What Is Precision Oncology?

Precision Oncology

Precision oncology is a rapidly developing and exciting area of research

Precision oncology allows for targeted therapy based on a person’s molecular and genetic characteristics. We know that cancer is an extremely heterogeneous disease – both between patients and even within the cancer cells of an individual patient. Precision oncology is based on the premise that there is no “one size fits all” treatment. The future of cancer care may well be one where a patient’s genetic profile is a standard part of oncology care, driving how we approach the detection, diagnosis, treatment, and outcomes of cancer patients around the world.

What is precision oncology?

Precision oncology is defined as the molecular profiling of tumors to identify targetable alterations. In simpler terms, it’s the science of using a patient’s genetics to create a treatment plan targeted to the molecular characteristics of their cancer. The emergence of precision oncology, and the development of more personalized and targeted treatment modalities, is an exciting time in the fight against cancer. Precision oncology is a rapidly developing and exciting area of research that is making its way, more and more, into mainstream oncology practice.


Because this field is emerging, there is no standardized name for this area of medicine. Precision oncology is also referred to as:


  • Personalized cancer medicine
  • Individualized cancer medicine
  • Personalized medicine
  • Genomic medicine
  • Precision medicine
What Is Precision Oncology?

Did you know?

In 2018, the global cancer burden was estimated to have increased to 18.1 million new cases and 9.6 million deaths.¹ Discovering actionable genomic insights is more critical than ever to continue to drive research forward.

1. World Health Organization Press Release. September 12, 2018.
Available at: https://www.who.int/cancer/PRGlobocanFinal.pdf

What is Precision Oncology
What Is The Goal Of Precision Oncology?

What is the goal of precision oncology?

The ultimate goal of precision oncology is to improve patient outcomes. “Traditional” cancer therapies like chemotherapy is cytotoxic to most cells, so it can damage healthy cells in addition to killing cancer cells. While chemotherapy can be very effective and is a mainstay of cancer treatment for many patients, it also comes with the potential for many side effects.


Precision oncology allows for targeted therapy, which hones in on a specific genetic biomarker. By doing this, targeted therapies can block cancer cells with that genetic biomarker from dividing and growing – sparing healthy cells, and limiting side effects. Some precision oncology treatments do not target only the origin of the tumor (e.g., breast or lung cancer cells), but any cell in the body with an oncogenic mutation (and thus, has the potential to be cancerous). Studies have also been performed to discover targets that predict the effectiveness of chemotherapy and radiation therapy.

Ways precision oncology can drive improved cancer care:

  • Identify who might be at high risk for cancer
  • Detect certain cancers early
  • Assess a patient’s prognosis for certain types of cancer
  • Choose a treatment plan that best matches a patient’s cancer to improve their chances of survival and enhance their quality of life
  • Evaluate how a treatment is working (treatment response)
  • Discover why a patient is resistant to a treatment

What do cancer “biomarkers” mean?

Cancer biomarkers include structural changes within the genome, abnormal features of gene products, or biochemical effects of the tumour. Cancer biomarkers can include:


  • Proteins
  • Gene mutations
  • Gene rearrangements
  • Extra copies of genes
  • Missing genes
  • RNA
  • Signaling molecules, such as hormones
What Do Cancer Biomarkers Mean?
What Do Cancer Biomarkers Mean?

Some cancer biomarkers can be used to predict how aggressively cancer will grow, and are therefore useful for assessing prognosis. However, one may argue that the most promising use of biomarkers is to identify which therapies a particular patient’s cancer may or may not respond to, thereby optimizing their treatment plan.


After decades of research, several cancer biomarkers across different cancer types have been identified, with more being identified as research continues. Commonly known genetic biomarkers include EGFR, ALK, MET, ROS1, NTRK, HER2, KIT, BRAF and BRCA1/BRCA2. Mutations in these genes have been validated as powerful predictive biomarkers in the management of diverse solid tumours such as non-small cell lung cancer (NSCLC), gastric cancer, gastrointestinal stromal tumours, melanoma, breast cancer and ovarian cancer. Moreover, effective cancer therapies (referred to as “targeted therapy” or “biologic therapy”) have been developed to target these specific biomarkers.

