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Personalised Medicine > Consumers > Flashcards

Consumers Flashcards

1
Q

What is 2 components of personalised medicine

A

Coupling established clinical-pathological indeces (signs/symptoms/imaging/biochemistry)

With

Molecular profiling
(profiling genes, cellular metabolism, protein signalling, disturbances in homeostasis)

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2
Q

How does POC testing help achieve personalised medicine

A

Diagnosis is quick and timely - no matter the setting to enable quicker point of care diagnosis

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3
Q

What is the generic standard care

A

Diagnostic triage - signs/symptoms/history

Treatment - generic guidance e.g. infectious diseases = broad spectrum antibiotic effective against gram negative bacteria

Patient monitoring,diagnostic confirmatory tests etc.

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4
Q

What is the INNOVA

A

Antigen test used to detect SARS-COV-2

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5
Q

What drives and enables the use of point of care testing to achieve personalised care

A

Drives
Clinical need
Utility - to change outcomes, reduced epidemiological burden

Enables
Technology - microfluidics and miniaturisation for rapid testing
Wireless communications

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6
Q

What are the requirements for a point of care test

A

Low cost or high return (cost effectiveness)

Rapid

Clear diagnostic threshold

Actionable

Simple

Match the gold standard

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7
Q

What are the 4 measurements of a good assay

A

If you give a group of just + or - how many people can they actually detect
Sensitivity (true positive rate)
Specificity (true negative rate)

Positive predictive value (PPV) - true positives divided by all positives found
Negative predictive value (NPV) - true negatives divided by all negatives
These are both linked to prevalence

As prevalence creases PPV decreases (more false positives) but NPV increases

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8
Q

What are some examples of point of care tests

A

Cholesterol finger prick

UTI’s and urinary dip stick

Lateral flow devices including COVID and pregnancy tests

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9
Q

What are nucleic acid amplification tests

A

PCR is one technique

The tests combine processing and testing in a single cartridge

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10
Q

Describe the use of the urinary dipstick

A

Urinary dip stick - performed In the home, primary and secondary care setting

Typically several tests are performed on one stick detecting multiple analytes
For example glucose, protein, blood, nitrite, and leukocyte esterase etc.

Commonly used to determine :
Bacteriuria – bacterial presence in the urine or
Pyruria – abnormal white cell presence in urine

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11
Q

Why does the urinary dipstick measure multiple things and why is this beneficial

A

Individually blood, nitrite, and leukocyte esterase have sensitivity from 23% up to 64% although the blood test on its own isn’t diagnostic of only bacterial infection

Any two of these combined then has a sensitivity of 74% providing greater diagnostic value

Determine between differential diagnoses

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12
Q

Describe lateral flow devices

A

Device used anywhere
Compatible with multiple analyte types e.g. antigens or antibodies

These analytes are carried through a membrane by a buffered solution via capillary action

These combine with labelled molecules and capture molecules (antibodies)

Concentration of the labels give rise to colour

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13
Q

Describe how the INNOVA device works

A

It is a lateral flow device where the sample is applied to the buffered solution which is wicked by capillary action

It flows over pads which capture and label the molecules e.g. by colloid gold

The reactants disolve so only labelled analyte is left, and additional molecules bind the control and test bringing a rise to colour in the test sample

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14
Q

What are the positives of INNOVA lateral flow testing

A

It’s cheap, easy to develop and mass produce

It’s simple and easy to use avoiding user errors

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15
Q

What are the disadvantages of INNOVA lateral flow testing

A

Lower sensitivity especially at lower viral loads typified by asymptomatic individuals
LFTs generally have limited applications because of the sensitivity and type analytes they can detect

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16
Q

What are the analytes of lateral flow tests

A

Antibodies, antigens and, uncommonly, nucleic acids

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17
Q

What mechanism is lateral flow nucleic acid tests based on

A

Complementarity of nucleic acid sequences

Hybridisation and detection of a captured duplex molecules
Hybridisation also allows for some amplification of the signal but not through amplification of the target molecule so sensitivity still does not match NAATs

