The standard advice for breast cancer screening has been simple and uniform: start your annual mammograms at age 40. But what if the future of screening isn’t one-size-fits-all, but deeply personal, guided by your own unique risk profile?
Results from a major study, the WISDOM study, show that the one-size-fits-all approach is increasingly outdated.
“I am excited about a future where genetic information becomes the foundation of personalized health,” says Dr. Noura Abul-Husn, 23andMe Research Institute VP of Genomic Health and Chief Medical Officer. “Since the start, the 23andMe Research Institute has been focused on helping our members benefit from genetics-informed prevention and care.”
The WISDOM study, led by UCSF researchers and published in JAMA (The Journal of the American Medical Association), explored this very question. Following 28,000 women, the researchers randomized participants into two groups: one receiving traditional annual screening, and the other receiving screening tailored to their personalized risk.
The personalized risk group was divided into four levels. For the lowest-risk women, breast cancer screening was not recommended until age 50. For the highest-risk women, screening was often accelerated to twice a year and included an MRI, regardless of age.
The powerful finding? This personalized approach, including waiting until age 50 for mammograms for the lowest-risk group, did not result in more late-stage cancer diagnoses compared to the annual screening group. This suggests that tailoring screening to individual risk is a safe and potentially more efficient path forward.
Your Risk, Your Genes: Why Family History Isn’t Enough
The WISDOM study provided compelling evidence for the value of genetics. Researchers included genetic testing for all women in the personalized risk group. In a second crucial finding, they discovered that approximately 30% of women in the study who carried genetic variants that increased their risk had NO family history of breast or ovarian cancer.
This reinforces what other studies (1,2) have shown to be a critical gap in existing guidelines, which often rely heavily on family history or ancestry to determine who qualifies for extra screening. Without access to their genetic information, these women would have been overlooked, potentially delaying a necessary conversation about earlier or more intensive screening.
Single Genes vs. Polygenic Risk: The Complete Picture
Breast cancer is not one disease, and risk is not determined by one factor. At 23andMe, we know that truly understanding individual risk requires looking at genetics in different ways:
- Single-Gene Risk: These are high-impact variants in genes like BRCA1 and BRCA2 that can significantly increase risk. They are rare but powerful indicators, often associated with hereditary cancer syndromes.
- Polygenic Risk Scores (PRS): These scores look across many genetic variants throughout the genome, measuring how the usually small genetic effect of many variants add up to impact your overall risk. No single variant has a major effect, but the cumulative effect can be highly informative.
Both are important. High-impact genetic variants tell you about a strong, specific hereditary risk, while PRS provides a broader measure of your general genetic predisposition. A comprehensive view, incorporating both, gives you the most complete picture of your inherited risk.
How 23andMe Can Help Inform Your Decisions
Having access to this genetic information is the first step in creating a more informed starting point for conversations with your doctor about screening and prevention.
At the 23andMe Research Institute, we are committed to making personalized health information accessible:
- FDA-Authorized Reports on High-Impact Variants: Our health services include the only FDA-authorized direct-to-consumer test that screens for select high-impact variants in the BRCA1 and BRCA2 genes.
- Polygenic Risk Scores (PRS): For 23andMe+ Premium™ members, we offer a Breast Cancer PRS Report that looks across the genome to evaluate risk.
- Comprehensive Screening: Our most comprehensive genetic test, the 23andMe Total Health™ service includes exome sequencing to identify additional high-impact genetic variants that may impact health.
Genetic information is a powerful tool that can help guide decision making. The WISDOM study reinforces the message that personalized screening is the way forward. By bringing your risk profile, including your genetics, to a healthcare professional, you can have a tailored discussion about the screening frequency, age of initiation, and supplemental monitoring (such as ultrasound or MRI) that is right for you and your personalized breast cancer risk.
The future of cancer screening is increasingly personal, and your DNA should be an essential part of that story.
References
- Manickam K, Buchanan AH, Schwartz MLB, et al. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Netw Open. 2018;1(5):e182140. Published 2018 Sep 7. doi:10.1001/jamanetworkopen.2018.2140
- Llorin H, Tennen R, Laskey S, Zhan J, Detweiler S, Abul-Husn NS. Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry. Genet Med Open. 2024;2:101869. Published 2024 Jul 16. doi:10.1016/j.gimo.2024.101869