Biomarkers are not limited to cancer. There are also biomarkers for other diseases, such as some genetic diseases.

For selected tumour types – with identified and validated biomarkers (e.g., EGFR) – gene sequencing is now part of routine cancer care. More recently, emerging biomarkers have been linked to the response to targeted agents irrespective of tumour type, such as the NTRK family fusions.


Ongoing research continues to uncover new biomarkers. Cutting-edge sequencing technology can now generate high-volume, high-quality genomic sequencing data, which helps accelerate translational research and helps drive drug development programs. In fact, the proportion of clinical trials requiring a genetic alteration for enrollment has increased dramatically over the past several years, and many studies have demonstrated the benefit of targeted therapies over cytotoxic therapies in both progression-free survival and overall survival.

What Do Cancer Biomarkers Mean?
Is Precision Oncology For Everyone?

Is precision oncology for everyone?

Despite many breakthroughs in recent years, a precision oncology approach to treatment is not yet part of routine care for most patients. The presence of actionable genetic insights, or biomarkers, is not known for all cancer types. This is what makes continued translational and clinical research in precision oncology critical.


Although targeted therapies have shown much promise, implementation across the broad landscape of oncology presents challenges. These include:


  • Need for deeper understanding of the functional consequences of variant alleles
  • Clinical research and practice models that are more patient-centered and account for the complexity of individual patient tumours
  • Need for greater enrollment of appropriate patients in clinical trials

How does precision oncology work?

Different types of advanced technologies are used to genetically profile tumor cells across cancer and tissue types. Next-generation sequencing (NGS) is considered the foundation for precision oncology. Next-generation sequencing allows for the rapid and accurate sequencing of many genes at once and is both fast and cost-efficient.


NGS involves multiple steps of polymerase chain reaction (PCR) amplification, target enrichment if needed, and massive parallel sequencing of DNA fragments. The technology is continuously evolving as new knowledge is gained. Precision oncology has tended to focus on the cancer genome, but new research has started to take into account RNA and proteins. In fact, RNA sequencing (RNA-Seq) with NGS has revolutionized transcriptome research. It provides a high-resolution view into gene expression and regulators at both coding and noncoding regions. Insights gained help drive the development of new targeted therapies.

How Does Precision Oncology Work?
How Does Precision Oncology work?

NGS technology has fundamentally changed the kinds of questions scientists can ask and answer. Innovative sample preparation and data analysis options enable a broad range of applications. NGS allows researchers to:


  • Rapidly sequence whole genomes
  • Focus on sequence target regions
  • Utilize RNA-Seq to discover novel RNA variants and splice sites, or quantify mRNAs for gene expression analysis
  • Sequence cancer samples to study rare somatic variants and tumor subclones

Diagnostic Considerations in Precision Oncology Testing:

  • Choice of assay and design
  • Sequencing capability
  • Cost
  • Sample types
  • Sample quality
  • Turnaround time
  • Certifications of laboratory
  • Bioinformatics analysis
  • Clinical interpretation

How important is collaborationin driving precision oncology forward?

Collaboration is central to unleashing the full potential of precision oncology. The progress we have made to date is largely the result of better collaboration amongst doctors, researchers, regulators, diagnostic companies and drug companies – from research collaborations and clinical decision support to data collection and analysis. A continued focus on knowledge sharing and cooperation is needed to accelerate precision oncology, with the ultimate goal of benefiting more patients.

Precision Oncology - How important is collaboration in driving precision oncology forward?

What challenges exist in precision oncology?

