.png)
Why does preventive medicine continue to capture the attention of researchers and practitioners across the medical landscape? The answer lies in a fundamental shift in how we conceptualize healthcare delivery—moving from reactive treatment models to proactive intervention strategies that identify and address health risks before they manifest as disease. The following summaries highlight three distinct yet interconnected advances in preventive care that emerged during the fall of 2025, each representing a different dimension of how modern medicine is reimagining disease prevention through genetic screening, immunotherapy, and population health surveillance.
This article provides commentary and educational interpretation of publicly available research and news sources. Original sources are linked in the header for each commentary segment and links are also available in the reference section.
When we consider the landscape of cardiovascular disease prevention, familial hypercholesterolemia (FH) represents what I would characterize as a "silent epidemic"—a highly treatable genetic condition affecting approximately 1 in 200 to 250 individuals worldwide, yet remaining undetected in the vast majority of those who carry it. Published in Circulation: Genomic and Precision Medicine in November 2025, Dr. Niloy Jewel Samadder's research through Mayo Clinic's Tapestry DNA study exposes a critical blind spot in current screening guidelines. This matters to practitioners because cardiovascular disease remains the leading cause of death in the United States, and FH causes dangerously elevated low-density lipoprotein cholesterol from birth, significantly increasing the risk of premature heart attacks and strokes. The study's findings suggest that our current approach to identifying at-risk individuals—which relies primarily on cholesterol levels and family history—misses nearly 90% of those with the condition.
The research team analyzed exome sequencing data from more than 84,000 participants across Mayo Clinic sites in Arizona, Florida, and Minnesota. Exome sequencing reads the protein-coding regions of the genome where most disease-causing variants reside, offering a comprehensive view of an individual's genetic risk profile. Of the 419 individuals identified with pathogenic variants causing familial hypercholesterolemia, approximately 75% would not have met current clinical criteria for genetic testing based on their cholesterol levels or family history alone. This represents a substantial missed opportunity for early intervention, particularly when we consider that roughly 1 in 5 of these undiagnosed individuals had already developed coronary artery disease by the time they were identified through the research study.
What makes this finding particularly significant from a clinical standpoint is the highly treatable nature of familial hypercholesterolemia. Unlike many genetic conditions where therapeutic options remain limited, FH responds well to statin therapy and other cholesterol-lowering interventions when identified early. The condition passes silently through families for generations precisely because current screening approaches wait for overt clinical manifestations—elevated cholesterol levels or documented family history—rather than proactively identifying genetic carriers. From a practitioner's perspective, this creates a paradox: we possess effective treatments and diagnostic tools, yet the majority of affected individuals remain undiagnosed until cardiovascular events occur.
The study forms part of Mayo Clinic's Precure strategic priority, an institutional commitment to predict and prevent serious diseases before they advance through population-based genomic studies and innovative screening technologies. Dr. Samadder notes that the findings "expose a blind spot in current national guidelines," suggesting that if we can identify those at risk of cardiovascular disease earlier, we can initiate treatment sooner and fundamentally alter disease trajectories. In my view, this research challenges us to reconsider how we define "high risk" in clinical practice—moving beyond phenotypic indicators to incorporate genomic information that reveals vulnerability before it manifests clinically.
The implications of this research extend beyond familial hypercholesterolemia to broader questions about how we integrate genomics into routine preventive care. When nearly 90% of individuals with a common, treatable genetic condition remain undiagnosed under current guidelines, I find this particularly relevant because it suggests our screening paradigm may be fundamentally misaligned with the biological reality of inherited disease. The study demonstrates that population-based genetic screening can identify at-risk individuals who would otherwise remain invisible to conventional clinical assessment, potentially preventing heart attacks and strokes in thousands of people currently unaware they carry this genetic vulnerability.
For clinical practice: Consider advocating for expanded genetic testing protocols that move beyond current cholesterol-based and family history-based criteria. When evaluating patients for cardiovascular risk, recognize that normal or moderately elevated cholesterol levels do not rule out familial hypercholesterolemia—genetic testing may identify individuals who would benefit from earlier and more aggressive lipid-lowering therapy.
