Precision Oncology – innovation in cancer treatment and diagnosis


Sam Gibbons

Precision Oncology – innovation in cancer treatment and diagnosis

Precision medicine is a well-established trend in healthcare. It first emerged in 2003 and has dominated the healthcare investments ever since. It is now predicted to be worth $126 billion by 2025. Despite this, one sector of precision medicine - cancer genomics - is still a relatively new research area.

Cancer genomics sequences the DNA and RNA of cancer cells, then compares this to normal tissue, allowing the genetic differences that may cause cancer to be identified. It is also possible to measure the activity of genes encoded in our DNA to see which proteins might be abnormally active or silenced in cancer cells, leading to uncontrolled growth. The associated Big Data analysis provides a better understanding of the molecular basis of cancer growth, metastasis, and drug resistance by using clinical data about how patients responded to cancer treatment, laboratory experiments.

Sharing theses large data sets with researchers worldwide has become an increasingly important strategy for cancer research.

Targeted drug therapies

This use of genomic information is leading to better cancer diagnoses and treatment strategies that are tailored to patients’ individual condition. As a result, a number of drugs have been developed to fight cancer. They work by:

  • Inhibiting the enzymes that trigger abnormal growth and survival of cancer cells
  • Blocking aberrant gene expression
  • Halting molecular signalling pathways that are in overdrive in cancer cells

These targeted therapies have been designed to combat specific characteristics of cancer cells in a way that is far less likely to be toxic for patients than the less-targeted chemotherapy and radiation therapies.

Definition and Diagnosis

Cancer genomics research also helps to define cancer types and subtypes, providing a more precise diagnosis. Each cancer-causing or cancer-influencing genetic mutation becomes a potential target for new drug development.

Some of these genetic alterations interrupt the normal functioning of tumour-suppressor genes, which regulate cell growth and death, and are usually protective against cancer. Mutations in the tumour-suppressor genes BRCA1 and BRCA2, for example, have been linked to a much higher risk of breast, ovarian and prostate cancer.

Identifying the cancer-causing mutations can be essential to diagnosis, particularly when it comes to haematological cancers. Chronic myeloid leukaemia (CML) is diagnosed by the presence of a mutated gene called BCR-ABL, created by the transfer of genetic material from one chromosome to another. Most people with CML also have an unusually short chromosome called the Philadelphia chromosome, the presence of which is also key to diagnosis.

Developing treatments

One early treatment that targeted people with cancer with a particular mutation was trastuzumab. It was approved for the treatment of HER2-positive breast cancer in 1998. It was followed in 2001 by imatinib for forms of leukaemia with the Philadelphia chromosome mutation. And gefitinib, which targets the epidermal growth factor receptor in some lung cancers, was approved in 2003.

The possibility of treating cancer based on an individual tumour’s genetic profile has led to a surge in cancer-genome profiling of patients.


Some key companies to look out for:


Scorpion Therapeutics, Inc.

A next-generation oncology company pioneering precision oncology to develop best and first-in-class cancer medicines.

Their first program, STX-H1047-PI3Kα, targets the H1047X-mutant form of phosphoinositide 3-kinase alpha, a cancer driver associated with a wide variety of solid tumours.

Their second program, STX-EGFR-EXON20, selectively targets exon 20 insertion mutations in epidermal growth factor receptor, which drives non-small cell lung cancer.

Beam Therapeutics

Beam Therapeutics use innovative base-editing techniques to create precise, predictable and efficient genetic outcomes at the targeted DNA sequence. They use the rewriting of a single base in the genome to create a diverse toolkit that therapeutically intervenes to correct disease-causing point mutations, modify genes to create protective genetic variations, activate gene expression, silence gene expression, or “multiplex” and make multiple simultaneous edits.


This company has just been acquired by AccessDX Holdings, an international provider of advanced laboratory diagnostic solutions. A recognized leader and innovator in healthcare informatics, 2bPrecise helps organisations amplify their precision medicine strategies by delivering point-of-care insights. This helps providers identify patients at risk for heritable conditions, arrive at precise diagnoses more quickly and initiate optimal therapies more quickly.


A biopharmaceutical company currently transforming the development of ex vivo cell therapies and pioneering a new class of in vivo reprogramming therapies.

They recently announced a $17 million financing round - bringing the total to $33 million - to support the advancement of their immuno-oncology and ophthalmology programs. Proceeds from this financing will be used to advance Mogrify’s immuno-oncology and ophthalmology programs, inclusive of iPSC-derived allogeneic cell therapies targeting hematological and solid malignancies, as well as in vivo reprogramming therapies aiming to address retinal degeneration, a leading cause of blindness, through to IND-enabling studies.


So, what’s next?

Precision medicine means doctors will soon be able to prescribe based on how an individual patient body will respond, rather than simply age, height or weight.

Diagnosis and treatment will be directly tied to a specific genetic mutation that the tumour carries, regardless of where it's found in your body.

These nuanced approaches are already being refined, tested, and made more cost-effective so doctors and patients can use them on a regular basis.

A "pan-cancer" blood test that would identify cancer anywhere in your body is on the horizon. Scientists are excited about these so-called liquid biopsies, which could be used instead of expensive (and radiation-emitting) PET scans to do follow-ups in cancer patients.

Various types of precision immunotherapy are already in use, for instance, to treat patients with advanced cancer. CAR T-cell therapy uses a patients' own T cells, genetically engineering them, then putting them back into their bodies is a highly precise, personalised therapy.

More than 80% of oncologists believe precision oncology is important, yet most therapies have yet to fulfil the critical elements for adoption in clinical practice. They need more data to be collected, better clinical decision support and evolved education to make precision oncology reach its full potential.


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