Wisdom Study, risk assessment and the role genetics play in breast cancer screening.
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| Lisa Madlensky, Ph.D |
The Wisdom Trial has two arms. In the randomized arm, women will be assigned to one of two groups, either a group who will receive annual mammograms or a group whose diagnostics will be determined by their personalized profile, including genetics. The second arm is an observational one, where women will continue to receive mammograms (or not) at the frequency to which they are accustomed and under their own physician’s supervision.
The Wisdom Trial seeks to broaden the understanding of the role risk factors play in the development of breast cancer coupled with the information provided by women, to then provide the individualized screening strategy. “The personalized screening arm takes advantage of all of the advances that have been made in understanding the risk factors and protective factors that each of us may have that relate to our future risk of getting breast cancer.”
Dr. Madlensky presented 4 screening strategies based on the set of risk calculations. Women who are between 40 and 49, who are low risk, might get recommended to get a mammography at 50. For women over 50, they may be told to go every 2 years. For women who have genetic tests results, have a high breast density score, or have certain combinations of risk factors, will probably be recommended to have an annual mammogram screening. For women who have positive genetic tests, who have had radiation exposure to treat other cancers, or have a high combination of risk factors, perhaps a more aggressive course of action will be suggested: a biopsy and an MRI – depending or the risk-benefit assessment of screening.
In all of the above examples, recommendations take place, not because it's the default position, but because of the information gathered and standardized risk calculations that indicate the most appropriate plan of action.
The Wisdom Study is unique because:
- It’s a pragmatic trial: looks at screening in the “real world” – getting women to do what researchers need them to do to follow up on their information is a challenge. By looking at the screening process in a “real world setting” researchers can take concrete actions to guarantee the collection of meaningful information for the study.
- It’s Dynamic: Life happens, and as it does, so the changes in risk factors – for example, aging. Whereas a woman might be considered low risk at 50, once she turns 60, her chances of getting diagnosed with breast cancer increase.
- It’s preference-tolerant: Women who have a strong preference or are averse to randomization can choose randomization or observation arms.
- It’s adaptive: As we learn more about assessing breast cancer risk, our risk assignment processes will be adjusted. Risk assignments will depend on personal information gathered throughout the trial.
Genetic testing is one of the aspects that gets the most questions in the Trial. The Wisdom Study is structured around three main genetic components that allow the creation of a comprehensive panel of genes upon which screening recommendations will be provided:
1. “Traditional” BRCA1 & BRCA2 testing will help determine the propensity for a breast cancer diagnosis. Considering that one in 400 to 800 women have a gene mutation under this classification, having it doesn’t necessarily mean a 100% risk of breast cancer. For women whose family history is unknown, who may be adopted or whose family risk of cancer might be passed down through males, BRCA 1 & BRCA2 will definitely provide a solid foundation in risk assessment and personalization.
2. Women in the Trial additionally get tested for a second set of genes that are extremely rare but are related to an elevated risk of breast cancer (TP53, PTEN, STK11, CDH1, ATM, PALB2, and CHEK2). All women found to have a significant mutation in any of the nine genes listed above will be referred for genetic counseling.
3. A unique score included in the study is the Single Nucleotide Polymorphism (SNP) score. Women have millions of them as it is a normal variation in our genomes. They are unique in the sense that they do not behave the same way in individuals who come from different backgrounds as a general genetic variability would. They are technically easy to assess.
The Study includes a panel of 200+ SNPs. This determines a “risk score”, and depending on that, women with higher scores will be recommended to get their screening mammograms more often
The additional benefit of participating in the Wisdom Trial is that, if the results of your studies show a high risk for breast cancer, you will get a call from a genetic counselor of be referred to a local genetic counseling clinic.
The WISDOM Study is the largest breast cancer screening study in California. Did you sign up?
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About the Doris A. Howell Foundation:
For the past 23 years, The Doris A. Howell Foundation for Women’s Health Research has been dedicated to keeping to women we love healthy by making a long-term, positive impact on women’s health. To date, it is the premier organization advancing women’s health.
The organization does so by funding scholarships to students researching issues affecting women’s health; providing a forum for medical experts, scientists, doctors, and researchers to convey timely information on topics relevant to women’s health, and by funding research initiatives that improve the health of under-served women and increase awareness and advocacy in the community; bringing women's health research to a full cycle. ###
Summary & Design prepared by Carolyn Northrup and revised by Carole Banka, PHD with information provided by the key note speakers.
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