19.07.11future_of_genetics_in_pathology Flashcards
How many tumour genomes will 100k project sequence
25,000
Which companies will use tumour genome data to look for actionable mutations that can be targeted by chemotherapeutic drugs
AstraZeneca and Pfizer.
What is the stratified medicine program
Sequencing tumour genomes to identify actionable mutations that can be target by chemotherapeutics.
What can researchers do with de-identified data from 100k project
- TO improve diagnosis of rare disease
- Impact of genetics on health and healthcare
- Which treatments work best for certain people
- Understand causes of disease better
What is the moratorium of the use of genetics testing by insurers
Agreement between UK gov and Association of British Insurers- only disclose genetic results if for HD or if insurance policy is worth more than £500k. Don’t need to disclose genetic results obtained in the context of major research projects.
Issues with large scale sequencing projects
-Data storage. Expensive. Ensuring it is secure as it contains patient information
What is personalised medicine
Targeted therapies and better patient management depending on the patient rather than a one size fits all
Benefits of personalised medicine
Most appropriate intervention is used in a patient. Reducing cost by reducing unnecessary tests/treatments, preventing adverse reactions.
Main principles of personalised medicine
- Prediction and prevention of disease
- More precise diagnosis
- Targeted and personalised interventions
What is pharmacogenetics
- The analysis of how genes affect an individuals response to drugs.
- Personalising therapy to maximise therapeutic benefit and avoid adverse drug reactions/side effects
Example of where genetics can interfere with drug function
is a humanized monoclonal antibody that targets complement protein C5 and inhibits terminal complement-mediated hemolysis associated with paroxysmal nocturnal hemoglobinuria (PNH). Patients with p.(Arg885His) in C5 have poor drug response
What does the Human Genomics strategy group do
To develop a strategy for genomics in NHS, integrating genomic medicine into mainstream healthcare. Evaluates genetic research and their benefit to healthcare services
A key principle of 100k initiative
- Establish mainstreaming of genomics in the NHS
- Upskill workforce to embrace genomic technologies
Expectations of the future of genetic testing
Chief medical officer- Prof Dame Sally Davies- all NHS patients should be able to access genome testing if required.
Cancer test directory has 4 main tumour types:
- Solid tumour (adult or paed)
- Neurological tumour
- Sarcomas (tumour of connective tissue/ mesenchymal) e.g. bone, fat, cartilage
- Haematological tumours
Issues of Direct to consumer testing
- Accuracy and usefulness in doubt.
- Possible issues regarding 3rd party access to data
Benefits of pathogen genomics
- WGS can discriminate between pathogens with greater sensitivity and specificity.
- WGS can offer other information such as identity, drug resistance, relatedness to other pathogens, virulence determinants.
What is point of care testing
Medical testing at or near the site of patient care bringing the test conveniently and immediately to the patient.
Benefits of point of care testing
- Increases likelihood results will be received sooner, faster implementation of clinical management
- Reduces number of visits to healthcare professional.
- Filters out non-affected patients
- Cheaper, smaller, faster POCT devices has made it more cost effective for some diseases
- Overall cost reduction
Example of point of care genetic testing
Testing newborns with sepsis for m.1555A>G. Can be done rapidly and prevent irreversible sensorineural hearing loss due to aminoglycoside (gentamicin). Variant is in 1/500 patients. Collaboration between Manchester and mol diagnostic company created a device that can identify variant in ~40 mins.
Why have a 7 day service
- Evidence of poor outcomes for patients admitted at the weekend.
- 5 day service model means there is a lack of consistent specialist services.
What does Innovative Medicines and Medical Technology Review do
Examines how to speed up access for NHS patients to cost-effective new diagnostics, medicines and devices.
How could new tests and medicines be implemented into NHS faster
-Better collaborations between companies and regulatory bodies to assess products faster