For patient counseling: Educate patients about the limitations of traditional risk assessment and the potential value of genetic screening, particularly in individuals with personal or family history of premature cardiovascular disease. Explain that familial hypercholesterolemia is highly treatable when identified, but often goes unrecognized because it can present with cholesterol levels that appear only moderately elevated.
For health systems: Support initiatives that integrate genetic screening into preventive care workflows. The Mayo Clinic model demonstrates that large-scale genomic studies can identify at-risk populations systematically rather than waiting for clinical red flags. Consider how exome or whole genome sequencing might be incorporated into population health management strategies, particularly for conditions like FH where early intervention dramatically improves outcomes.
For cascade screening: When FH is identified in one individual, implement family-based testing protocols. Because this is an autosomal dominant condition, first-degree relatives have a 50% chance of carrying the same pathogenic variant, making targeted family screening highly efficient for case identification.
The concept of cancer prevention through vaccination represents a paradigm shift in oncology—training the immune system to recognize and destroy malignant cells before they establish clinically detectable disease. In December 2025, Cleveland Clinic researchers presented final Phase 1 data from their investigational vaccine targeting triple-negative breast cancer, the most aggressive and lethal form of breast cancer, at the San Antonio Breast Cancer Symposium. Triple-negative breast cancer lacks the hormonal receptors and HER2 protein that typically respond to targeted therapies, leaving chemotherapy as the primary treatment option and contributing to disproportionately high mortality rates despite representing only 10-15% of breast cancer cases. This vaccine, based on decades of research by the late Dr. Vincent Tuohy, targets α-lactalbumin, a lactation protein absent in normal aging breast tissue but present in most triple-negative breast cancers, effectively teaching the immune system to recognize this molecular signature as a threat.
The Phase 1 trial, conducted in partnership with Anixa Biosciences and funded by the U.S. Department of Defense, enrolled 35 patients across three distinct cohorts, each representing a different preventive care scenario. Phase 1a included 26 patients who had completed treatment for early-stage triple-negative breast cancer within the past three years and remained tumor-free but faced high recurrence risk. Phase 1b enrolled four cancer-free individuals carrying genetic mutations associated with elevated breast cancer risk who elected prophylactic mastectomy. Phase 1c involved five patients with early-stage triple-negative breast cancer who received pre-operative chemoimmunotherapy and surgery with pembrolizumab but had residual cancer in breast tissue, placing them at substantial recurrence risk. This thoughtful cohort design allows researchers to evaluate vaccine efficacy across the spectrum of prevention—from primary prevention in high-risk individuals to tertiary prevention in those with residual disease.
The primary findings demonstrate that the investigational vaccine produced immune responses in 74% of participants across all three cohorts—a response rate that Dr. G. Thomas Budd, the study's principal investigator, characterizes as "promising." The vaccine proved safe and well-tolerated, with side effects primarily consisting of mild skin inflammation at injection sites, typical of immune-activating vaccines. Researchers successfully determined the maximum tolerated dose, a critical milestone that will inform dosing protocols in the Phase 2 efficacy trial planned for late 2026. The mechanism underlying this approach—stimulating immune surveillance against α-lactalbumin—builds on Dr. Tuohy's preclinical research published in Nature Medicine, which demonstrated that activating immunity against this protein safely and effectively prevented breast tumors in mouse models.
How might a practitioner interpret these results in the context of breast cancer prevention? The vaccine's design exploits a fundamental principle of tumor immunology: cancer cells often express proteins that normal tissues do not, creating potential targets for immune recognition. α-Lactalbumin represents an ideal target because it appears in lactating breast tissue but disappears after lactation ceases in healthy, aging breasts, yet reemerges in triple-negative breast cancers. This specificity theoretically allows the immune system to distinguish malignant cells from healthy tissue. The 74% immune response rate suggests that the majority of participants' immune systems successfully recognized the target antigen, though whether this translates to clinical protection against tumor development remains the central question for Phase 2 trials.
When practitioners navigate cancer prevention strategies, the challenge often lies in balancing intervention benefits against potential harms in asymptomatic high-risk individuals. What distinguishes this vaccine approach from more invasive preventive measures like prophylactic mastectomy is its potential to offer protection with minimal adverse effects. The collaborative effort that brought this vaccine from preclinical concept to human trials—funded by over 20,000 philanthropic donors over 13 years—demonstrates how community investment in biomedical research can advance prevention strategies that may eventually extend beyond breast cancer to other malignancies. I find this particularly relevant because triple-negative breast cancer disproportionately affects Black women and accounts for 70-80% of tumors in BRCA1 mutation carriers, populations that would derive substantial benefit from effective prevention strategies.
