Fred Hutch Cancer Center

Dr. Marianne Dubard-Gault, MD, MS, Medical Director of Cancer Genetics at Fred Hutch Cancer Center, integrates preventive medicine, oncology and genetics to address patients’ cancer concerns. With expertise honed at prestigious institutions like Université de Bordeaux II and Memorial Sloan Kettering Cancer Center, she tailors screening strategies using genetic testing.

She addresses patients’ concerns regarding personal and familial cancer histories. By using genetic testing, she crafts personalized screening strategies to detect and prevent cancer early. Her research initiatives unravel genetic predispositions to cancer. Driven by a lifelong curiosity about cancer’s origins and prevention, her journey underlines a commitment to transforming cancer care.

Through this article, Dubard-Gault explains how genetic screening for disease risk is still in its early stages but holds incredible potential to revolutionize the prevention, diagnosis and treatment of diseases like cancer.

What are the main challenges hindering the widespread adoption of genetic testing and how do you propose addressing them?

Awareness is a significant hurdle. Surprisingly, many people are still unaware of the role their DNA plays in health, especially concerning cancer risks. The notion that these risks might be deeply embedded in our genetic code passed down through generations often seems more like a myth than a reality. Highlighting the importance of this knowledge is essential, as it encourages individuals to discuss genetic factors with their healthcare providers.

Another major challenge lies within the medical community. A number of doctors, particularly in primary care, may not have extensive training in genetics, leading them to view genetic risk factors as rare or unlikely in their patients. This lack of awareness can result in missed opportunities for early detection and intervention, affecting not just the individual but their entire family.

The process itself presents the third challenge. Even when there’s awareness and doctors are on the lookout for genetic risks, the pathway to getting tested and acting on those results is fraught with obstacles. From bureaucratic red tape to insurance barriers, these issues can prevent essential genetic testing from being carried out. Tackling these problems requires dedication and a collective effort to ensure that once a genetic risk is identified, the process toward testing and potentially life-saving intervention is as smooth as possible.

What are your thoughts on the current state of genetic testing for disease risk compared to other medical fields?

Genetic testing for disease risk is still in its infancy compared to other medical fields. While doctors have studied areas like cardiovascular disease for over 100 years, human genetics has only been unlockable since 1999. That was the first time we could connect DNA to cancer risk. This field is less than 25 years old, yet the future possibilities are incredibly exciting.

This is just the beginning; genetics will increasingly be integrated into all aspects of healthcare in the coming decades. As we better understand the role of DNA, we can use that information to choose more targeted prevention, diagnosis and treatment approaches tailored to each patient. Genetics will empower more precise, personalized medicine rather than a one-size-fits-all strategy.

The most promising application is using genetics to pick the optimal intervention for the right patient at the right time. This has the power to greatly reduce the burden of diseases like cancer in the future. If we can leverage genetic insights to catch cancers earlier or prevent them altogether, we can dramatically improve outcomes.

In the next ten years, there will likely be an explosion of genetic testing along with rapid advances in how we interpret and apply genetic data. Though there is still a long way to go, we are headed toward a future where DNA sequencing and analysis allow doctors to understand each patient’s disease risks and customize care plans based on their genetic makeup. This has the potential to save countless lives.

 What would be your piece of advice as an industry veteran to a fellow peer?

 Understanding the genetic roots of cancer unlocks revolutionary new possibilities for treatment and prevention. Finding out the ‘why’ behind cancer at the DNA level enables paradigm-shifting approaches.

The development of poly-ADP-ribose polymerase (PARP) inhibitor drugs for ovarian cancer is a powerful example of this. These drugs target a specific genetic mutation, enabling stage 4 ovarian cancer patients to live even ten years longer– outcomes we never dreamed possible a decade ago. This is just scratching the surface of the potential of genetic insights.

As we uncover more about the fundamental reasons people get cancer written in their DNA, we open the door to new therapies and preventive interventions beyond our current comprehension. Finding out why cancer develops at the genetic level and applying those breakthroughs has virtually unlimited potential to dramatically shift how we predict, detect and treat cancer in the future.

The ‘why’ behind cancer pathogenesis is perhaps the most promising key to unlock. Even today, we cannot fully grasp the possibilities this could unleash years down the road—it may completely revolutionize oncology, leading to cures for previously incurable cancers. But making strides toward unraveling the root genetic causes of cancer will start opening doors to the paradigm-shifting advances of tomorrow. The progress in ovarian cancer survival with PARP inhibitors provides just a glimpse of the quantum leaps that may be achievable as we unravel more genetic drivers, which could profoundly transform patient outcomes.