Diagnosis and treatment
Personalised testing and therapies (e.g. genomic sequencing for cancer or rare disease diagnosis).
Advances in technology means that testing a whole genome (the entire genetic code) is now possible at speeds and costs that were unimaginable just a decade ago, meaning many different genetic conditions could be looked for in one test. This has led to new genetic diagnoses, and a shorter diagnostic journey for many families. Nevertheless, interpreting genetic variation is not a straightforward task: identical genetic variation can result in different signs and symptoms in different individuals; similar signs and symptoms can have different genetic causes; and the wider we look, the more uncertainty we invite.
Personalised medicine can also be applied to treatments, identifying the most appropriate, targeted treatment for each individual or subsets of individuals and tailoring interventions to a particular person. The ability to predict which treatments will be safe, effective and tolerated based on a person’s genomic, epigenomic and proteomic profiles has the potential to both improve quality of life and reduce financial burdens on the healthcare system. However, the development of targeted medicines is challenging particularly when the target group of patients is small, or sometimes just a single patient.
The CPM is exploring the potential benefits and challenges of personalised diagnostic and treatment approaches.
2024/25 topic: Cancer vaccines (precision prevention)