For patient counseling: When discussing breast cancer prevention with high-risk patients—particularly those with BRCA1 mutations, strong family histories, or previous triple-negative breast cancer diagnoses—provide context about emerging preventive immunotherapy approaches. While this vaccine remains investigational and efficacy data is pending, understanding that cancer prevention through vaccination is moving from theoretical concept to clinical reality may inform long-term prevention planning.
For monitoring research developments: Follow the Phase 2 trial results when they come out, which will evaluate whether immune responses translate to reduced cancer incidence or recurrence. The trial design—comparing vaccinated high-risk individuals to controls—will provide the first human data on whether immune activation against α-lactalbumin prevents triple-negative breast cancer development.
For high-risk populations: Recognize that patients with residual disease after neoadjuvant chemotherapy (Phase 1c cohort) and those who have completed treatment but remain at high recurrence risk (Phase 1a cohort) may be eligible for future trials. Maintaining awareness of enrollment opportunities allows practitioners to connect appropriate patients with cutting-edge prevention research.
For translational perspective: Consider how this proof-of-concept—targeting tumor-associated proteins to generate protective immunity—might eventually apply to other cancers. Dr. Tuohy's vision that this approach could extend to other malignancies suggests that successful demonstration of efficacy in breast cancer could catalyze similar vaccine development for cancers expressing tissue-specific antigens.
For ethnic and genetic disparities: Prioritize prevention research participation and education in Black women and BRCA1 carriers, populations that bear disproportionate triple-negative breast cancer burden and would derive greatest benefit from effective preventive interventions.
The Centers for Disease Control and Prevention's updated preventive care guidance, published in August 2025, synthesizes evidence-based recommendations into an accessible framework for both practitioners and the public. While chronic diseases affect nearly 130 million Americans and account for 90% of the nation's $4.5 trillion healthcare expenditure, many of these conditions are preventable or manageable when identified early through systematic screening and preventive services. This comprehensive CDC resource addresses a fundamental question in population health: how do we translate what we know about disease prevention—from cancer screenings to vaccination schedules to family health history assessment—into actionable protocols that reach people before diseases become entrenched? The guidance matters to practitioners because it consolidates evolving recommendations on screening intervals, vaccination schedules, and risk assessment tools that form the foundation of longitudinal primary care relationships.
The CDC framework organizes preventive care around several core domains, beginning with regular medical and dental checkups that extend beyond acute illness management to encompass screening tests, preventive services like vaccinations, and patient education. In terms of practical application, this means distinguishing routine preventive visits—which focus on identifying diseases early when they remain most treatable—from symptomatic visits addressing specific health concerns. The guidance emphasizes cancer screenings with specific recommendations for breast, cervical, colorectal, and lung cancers, each with evidence-based age cutoffs and screening intervals. For breast cancer, screening can find disease early when treatment is most effective, with the U.S. Preventive Services Task Force now recommending mammography every two years for women aged 40-74. Cervical cancer screening combines Pap tests to detect abnormal cells and HPV tests to identify the virus that causes cell changes, creating a complementary surveillance approach.
What distinguishes this updated guidance is its integration of family health history as a systematic risk assessment tool rather than an informal consideration. The CDC provides My Family Health Portrait, a structured documentation system for recording diseases and health conditions across family members, capturing genetic susceptibility, shared environmental exposures, and behavioral patterns that collectively influence disease risk. When considering these findings from a clinical perspective, family history becomes actionable data—if you document cancer, heart disease, diabetes, or osteoporosis in close relatives, you're identifying elevated personal risk that justifies more aggressive preventive measures. The guidance notes that individuals with family histories of chronic disease have "the most to gain" from lifestyle modifications and preventive care practices, transforming vague awareness of familial patterns into specific intervention opportunities.
