Kristina’s family had met the criteria, her mom would have been the first to be offered genetic testing. Had a risk variant, also called a mutation, been detected, then Kristina would have been offered carrier testing to see if she carried the same risk variant. The fact that Kristina was not initially offered genetic testing was in accordance with the care guidelines, which state that genetic testing should not initially be offered to healthy individuals. When the family members who have had cancer have passed away, don’t live in Sweden (which was the case for Kristina, whose mother lived abroad), or do not want to undergo genetic testing – the assessment comes to a halt. In Kristina’s case, the healthcare system determined that her family did not meet the criteria for genetic testing.
In the spring of 2021, Kristina’s mom fell ill again and passed away within a week. The autopsy confirmed that the breast cancer had returned in her lymph nodes, which was undetectable in the mammogram she’d had just two months earlier. Alongside her grief, Kristina again started to wonder about the potential heredity of the cancer in her family. She was additionally worried about the possibility of breast cancer that could evade mammography. Kristina turned to the healthcare system once more, both with the hopes of genetic testing and to request a breast ultrasound to complement the mammogram she’d pursued privately (out-of-pocket). She was met with the same reply as before – that she did not meet the criteria. Kristina had a hard time wrapping her head around this. How was it that she, in consideration of her family history and increased risk, was not eligible for genetic testing or extra breast screening? Kristina contacted SVT (Swedish Public Television) who helped Kristina share her story.
After sharing her story, Kristina got in touch with iCellate who was able to offer her the genetic testing she did not have access to via public healthcare. By offering testing to healthy individuals, iCellate makes genetic testing accessible for people like Kristina. Genetic testing confirmed for Kristina that she does not carry a pathogenic variant that would have indicated a highly increased risk. iCellate’s test gave her a newfound understanding of her individual cancer risk and a comfort in knowing that while her breast cancer risk is somewhat increased, it is not as high as she once had imagined. She can breathe again.
*Healthy women with more than double the average breast cancer risk (>20%) are typically offered breast cancer screening from age 40. If there are women in the family that have been diagnosed with breast cancer before age 40, screening is offered earlier. Healthy women who carry a pathogenic variant in BRCA1, BRCA2, or PALB2 have a highly increased risk for breast cancer and are offered screening from age 25. Carriers of these variants are also given the option of preventative removal of the breasts via surgery.