The Science of Hereditary Cancer has been Transformational. Delivery Needs to Catch Up

by Sue Friedman, DVM

I was just 33 when I was diagnosed with “very early” breast cancer in 1996. I was unaware of familial risk factors for the disease, and my care team never suggested that I might be high risk. The year following my initial treatment, I came across an article on hereditary breast cancer and realized that I did, in fact, have several red flags for an inherited mutation. I proactively pursued genetic testing, which revealed the BRCA2 mutation that caused my young-onset breast cancer. If I had known about my mutation, my treatment decisions would have been different, potentially sparing me the long-term effects of chemotherapy and radiation when cancer recurred in my lymph nodes.  

When I was diagnosed, young patients with an inherited mutation had almost no reliable information and support. Cancer genetic testing was in its infancy, and few long-term studies existed to inform my decisions. Today’s care is dramatically different. Yet too many people are still in the same position I was in 30 years ago: unaware of their inherited cancer risk, thereby missing life-changing opportunities for prevention, early detection, and targeted treatment.

We must do better. Prioritizing genetics-based care is essential to close the gap between scientific progress and delivery.

The knowledge gap

As a 30-year survivor of recurrent hereditary breast cancer, I know how fortunate I am. But as someone now living with a rare and aggressive thyroid cancer caused by the radiotherapy used to treat my breast cancer recurrence, I am also facing the secondary health consequences of that original diagnosis. Current genetics services can help others avoid repeating my experience. Guideline-recommended screening and prevention can help prevent hereditary cancers or detect them earlier, when they are more likely to be cured. Earlier detection often means less intensive treatment and a lower risk of long-term health consequences.

I started FORCE (Facing Our Risk of Cancer Empowered) in 1999 because I wanted others to have access to the resources and support I didn’t have when I was diagnosed. But all these years later, I continue to see our community members miss their window for prevention. Too often, people say they learned about hereditary cancer or genetic testing only after they or a family member were diagnosed with advanced-stage cancer. Awareness appears to vary by hereditary cancer condition: BRCA-associated risk is more widely recognized, while Lynch syndrome remains under-recognized despite its association with a high risk for colorectal, endometrial, and other cancers. Yet, as many as one in 280 people has a Lynch syndrome-related mutation.

Lost in translation

The discovery of BRCA1 and BRCA2 in the 1990s transformed our understanding of inherited cancer risk, and today’s genetic services can scan dozens of cancer-related genes at once. Yet these advances still have not fully translated into routine care. Cancer genetic testing remains underutilized, and experts estimate that up to 75% of people with a hereditary cancer mutation remain unidentified. The science has advanced, but the delivery system has not kept pace.

Access gaps are compounded by a stretched genetics workforce, especially outside major cities. Most primary care clinicians receive limited training in cancer genetics, and referrals to genetic counseling vary widely. Treating genetics as a routine part of care—with practical workflows and referral pathways—could help close these gaps.

For patients, common barriers include fear, misinformation, and limited access to care. Genetic counselors are often involved at testing and results disclosure, but many patients need support for years afterward with surveillance fatigue, family communication, and the emotional weight of ongoing screening. Asking genetics and oncology teams to absorb this long-term work is not sustainable. One promising model is training and embedding social workers in cancer genetics programs to provide ongoing support, backed by a real workforce pipeline.

Community-based programs, including FORCE’s peer support groups and Peer Navigation Program, help address some of these needs. In participant surveys, more than two-thirds of users reported feeling less anxious, more informed and confident, more supported, and less alone. But community support cannot replace a healthcare system that makes genetic services accessible and consistently offers them to everyone who can benefit.

What should be done?

These are complex challenges, but we have many of the tools and insights needed to solve them. The full healthcare ecosystem must work together to deliver on the promise of genetic discovery.

• Make genetics a routine part of care. Implement practical interventions to proactively identify eligible patients and connect them with counseling and testing based on established guidelines, not only when patients ask. Training matters, but it also takes time, tools, and referral pathways to integrate genetics into practice workflows. Health systems should set genetics-care benchmarks, using metrics that reflect improvements in risk assessment, counseling referrals, and testing.
• Put what we know into practice…together. Researchers, clinicians, health systems, community and advocacy organizations, and other stakeholders should work together from the start to implement and disseminate patient-centered approaches that already show promise. Often, the organizations closest to patients and communities are the last invited to the table, even though their insights are essential to reducing anxiety, building trust, and helping people act on results.
• Advance policies that expand access and use. Policy changes are needed to make genetic services accessible and routinely integrated into clinical care. Policymakers need to be educated on hereditary cancer genetics, patient needs, and real-world barriers so that policies are informed, effective, and equitable. This includes reducing insurance and cost barriers and supporting coverage for genetic counseling, testing, and risk-management options.
• Support people through and beyond testing, prevention, diagnosis and treatment. People and families affected by hereditary cancer need clear information, emotional support, help navigating costs and insurance, and guidance through screening, prevention, treatment, family planning, and communicating with relatives. Support should apply across the care continuum and address the long-term consequences that can arise from treatment or prevention interventions, such as premature menopause, mental health issues, loss of fertility, secondary cancers, chronic conditions such as heart disease, and other quality-of-life concerns

Thirty years ago, I had to find my way to genetic testing on my own. No one facing hereditary cancer risk today should have to do the same. As we mark National Hereditary Cancer Awareness Week, we have an opportunity to make sure more people understand their inherited cancer risk and can benefit from the extraordinary scientific progress we have made.  We now have the ability to identify risk earlier, prevent some cancers, detect others sooner, and tailor treatment more precisely. But we must make sure those advances are reaching everyone who can benefit from them.

The science has done its part. Now our systems of care must catch up.

Sue Friedman, DVM, is the founder and executive director of FORCE (Facing Our Risk of Cancer Empowered) and co-author of Confronting Hereditary Breast and Ovarian Cancer (Johns Hopkins University Press, 2012) and Living with Hereditary Cancer Risk (Johns Hopkins University Press, 2022).