The vaccination recommendations reflect evolving evidence on immune protection across the lifespan, addressing a common misconception that immunization primarily concerns childhood. The CDC emphasizes that adult vaccination remains essential because childhood immunity wanes and age-associated disease risks change, making boosters and new vaccines (particularly COVID-19 and annual influenza vaccinations) critical components of adult preventive care. The guidance specifies that COVID-19 vaccination reduces severe illness, hospitalization, and death risk, particularly in individuals with underlying conditions like heart disease, lung disease, diabetes, and obesity—populations disproportionately affected by severe outcomes. For influenza, the recommendation extends to everyone six months and older, with particular emphasis on high-risk groups.
The CDC's consolidation of preventive care recommendations serves what I would describe as both a clinical and public health function—providing practitioners with evidence-based protocols while simultaneously educating patients about screenings and interventions they should proactively seek. In my view, practitioners should consider these guidelines not as rigid mandates but as starting points for risk-stratified preventive care planning. The document's accessibility—designed for public consumption rather than exclusively for clinical audiences—reflects an important recognition that engaged, informed patients who understand preventive care rationale are more likely to complete recommended screenings and maintain vaccination schedules. What we're seeing here is a translation tool that converts complex epidemiological evidence into practical guidance that shapes both clinical workflows and patient self-advocacy.
For systematic preventive care planning: Use the CDC framework as a checklist for comprehensive preventive care delivery, ensuring that patients receive age-appropriate cancer screenings, updated vaccinations, and family history assessments at regular intervals. This prevents the common scenario where acute care visits crowd out preventive services, leaving screening gaps that allow preventable diseases to progress undetected.
For patient education materials: Direct patients to the CDC's My Family Health Portrait tool (available at familyhistory.hhs.gov) to systematically document family health information before visits. When patients arrive with structured family history data, conversations shift from gathering basic information to interpreting patterns and developing risk-reduction strategies. Update this information regularly as family members receive new diagnoses or as patients' own health status changes.
For risk stratification: Apply family history data to individualize screening intensity and frequency. Patients with documented family histories of colorectal cancer, for example, may warrant earlier and more frequent colonoscopy than standard guidelines suggest. Those with strong cardiovascular disease patterns may benefit from more aggressive lipid management and earlier cardiac imaging. The guidance reminds us that while genetic susceptibility cannot be modified, behavioral risk factors—smoking, nutrition, physical activity, alcohol consumption—remain highly modifiable intervention targets.
For vaccination counseling: Address the persistent gap in adult vaccination rates by explaining that immunity is not permanent and that new vaccines targeting age-associated diseases become necessary across the lifespan. When patients resist COVID-19 or influenza vaccination, emphasize that individuals with chronic conditions face substantially higher severe illness risk, making these interventions particularly valuable for the populations they serve. Document vaccination history systematically to identify gaps and provide catch-up schedules.
For cancer screening navigation: Implement reminder systems for age-appropriate cancer screenings, recognizing that cervical, breast, colorectal, and lung cancer screening recommendations each have specific eligibility criteria, screening intervals, and modalities. For lung cancer screening, the refined criteria—ages 50-80, heavy smoking history, current or recent (within 15 years) smoking status—require systematic identification of eligible individuals who may not spontaneously request screening.
For addressing screening disparities: Recognize that preventive care utilization varies substantially by socioeconomic status, race, ethnicity, and geographic location. Proactively offer screening to underserved populations who may face access barriers, and connect patients with community resources and patient navigation services that reduce logistical obstacles to preventive care completion.
While these three articles are by no means fully representative of all the advancements in preventative care from this year (or even the last few months) they do represent some interesting areas for those interested in learning more about emerging preventative healthcare.
If you are a physician looking to improve patient health literacy, you may be interested in how our comprehensive health and wellness course can help.
Centers for Disease Control and Prevention. (2025, August 15). Are you up to date on your preventive care? https://www.cdc.gov/chronic-disease/prevention/preventive-care.html
Cleveland Clinic. (2025, December 17). Breast cancer vaccine trials show promise. INbox. https://my.clevelandclinic.org/giving/about/publications/dec-17-2025
Mayo Clinic. (2025, November 18). Most people with a genetic condition that causes significantly high cholesterol go undiagnosed, Mayo Clinic study finds [Press release]. https://newsnetwork.mayoclinic.org/discussion/most-people-with-a-genetic-condition-that-causes-significantly-high-cholesterol-go-undiagnosed-mayo-clinic-study-finds/
