Myriad’s riskScore test for breast cancer risk adds a second layer of precision in breast cancer testing and diagnosis
Less than 10 % of women undergoing genetic testing for breast cancer test positive for any of all the 11 genes known to directly impact breast cancer risk. Myriad’s new riskScore assessment test looks at the balance 90 %.
Myriad’s new risk Score genetic test is designed to quantify a woman’s five-year and lifelong risk of developing breast cancer. In practice it is a follow up test.
The risk Score test is indicated for women with a family history of breast cancer that don’t carry mutations in any of the key genes, like BRCA1/2. Instead, it looks at 80 point mutations (SNPs) that have a bearing on risk of developing breast cancer.
To understand the product’s price, image this scenario:
A woman in her late 30’s schedules a rendezvous along with her obstetrician/gynecologist. She has a strong family history on both paternal and maternal side. Many of her aunts and grandma all developed breast cancer in their 60s and 70s. She is worried that there is a genetic component and work and wants to mitigate risk for herself. The standard course of action is to order a gene panel test, whether or not the patient features a mutation in one in all eleven genes known to directly impact breast cancer.
However, for better or worse, the patient tests negative for all of them. She goes home with no answers.
Johnathan Lancaster, chief medic of Myriad genetic science, has seen this play out repeatedly before him as a active ob/gyn doctor. This is where riskScore helps.
The test dives deeper into supposed ‘polygenic’ traits; multiple genetic variants which are able to increase risk due to various mutations or life style factors. For this reason, the results are combined with the well-established Tyrer-Cuzick model, that takes into account person-specific variables (such as HRT or hormone replacement therapy).
Being able to exactly quantify a person’s five-year and lifelong risk of developing breast cancer and other cancers is beneficial in many ways that.
The apparent benefit is for patients at high risk.
In the U.S., breast cancer is that the second most diagnosed cancer and the second leading reason for cancer death in ladies. Early detection is essential.
If the risk of developing breast cancer is > than 20% an MRI along with an annual mammogram helps increase sensitivity to detection. Screening for such patients can also be more intensive than low risk patients.
The potential advantages of knowing a patient is at a lower risk are huge.
“There’s the cost-saving, the surplus medical interventions which do not need to be administered, the suitable utilization of care resources at a population level. At an individual level, there may be lesser management based on risk profile, lower anxiety levels, lesser emotional trauma.
Many women endure weeks of hysteria around each diagnostic technique examination, aware that this might be the year that clinicians may diagnose a cancerous growth.
Tests like riskScore are indicative of genetics, evolving from finding out single mutations that severally increase illness risk, to a lot of nuanced reading of the many genetic variables that mix in an personalized method.
The catch here is that riskScore is currently based on data from Caucasian population and has little to offer to Asian, African and Hispanic population. This leaves a large chunk of nonwhite population without the additional benefit of having a precision test for breast cancer.
Cancers with a robust hereditary element, prostate cancer, ovarian cancer, pancreatic cancer are probably be next on the list.
Myriad presently sells a genetic test for colon cancer.
The bane of genetic testing still remains, that most of the genetic tests remain under utilized.
Meanwhile, the Caucasian population with family history of breast cancer, can order Myriad’s existing my Risk Hereditary Cancer test; a 28-gene panel that identifies patients with an elevated risk for eight hereditary cancers. If patients test negative for the 11 genes known to increase risk, Myriad will follow-up with the risk Score assessment free of charge, with the initial sample. To grasp every woman’s personal risk, the results can then be paired with the Tyrer-Cuzick model.
For breast cancer, early detection and diagnosis remain critical.