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A Year of Change and an Exciting Chapter Ahead

This article was originally published on LinkedIn.

December is always a busy time. Suddenly everyone seems to be filled with a sense of urgency and purpose as the holidays approach and the year draws to a close. There’s almost a static charge to the air; a feeling of anticipation around what the new year may bring when it explodes into life after a few short days of rest with family and friends.

2019 has a special significance for me as it has marked the start of a new chapter in my life. A new city, a new home and a new direction for me professionally. I feel so at home at Foundation Medicine that it seems impossible that it was only 10 months ago that I arrived. But from the start, I was welcomed by a wonderful team of people who shared their sense of purpose with me, and my passion and commitment for what we are achieving together has grown from that moment.

I’ve said this previously, but it’s also been a year of tremendous advancement in precision medicine and a tipping point for comprehensive genomic profiling (CGP). The impact of CGP is being felt not just in the research setting, but in the clinic as well; providing answers and insights, helping to guide treatment decisions and changing the outlook for many people living with cancer.

But when you reach a tipping point, you find yourself at the beginning of a fresh journey. Precision medicine may be a reality in the oncology landscape of 2019, but so far, we have only unlocked a fraction of its potential. So, when 2019 draws to a close and we all arrive back to work in 2020, refreshed and eager to tackle the next big milestone, where might this new chapter in the precision medicine journey take us?

A number of studies presented at San Antonio Breast Cancer Symposium (SABCS) last week provided a glimpse into the huge potential of CGP and precision medicine, not just for breast cancer, but oncology as a whole.

The influence of age on breast cancer outcomes

One study presented at SABCS demonstrated that true personalization of cancer medicine goes beyond tumor type or stage. Advanced breast cancer in younger women is an aggressive disease and has a higher mortality rate than for older patients, in part because physicians need to balance treatment with reproductive health. The incidence of breast cancer in younger women has almost doubled in the last 40 years which makes it all the more vital that we better understand the specific drivers of breast cancer in younger women.

The study used CGP to identify and compare genomic drivers in younger and older women and found specific age-related differences that were consistent across histological and molecular breast cancer subtypes. For example, there were markedly lower frequencies of PIK3CA alterations in younger women but higher frequencies of BRCA1/2 alterations.

These results have multiple implications, both for breast cancer and precision medicine in general. In the clinic, this knowledge could be invaluable to help oncologists guide treatment decisions or match breast cancer patients with clinical trials. But these results also pose the question of how many other cancers exhibit age-dependent differences in genomic drivers that could influence treatment decisions and patient outcomes?

To me, this study strongly reinforces the pivotal role CGP can play in truly personalizing the patient journey. However, we can only harness that potential through widespread and routine access for all patients.

The evolution of CGP beyond diagnostics

Another study presented at SABCS in collaboration with Indiana University provided insight into a future where CGP has a role as a prognostic tool for recurrence in earlier stage cancers. This is incredibly exciting as it shows how CGP could evolve from clinical utility in the late-stage setting to a technology that is fundamental in our approach to treating cancer across the patient’s journey.

Triple negative breast cancer (TNBC) is another aggressive cancer with high recurrence rates and fewer treatment options than other subtypes. Neoadjuvant chemotherapy has become standard treatment in early-stage TNBC, but disease recurrence is still high. Currently, decisions around adjuvant treatment after surgery and radiotherapy are based on clinical factors and there isn’t a consistent approach to risk stratification.

This recent study used CGP to determine if detection of circulating tumor DNA (ctDNA) after neoadjuvant chemotherapy could help predict the risk of later disease recurrence. The phase II trial tested more than 150 patients using our FoundationOne Liquid test, which profiles 70 commonly mutated oncogenes through analysis of ctDNA.

At 24 months, the results demonstrated a significant association between disease recurrence and the detection of ctDNA. Furthermore, the higher quantity of ctDNA detected, the higher the risk of recurrence.

Being able to better predict outcomes and more accurately stratify risk right at the start of a patient’s TNBC journey could have big implications for treatment success and is welcome news in such a difficult cancer to treat. Using CGP in this setting means that the specific driver mutations can be identified early on which could also help optimize adjuvant treatment approaches for those with high risk of recurrence. With our collaborators, we are looking at potential designs for new basket trials that would do just that and generate further evidence for this approach.

The road ahead for CGP

These results highlight the potential promise of CGP from a much wider perspective. Being able to accurately predict recurrence risk alongside identification of the specific mutational drivers for a patient’s cancer gives us a much more complete picture of a patient’s likely cancer journey. It means we can strategically plan our approach to treatment, assessing different combinations and sequences based on our knowledge of how the cancer is likely to respond, to choose the best possible treatment pathway. Suddenly, the approach becomes more like a game of chess, and the ability to develop monitoring tools through our partnership with Natera means we also have the great potential to evolve and adjust treatment strategies in real-time.

As 2019 comes to a close, I’m proud of the tremendous advancements in cancer care but also recognize there is still much work to do to make precision medicine a reality for more patients. It will require the entire precision medicine ecosystem to continue driving forward with the same objective to enable better outcomes for all patients living with cancer. And it is with that thought in mind that I wish you all a restful end to 2019 and a 2020 filled with promise, collaboration and even greater achievements in our efforts to change the outlook for patients living with cancer.

Follow Foundation Medicine CEO Cindy Perettie on Twitter and LinkedIn.