Precision oncology has made enormous progress, yet there remain some challenges. It’s important to continue to problem-solve and work collaboratively to overcome these challenges. Key challenges include:

Privacy concerns

Advancing precision oncology depends on patients with cancer donating samples of tissue for research purposes. Country-specific privacy rules and regulations must be abided by to protect patients’ privacy rights. In Canada, the collection and use of personal healthcare information is governed by PIPEDA regulations. In the U.S., institutions and researchers must comply with HIPAA regulations. Adhering to these stringent rules is of course necessary, but can slow down the research process.

Precision Oncology - Collaboration Roadblocks

Collaboration roadblocks

Accelerating progress in precision oncology depends significantly on researchers from different hospitals, universities and institutions working together and sharing information, as well as collaborating with various industries. Work still needs to be done to promote a collaborative culture amongst all key players.

Precision Oncology - Big Data Security

Big data security

A very large amount of data is collected by researchers and companies when genetically profiling tumours, often referred to as “big data.” Secure ways to store, share and study this big data is vital to the research and development process. It is essential to identify the limitations of existing solutions and envision directions for future research to address any gaps.

Precision Oncology - Data Storage

Data Storage

While genomics data offer great potential for understanding disease, their acquisition also presents a major challenge: storage. Consider this: the National Cancer Institute’s Cancer Genome Atlas contains 2.5 petabytes of data, which is equivalent to over 530,000 DVDs. While the generation of such large volumes of data is standard in some scientific fields, it is still a growing aspect within precision oncology.

Icon Genetic Testing

Concerns over genetic testing

Screening people for the presence of a cancer biomarker (e.g., a hereditary cancer gene) may provoke a lot of anxiety for a person and their family. This may prevent many patients from consenting to genetic testing. Increased education and counselling are needed to help patients understand the role of genetic testing, including its potential benefits in terms of diagnosis and targeted treatment.

What is the future of precision oncology?

Targeted therapies are widely regarded as the framework for future treatment paradigms in the precision oncology era. With improved understanding of the molecular pathways that drive tumour growth, and the increasing availability of cost- and time-efficient NGS technologies, the future for precision oncology is indeed very bright.


As developments continue, we may one day see a time when genetic tests are standard across cancer types, and form the basis in deciding which treatments a patient’s tumour is most likely to respond to, and avoiding treatments that may not significantly benefit them. As we generate more evidence in clinical trials and aggregate more molecular and clinical data in real-world databases, the hope is that we discern more actionable insights to further drive precision oncology forward, and reach more patients.

What Is The Future Of Precision Oncology?
What Is The Future Of Precision Oncology?

The influence of new technologies also holds much promise. For example, the CRISPR/Cas system and cryo-electron microscopy (cryo-EM), whose discoverers were awarded the 2020 Nobel Prize in Chemistry, will broaden and sharpen our ability to identify novel therapeutic targets for precision oncology. CRISPR/Cas technology enables the controlled exchange, insertion and deletion of DNA sequences (gene editing), and can easily generate animal models that mimic the mutational status of patients.


The importance of precision medicine research is underscored by the large-scale support of the Canadian government. In 2018, the Government of Canada announced two new major investments in genomics research totalling $255 million from federal and provincial governments, as well as research institutions and private sector partners. Cancer treatment, in particular, stands to highly benefit from personalized therapies, since extensive variability between tumours presents a need to target each case in a personalized manner.

Moving Forward

The field of oncology has developed and expanded dramatically, yet there is no “cure” for cancer. We know that cancer is an extremely heterogeneous disease – both between patients and even within the cancer cells of an individual patient. Precision oncology is based on the premise that there is no “one size fits all” treatment. Treatment is tailored to an individual patient based on their molecular and genetic characteristics. The future of cancer care may well be one where a patient’s genetic profile is a standard part of oncology care, driving how we approach the detection, diagnosis, treatment, and outcomes of cancer patients around the world.

See Geneseeq Precision Oncology Solutions
Geneseeq - Precision Oncology Company


Learn more about our products and services or contact us today to discuss how we can partner together.

Contact Us