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Genomics > Personalised genomics: bench to bedside > Flashcards

Personalised genomics: bench to bedside Flashcards

1
Q

Uses of personalised genomics

A

Grouping patients based on risk of disease or response to therapy

  • Therapy selection
  • Group subpopulations uniquely susceptible to a disease or responsive to a specific therapy

Tailoring treatment to the individual characteristics of each patient

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2
Q

What does personalised medicine use?

A

Combines knowledge about a person (genes, proteins and environment) to predict disease susceptibility, prognosis or treatment response

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3
Q

What does stratification mean?

A

Division of patients with a particular disease into subgroups based on a specific characteristic who respond more frequently to a particular drug or are at a decreased risk of side effects in response to a certain treatment

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4
Q

What is personalised medicine?

A

Tailoring therapy to the individual patient

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5
Q

What is precision medicine?

A

Targeting patients to specific therapies

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6
Q

What is statified medicine?

A

Separating patients to therapy groups

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7
Q

What percentage of patients respond positively to a drug?

A

30-70%

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8
Q

Why is stratified medicine useful?

A

The one-size-fits-all drug approach is dysfunctional, since patients vary in their response to the same drug due to genetic variations found between different individuals

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9
Q

What does stratified medicine provide?

A

More inclusive patient groups allowing for everyone to have a positive respond to the drug tested

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10
Q

What are the two aims of patient stratification?

A

Improve outcomes

Reduce adverse events

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11
Q

Examples of targeted therapies

A

Hormone therapies

Signal transduction inhibitors

Gene expression modulators

Apoptosis inducers

Angiogenesis inhibitors

Immunotherapies

Monoclonal antibodies

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12
Q

Goal for hormone therapy

A

Slow or stop the growth of hormone-sensitive tumours

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13
Q

For which cancers have hormone therapies been approved?

A

Breast cancer

Prostate cancer

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14
Q

Goal of signal transduction inhibitors

A

Block the activities of molecules that participate in signal transduction

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15
Q

What is a key feature of regarding signal transduction pathways?

A

The mutations are mutually exclusive

So a cancer cell is dependent on the mutation of just one of the signalling pathways

Two signalling pathways cannot be mutated at the same time

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16
Q

How do gene expression modulators work?

A

Modify the gunction of histones or other epigenetic proteins that play a role in controlling gene expression

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17
Q

Goal of monoclonal antibodies

A

Deliver toxic molecules

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18
Q

What information is obtained from Sophia genetics?

A

Reports mutation in cancer to

  • define pathogenicity
  • identify cancer drivers
  • highlight publications and potential existing therapeutic options
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19
Q

What is the most difficult jobs for bioinformaticians?

A

Analyse the data and decipher what is important and what is not

Needs to clear out all the non-deleterious SNPs and genomic data to identify driver and germline mutations

20
Q

Why is there no point in looking at all of the genome for identifying cancer mutations?

A

40-50% of cancers are caused by the same mutations to JAK/STAT or KRAS

The rest of the mutations have no therapy

21
Q

Which mutations cause most of the cancers?

A

JAK/STAT

KRAS

22
Q

Are drugs the only way personalised medicine can be used for?

A

NO

Can also be applied for other types of therapy

23
Q

Examples of genomic markers being used for extra-pharmacological therapies

A

Current treatment for bladder cancer is chemotherapy and radiotherapy

Two predictive markers have been identified which can help treatment selection of either surgery or radiotherapy

AIMP3 and ERCC1

24
Q

What is AIMP3?

A

Positive predictive marker for radiotherapy

Translocated to the nucleus in response to DNA damage, helping apoptosis

25
Q

How does AIMP3 increase apoptosis?

A

Translocates to the nucleus following radiotherapy-induced DNA damage

Helps ATM/ATR-mediated p53 activation and subsequently triggers apoptosis

26
Q

What is ERCC1?

A

A negative predictive marker for radiotherapy

27
Q

What type of protein is ERCC1?

A

DNA excision repair protein

Functions to repair damaged DNA

28
Q

What has measuring ERCC1/AIMP3 biomarkers shown?

A

> 80% survival at 3 years for AIMP+ve/ERCC1-ve

<20%survival at 3 years for AIMP3-ve/ERCC1+ve

When given radiotherapy

29
Q

Examples of patient specific therapies

A

CAR T cells

Achilles therapeutics

30
Q

What are CART cells?

A

Chimeric antigen receptors

Receptors are grafted onto an immune effector cell and transfected with CD19 CAR genes

Chimeric T-cells are made which recognise CD19 as an antigen

CD19 is detected by these CAR T cells

31
Q

Which cells express CD19?

A

All B-cell malignancies including chronic lymphocytic leukemia, ALL and non-Hodgkin’s lymphoma

32
Q

What mutations lead to B-cell malignancies?

A

BCR ABL mutations

33
Q

Advantages of CAR-T cells

A

Works in >80% of patients with pediatric ALL

Truly patient specific

Few side effects

Cost

34
Q

Disadvantages of CAR-T cells

A

Costs

Time

Response rates are poor in solid tumours

35
Q

Company that has developed CAR-T cells

A

Novartis

36
Q

What is Achilles therapeutics?

A

Company developing immune therapy for specific truncal neoantigens

37
Q

Why must the administration of warfarin be carefully controlled?

A

Narrow therapeutic window

38
Q

Which class of genes are mutated in warfarin sensitivity?

A

CP450

39
Q

Examples of genes linked to warfarin sensitivity

A

CYP2C9

VKORC1

40
Q

What percentage of the variation of warfarin metabolism do these polymorphisms account for?

A

30% of the variation

41
Q

Example of a technology that aims to replace the lab based test for warfarin sensitivity

A

Quantum DC

42
Q

What is the goal of personalised medicine?

A

Providing the right medicine to the right patient at the right dose at the right time

43
Q

How does personalised medicine aim to carry out its goal?

A

Through tailoring medical treatment based on the individuals biological data, needs and preferences throughout all stages of care including prevention, diagnosis and treatment

44
Q

Genetics behind quitting smoking

A

Smokers with a fast metabolism do not do well on nicotine patches

45
Q

Which genes control nicotine metabolism?

A

CYP2A6

CHRNA5

46
Q

Chen et al

A

Time of smoking relapse was associated with CYP2A6 genotype-based estimates of nicotine metabolism

Genomics (9 decks)

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