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18
Q

What do HIV seroconversion lateral flow tests test for

A

Example = BioSURE

Tests for HIV antibody

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19
Q

What technologies facilitate advances in rapid point of care testing

A

Smart materials - nanomaterials, nanowires, paramagnetic beads

Miniaturisation -microfluidics and microelectronic machines (MEMs)

Microelectronic detection - electrochemical and fluorescent detectors

Disposable cartridges - facilitates modular assay design

Low power requirement

Smart devices/wireless

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20
Q

What does the GeneXpert do

A

This desk top system has off the shelf real-time PCR assays

Its capable of performing
Detection – presence or absence?
Quantification – measuring bacterial or viral load?
Variant detection –predicting antibiotic resistance?

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21
Q

What instruments are in the GeneXpert

A

The instrument comprises of simple microfluidic cartridge allows non-expert handling and containment

Modular system offers flexibility , extensibility

Each cartridge processes a different assay and sample

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22
Q

What are the benefits of GeneXpert

A

Sample processing integrated within the cartridge making it useable for non-expert operators

The small reaction volumes provide speed and While-U-Wait processing of less than 90min

The connectivity and user interface enables and easy to understand and actionable results

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23
Q

What is the bink IO system for STI’s

A

Similar to GeneXpert also based on microfluidic cartridges

It can perform 24 NAATs on a single sample - saves time and repeat sample collection

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24
Q

How does the binx IO system work in contrast to the GeneXpert system

A

• It uses microelectronic detection rather than traditional fluorescent detection like the cephid

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25
Q

Give some examples of direct to consumer testing companies

A

DNA testing - these include 23 and Me, AncestryDNA

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26
Q

What is genetic testing

A

Determining which variant, or variants, a person has

Giving advice on the basis of what the current state of knowledge is about those variants

Brings about ethical issues, and what it may mean to someone without a genetics BG

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27
Q

What are the different levels of detail of genetic testing

A

Single gene
Gene panel
WES
WGS

28
Q

What can genetic tests be used for

A

Diagnose disease, and the factors that may have causes your disease as well as other risk factors

Predict how severe it may be, and the best medicine/dose

Find genetic factors that can be passed onto children, and screening of newborns

29
Q

Briefly describe gene panels

A

Gene panel testing is carried out using NGS to screen for variants in 10s-100s of genes

WES may supersede gene panel testing as this is becoming cheaper
Commonly used in cancer

30
Q

Briefly describe genome wide testing methods

A

Microarray based - SNP’s and CNV’s
Only looks for known mutations

NGS - WES and WGS
As NGS becomes cheaper it will become the preferred technique

31
Q

What are some examples of single gene/variant tests

A

Haemoglobin for haemoglobinopathies

Many enzymes for metabolic disease

CFTR for cystic fibrosis

BRCA1/2 for breast and ovarian cancer

HTT for Huntington’s disease

32
Q

What clinical features do some DTC companies test for

A

23 and Me screen for carrier status (heterozygote) of 42 rare diseases

Cystic fibrosis, phenylketonuria, sickle cell anaemia

Carrier because disease should be evident in people homozygous for disease-causing variants

Uses include family planning and informing future treatment e.g. in sickle cell anaemia for heterozygotes

33
Q

What is the drawback to DTC cancer risk assessments

A

23 and Me test for only 3 of 1000s of BRCA mutations, which only appear in Ashkenazi Jewish populations

BRCA1 - 185delAG and 5382insC
BRCA2 - 6174delT

And they account for ~10% breast cancer and 15% of ovarian cancer

34
Q

Describe ApoE testing

A

Alzheimer risk increases with ApoE 4

23 and Me users can opt out - ethical issues with being told life changing information without further support

35
Q

List two uses of non clinical DTC test

A

Paternity and ancestry and other ‘fun genomics’ (eye colour, bitter taste, alcohol flush), health and fitness, animals

