19.07.11future_of_genetics_in_pathology

Question 1

How many tumour genomes will 100k project sequence

Answer 1

25,000

Question 2

Which companies will use tumour genome data to look for actionable mutations that can be targeted by chemotherapeutic drugs

Answer 2

AstraZeneca and Pfizer.

Question 3

What is the stratified medicine program

Answer 3

Sequencing tumour genomes to identify actionable mutations that can be target by chemotherapeutics.

Question 4

What can researchers do with de-identified data from 100k project

Answer 4

• 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

Question 5

What is the moratorium of the use of genetics testing by insurers

Answer 5

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.

Question 6

Issues with large scale sequencing projects

Answer 6

-Data storage. Expensive. Ensuring it is secure as it contains patient information

Question 7

What is personalised medicine

Answer 7

Targeted therapies and better patient management depending on the patient rather than a one size fits all

Question 8

Benefits of personalised medicine

Answer 8

Most appropriate intervention is used in a patient. Reducing cost by reducing unnecessary tests/treatments, preventing adverse reactions.

Question 9

Main principles of personalised medicine

Answer 9

• Prediction and prevention of disease
• More precise diagnosis
• Targeted and personalised interventions

Question 10

What is pharmacogenetics

Answer 10

• The analysis of how genes affect an individuals response to drugs.
• Personalising therapy to maximise therapeutic benefit and avoid adverse drug reactions/side effects

Question 11

Example of where genetics can interfere with drug function

Answer 11

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

Question 12

What does the Human Genomics strategy group do

Answer 12

To develop a strategy for genomics in NHS, integrating genomic medicine into mainstream healthcare. Evaluates genetic research and their benefit to healthcare services

Question 13

A key principle of 100k initiative

Answer 13

• Establish mainstreaming of genomics in the NHS

- Upskill workforce to embrace genomic technologies

Question 14

Expectations of the future of genetic testing

Answer 14

Chief medical officer- Prof Dame Sally Davies- all NHS patients should be able to access genome testing if required.

Question 15

Cancer test directory has 4 main tumour types:

Answer 15

• Solid tumour (adult or paed)
• Neurological tumour
• Sarcomas (tumour of connective tissue/ mesenchymal) e.g. bone, fat, cartilage
• Haematological tumours

Question 16

Issues of Direct to consumer testing

Answer 16

• Accuracy and usefulness in doubt.

- Possible issues regarding 3rd party access to data

Question 17

Benefits of pathogen genomics

Answer 17

• 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.

Question 18

What is point of care testing

Answer 18

Medical testing at or near the site of patient care bringing the test conveniently and immediately to the patient.

Question 19

Benefits of point of care testing

Answer 19

• 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

Question 20

Example of point of care genetic testing

Answer 20

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.

Question 21

Why have a 7 day service

Answer 21

• Evidence of poor outcomes for patients admitted at the weekend.
• 5 day service model means there is a lack of consistent specialist services.

Question 22

What does Innovative Medicines and Medical Technology Review do

Answer 22

Examines how to speed up access for NHS patients to cost-effective new diagnostics, medicines and devices.

Question 23

How could new tests and medicines be implemented into NHS faster

Answer 23

-Better collaborations between companies and regulatory bodies to assess products faster