Insight by: Debbie Lin
In a recent speech this September to leaders in science and medicine commemorating President John F. Kennedy’s space race to the Moon, President Biden spoke about his goal to win the race against cancer by highlighting a federal program, a part of his Unity Agenda, called the Cancer moon shot. The initiative aims to halve cancer deaths within the next 25 years.
As of today, there are 8 approved in-vitro diagnostics tests and 18 National Cancer Institutes’ (NCI) Early Detection Research Network (EDRN) developed biomarker tests approved for cancer detection. Twenty-eight targeted therapies were approved by the FDA in 2020, for patient populations defined by specific molecular biomarkers. Further the approval of the antibody for a variety of cancer immuno-regulatory receptors such as anti-programmed death-1 (antiPD1), has led to an expanding population of patients who may benefit from genomic sequencing. The landscape of clinically actionable genetic alterations is dynamic. Diagnosis, monitoring and targeted treatment in cancer is moving at a rapid pace in part due to technological advances in CRISPR, Next Generation Sequencing, and liquid biopsy among others. More tests are in development and will soon be made publicly available.
Moreover, beyond just the laboratory testing, molecular profiling companies are linking the multi-omic information to targeted therapies where there is clinical evidence, to enable clinicians to easily interpret and make clinical decisions around potential treatments. A wide availability of cancer testing across a variety of cancers provides tremendous promise for detecting and monitoring the progression of cancer both early and late stages at an unprecedented resolution. Furthermore, companies are taking a bioinformatics approach obtaining the individual molecular profile of a patient’s tumor and linking them to their health record information using artificial intelligence to predict a patient’s response to their treatment. This gives clinicians the opportunity to intervene and treat much earlier than in the past and even prevent clinical onset.
The impact of precision oncology on patient care and access to care
Undoubtedly, for the cancer patient and their families such technologies can provide incredible hope and relief by extending patient lifespans and quality of life. For healthy patients who have a family history of cancer, knowing ones’ genetic disposition towards cancer can help one optimize his or her lifestyle’s and seek early prevention-based interventions to extend one’s cancer free lifespan. For example, for women who carry the pathogenic BRCA mutation, routine testing is recommended for 25 years old and beyond and prophylactic oophorectomy and mastectomy for those over 35 years age.
Adoption of testing into the clinical guidelines along with enhanced public awareness of testing have increased the public demand for rapid genetic testing at the point of care. Beyond the clinical impact, the costs and individual social consequences of testing (including mental, social and lifestyle) can be tremendous. Patient and families’ lives can change drastically based on the results of one test and their individual decisions made thereafter.
Challenges of testing
Diagnostic testing however does not come without its challenges. Interpreting sequencing data whether at the genomic, RNA level or tissue level is very complex. Different genomic alterations are meaningful in different tumor types, some tumors have genetic alterations that are not clinically actionable while others that are linked to therapy may have the demonstrable sensitivity. The validity of tests in individuals can be hard to pinpoint in situations where diseases are changing in severity and in different care settings. Determining when to issue a diagnostic test can also be hard to assess in order not to under or over-diagnose and not to under or over treat.
For the physician and the health systems they work in, precision oncology diagnostic tests add to the expanding tool set to diagnose, monitor and treat cancer, empowering physicians to optimize treatment for a constellation of diseases that may allow them to find a true cure. Yet, physicians will be faced with a barrage of tests to choose between. How should they decide which test to use with so much information to interpret and compare? Health systems and insurance companies also will have much to consider. Which tests should be made available by the health system and covered by insurance and at what reimbursement level? The cost effectiveness of such tests will need to be evaluated. To begin to solve these questions, starting 2024, the National Cancer Institute will begin enrolling 24,000 patients over four years in a trial that will test how effective blood tests are for diagnosing cancer. If results are positive, a trial 10 times as large will commence.
Even more exciting – the data
Excitingly, the data generated from molecular profiling are being coupled with patient electronic record information, insurance claims data and being integrated so that data lakes could be created that allow clinicians and researchers to analyze information at the individual patient, hospital, healthcare system, sub-population and population level. Population based surveillance of disease and treatment could truly become individualized. While much of this work is being conducted by academic, research and open-source efforts, public and private organizations such as pharmaceutical companies and laboratory diagnostics companies are racing to amass data, and combine sequencing data with patient and claims data. Strategically, they are facing the choice to transform themselves into data/bioinformatics companies as compared to how they began, as drug research and development or lab services companies.
Precision oncology and its impact on our futures
One can imagine a world one day where patients and physicians have access to a complete library of tests that give the ability to precisely monitor our health. Moreover, consumers increasingly demand wearables, and they are becoming a seamless part of our daily lives. Many challenges still need to be addressed at the organizational and systems level regarding data privacy, access to tests, how tests are implemented, and interpreted and reimbursed. We, as individuals, will need to be ever more mindful about the impact of these technologies on our lives, how they change our relationship to our health and on the decisions, we make on how we take care of ourselves and our loved ones.