36
Q

What are some of the terms and conditions of DTC

A
  • Genetic info is permanent and has implications
  • New info can arise in future
  • You may learn things you do not anticipate which may have social, legal and economical implication
  • Lab may not be able to process/there may be errors
  • You shouldn’t change your behaviours solely on DTC info
  • Genetic research is not comprehensive
37
Q

Positives of DTC testing

A
  • Patient choice/right/empowerment
  • Not on record (insurance issues)
  • Encourage planning for future/lifestyle changes/treatment
  • Regularly updated and accessible info
38
Q

Negatives of DTC testing

A

Incidental findings

Radical lifestyle changes may follow - take on or abandon healthy lifestyles

Distress for finding risk for a disease, without treatment

Your results may affects others in the family

Environment is very important in common disease risk variants

Literature changes all the time
Good company would ensure they would update the information, but not all do

Consumer protection
Hard to apply the law, so are consumers protecting enough

39
Q

Clinical concerns of DTC

A

Dr Google - clinicians having to sort out patient distress

Lack of genetic counselling

Patient ability to understand results - do they have the right level of education

Increases patient anxiety

Questionable clinical utility - is it actionable
If the doctor cannot help, this impacts the patient relationship

Not being able to answer patient questions
Taking information from various sources with questionable reliability

DTC may be advertising/bias for drug companies

40
Q

Consumer protection

A

Protection from ourselves, society, commercial interests - e.g. insurance, employers, and the nation state

41
Q

What defines an individual

A

Personal data – information identifying a person

Personal sensitive data – information about an individual including health records

42
Q

What are the UK acts for data protection

A

UK = 1998 Data Protection Act, 2018 General Data Protection Act

43
Q

What are examples of information defining an individual in a health context

A

Their characteristics – age gender, social and behavioural metrics

These are biochemical, physiological and genetic

The results of tests that describes them

Their health and wellbeing past present and future

44
Q

How does GDPR define genetic data

A

“Personal data relating to the inherited or acquired genetic characteristics of a natural person which give unique information about the physiology or the health of that natural person and which result, in particular, from an analysis of a biological sample from the natural person in question”

45
Q

How does GDPR define health data

A

“Data concerning health” means personal data related to the physical or mental health of a natural person, including the provision of health care services, which reveal information about his/her health status

46
Q

Why is GDPR for health and genetic data important

A

To meet UN declaration of human rights - to be equal, without discrimination and have a standard of living for health and well-being and the right to access medical care and social services

47
Q

What do we need protection from in regards to DTC genetic testing

A

Quality, validity and utility, regulation

Legality and social norms - eugenics?

Psychological and physical harm - any follow up?

Discrimination - work, society, healthcare, insurance

48
Q

What types of discrimination may someone face

A

Chambers dictionary - unfair treatment of a person, racial group, minority, etc; based on prejudice

Insurers - rational vs irrational discrimination – rational personal predictive risk assessment based on risk an individual brings to the pool

Lawyers - legal vs illegal discrimination

Patients - differential/negation of treatment based on current, past health or their future health risk

49
Q

What is the stance on genetic infromation

A

It is wildly different and conflicting

These views are often influenced by socioeconomic deprivation, lack of national resources, immigration and globalisation

This conflict can lead to shifts in acceptability e.g. reproductive freedom

50
Q

Is there systematic evidence of genetic discrimination by insurers

A

Evidence is poor/limited/out of proportion to the intensity of debate and legislative attitudes

51
Q

What factors should be consider in regards to protections regarding genetic tests

A

Regulation of (genetic) test devices and tests also driven in part by biomedical ethics

Human Rights and Privacy - ownership of health information, concept of “genetic exceptionalism”

52
Q

Who drives regulation

A

Regulation is driven by biomedical ethics or bioethics

The accepted norms of societal behaviour

Universal Declaration on Bioethics and Human Rights (2005)

