Personalised Medicine

Question 1

How can stratified medicine be defined?

Answer 1

Various definitions:

The grouping of patients based on risk of disease or response to therapy by using diagnostic tests or techniques.

The tailoring of medical treatment to the individual characteristics of each patient [through assigning patients to certain subpopulations].

[Within genetics}: The use of genetic or other biomarker information to improve the safety, effectiveness and health outcomes of patients via more efficiently targeted risk stratification, prevention and tailored medication and treatment management approaches.

An emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.

Question 2

What are the main benefits of personalised medicine within genomic testing?

Answer 2

Better/more accurate diagnosis (molecular sub typing of disease) e.g. in CNS tumours

Optimal treatment selection e.g. response to TKIs / immunotherapy

Improved/more accurate prognostication e.g. high/low risk profiles in acute leukaemias

Avoidance of drug toxicities (e.g. DPYD/TPMT testing)

More cost effective healthcare (improved response rates by not giving patients expensive drugs that are unlikely to work)

Question 3

What are the four ‘P’s of precision medicine?

Answer 3

Precision medicine involves the ‘Four Ps’:

1. Prediction and prevention of disease
2. Precise diagnosis
3. Personalised interventions
4. Participatory role for patients

Question 4

What is personalised medicine?

Answer 4

election of the best approach to manage a specific patient, based on available biological information about the patient as well as a patient’s personal preferences, environmental factors, social factors and other factors that may affect the treatment choice.

Question 5

What is precision medicine?

Answer 5

A disease treatment or prevention that takes into account some individual variability. An example may be the decision to proceed with allogeneic stem cell transplant in the context of AML patients in complete morphological remission: clinicians have to consider not just the prognostic risk associated with the genetic profile of the AML clone, but also patient’s age, co-morbidities, MRD, personal preferences.

Question 6

What are the benefits of stratified medicine in genetics?

Answer 6

1. 1. Better diagnosis and earlier intervention – molecular sub-typing of disease, and susceptibility to medicine toxicities, guide treatment choices, prognostics.
      2) Optimal treatment selection – The use of genetic and other forms of molecular screening allows clinicians to select optimal therapies.
      3) More efficient medicine development – Aid in identification of new disease sub-groups, their associated molecular pathways and design of drugs to target these.