53
Q

What is the minimum legislative framework

A

In Vitro Diagnostic Device Directive (IVDD 1998)

54
Q

What does the In Vitro Diagnostic Device Directive (IVDD 1998) regulate

A

Regulates test methods and equipment

Not whether conclusions or medical advice drawn from the results benefit the consumer

Applies to commercial genetic tests for health purposes only

55
Q

What are the exemptions within the IVDD

A

Exemptions:

“in house” or Laboratory Diagnostic Tests (LDTs)
Enables flexibility for introducing and developing tests in local healthcare systems

“non-health related” and direct to consumer tests e.g. 23 and Me

56
Q

What is the UK volunatry regulatory agreements

A

• Clinical Pathology Accreditation UK Ltd scheme and other voluntary schemes (that NHS REQUIRE)
and
UK Genetic testing network

57
Q

What does the Clinical Pathology Accreditation UK Ltd scheme do

A

Ensures regular inspection and quality of laboratory service

Does not apply to the clinical efficacy or interpretation of the results

58
Q

What does the UK genetic testing network do

A

Advisory organisation that provides commissioning support to the NHS and DH on behalf of NHS patients in the UK

Promotes quality and equality of access across the NHS

59
Q

What are the bioethics regulations

A

• Council of Europe Convention on Human Rights and Biomedicine (1997,2008)

60
Q

What does the Council of Europe Convention on Human Rights and Biomedicine (1997,2008) regulate

A

Legally binding to signatories, requiring parliamentary ratification and passing into national law

Applies to tests for ‘health purposes’ includes specifically genetic tests and services

Does not apply to DTC as it is ‘not for health’
Requires that these are of appropriate quality, validity and utility

Not ratified in UK, ROI, Germany etc.

61
Q

Who are the consumers most concerned about when it comes to their privacy

A

The privacy from employers, insurers, and the government - less so from commercial entities

62
Q

What are international regulations for privacy in health infromation

A

Rights defined by UN Human Rights Act 1948 and subsequent Acts, Conventions and Treaties

Treaty of Functioning of the EU 1958
EU Charter of Fundamental Rights 2010/12
European Convention on Human Rights 1953 and Biomedicine was added 1997, 2008 (articles 7 and 12) – specifically refers to genetic testing

European legislation is a framework with national exemptions and extensions
Council of Europe Recommendations of 1997
Health and genetic data handling, it defines autonomy, incidental findings and privacy

63
Q

What is the bioethic regulation on genetic data

A

International Declaration on the Human Genome and Human Rights (1997)

Declaration on Human Genetic Data (2003) Article 4

These specifically cites genetic data - no one should be subject to genetic discrimination because it may be predictive, have impact and significance at all levels of society

64
Q

What legislations define ownership of health information and data protection

A

Data Protection Directive (DPD 1995) concerns protection of individuals, privacy and the movement of personal information
Refers to health-related information
Allows for limited derogation (lowering) of the rules on privacy applies for societal protection, health insurance, governmental functions etc

General Data Protection Regulation (GDPR 2016)
Specifically include genetic data and advances in technology in a new directive

65
Q

What legislations may insurance companies be bound to

A

Voluntary Concordat (2005) and Moratorium (2001-2018, rolling code of practice from 2018)

Association of British Insurers (ABI) has operated a moratorium on asking for and using results for predictive genetic tests of an individual or relative
Applies to any test diagnostic or predictive test, including DTC genetic tests, WGS as part of 100K Genomes Project

66
Q

What are the limitations of the legislations insurance companies are bound to

A

Does not apply to non-genetic predictive tests i.e. someone who is asymptomatic or where a test provides predictive benefit excluding a condition for an individual
Nor diagnostic tests
If the genetic condition is diagnosed, it is not protected

Exemptions and conditions apply e.g. specific tests Huntington’s Disease or above a specific insurance of value

Personalised Medicine (9 decks)

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