the long view

Question 1

Define genomic medicine

Answer 1

Clinical application of genomics within healthcare

Question 2

What is the difference between genetics and genomics?

Answer 2

Genetics is the study of single gene disorders (1)

Genomics is the study of the entire DNA/genome (1) Together with technologies which allow sequencing/interpretation/analysis (1)

Question 3

What was the aim of the 100,000-genome project

Answer 3

To identify rare diseases (1)

Question 4

State two steps involved in the process of sequencing

Answer 4

Each is worth 1 mark:
• DNA sample extracted
• DNA sample prepared for whole genome sequencing
• DNA sequenced using NGS
• Software used to analyse data - bioinformatics
• Sequenced genome derived
- Genome sequence reassembled = sequence allignment.
• This genome is compared with reference genome to identify abnormalities
• These differences are then analysed/interpreted by professionals to determine if the gene being looked at is causative of a particular condition

Question 5

What is the difference between a pathogenic variant and benign variant?

Answer 5

Both are an alteration in genetic sequence (1)
A pathogenic variant increases an individual’s susceptibility/predisposition to a certain disorder (1)
A benign variant is not disease causing (1)

Question 6

what is a variant of unkown significance?

Answer 6

A variation in a genetic sequence whose association with disease risk is
unknown.

Question 7

‘The role of the GP in

Genomic Medicine’

Answer 7

• To take and consider a family history in order to identify families with, or at risk of, genetic conditions and familial clusters of common conditions such as cancer, CVD and diabetes
• Identify patients and families who would benefit from being referred to appropriate specialist services
• Manage the day-to-day care of patients with genetic conditions
• Co-ordinate care across services
• Communicate information about genetics and genomics, including discussing results from neonatal and new-born screening programmes

Question 8

Emerging issues in genomic medicine

Answer 8

Tailoring genomic information in diagnosis and
tailored management
○ How genomic information can contribute to
managing complex condition

Question 9

Role of the GP

Answer 9

• communicate information about genomics
  ○ Assessing genetic risk

as access to genomic testing increases. By
direct to consumer testing from commercial
companies-
● patients and relatives will turn to their GP for
discussion and advice and GPs must be aware of
the implications of this

Question 10

what are DTC genetic tests and what is the problem?

Answer 10

Sold online
○ Sold in shops
○ Provide ancestry data
○ Provide health and disease data 
○ Personality traits 
● What is the problem?
○ Complex, False negatives and positives
○ May consult with the NHS

Question 11

Health information from DTC tests

Answer 11

○ Polygenic risk scores
○ Specific genotypes e.g BRCA and breast cancer
○ Carrier screening
○ Raw genetic data and then independent analysis

Question 12

benefits of genetic profiling Over the counter testing

Answer 12

• More information
• allows early intervention
• allows more personal control
• possibility of saving public healthcare resources if
testing and treatment conducted privately
• can alert relatives to important genetic conditions

Question 13

Potential harms of genetic profiling

Answer 13

• The test results can be unreliable and difficult to interpret
• ‘Good’ results may lead to complacency in lifestyle
• Learning about risk of disease could be upsetting, particularly
if no treatments are available
• There is potential for misuse of personal genetic information
• People may seek unnecessary further tests or advice from
their doctor

Question 14

why is pharmacognomics important?

Answer 14

– Prescribing safely
• An average GP authorises 200 repeat prescriptions each week
– Manage Multimorbidity and Polypharmacy
• GPs have an average of 41.5 patients a day – higher than the 25 recommended as safe by European GPs
– Promote Patient adherence (Approximately 50% of all GP appointments are for patients with long term conditions)
– Because we have :
• Decision support/the Electronic Health Record (EHR)

Question 15

Demographic change and future models
of care
RCGP 2022 vision for General Practice –challenges

Answer 15

• Complexity health and social care, multimorbidity
• Complex care in the community
• Costs against quality of care
• Service fragmentation
• Health prevention
• Health inequalities
• However delivery will change due to COVID

Question 16

disruptors in primary care

Answer 16

• Covid
• Technology
• NHS worforce

Question 17

Innovation in healthcare – PreCovid

Answer 17

• The emerging models of online consulting are lacking rigorous,
independent research evidence about their cost effectiveness or
adverse consequences from a UK general practice setting.
• (Marshall et al 2018)
• Technology is highly culturally dependent so the relevance of
international evidence is questionable. Some commentators ask
whether conventional approaches to evaluation, particularly ones
focused on linking rapidly changing interventions to health
outcomes, are incompatible with or, by stifling innovation, possibly
detrimental to a fast moving innovation culture. Marshall et al, 2018

Question 18

Covid and Remote access

Answer 18

•Most online consultations are conducted during normal general
practice opening hours
•Online resources are most commonly used for administrative
purposes (repeat prescriptions, test results, fitness-to-work
notes).
•Musculoskeletal conditions and infections are the most common
clinical reason for consulting
•Online consultations are more effective for discrete and
straightforward problems and less effective for complex issues

Question 19

•What is the future role of remote consultations and patient
triage?

Answer 19

General practice:

• Has evolved to now generate, capture and
access large quantities of data;
• Additionally the rise in multidisciplinary
teams is changing the
• Tasks involved in care provision,
introducing an increasingly diverse
• Range of skills and skilled staff into the
practice.

Question 20

What is AI?

Answer 20

• Any software with decision making capability
• Automated software with decision making capability
• Self learning software with decision making capability

Question 21

What is the value of AI in primary care

Answer 21

•Simplify current workflows
•Automate certain backend functions through task substitution.
•In the short term this can release capacity for healthcare
professionals.
•In the longer term there is potential for AI to greatly change existing
working patterns.

Question 22

Risks associated with the use of AI

Answer 22

•In healthcare are well documented and encompass unintended harm
as a result of reliability, safety, privacy, transparency and inbuilt
system biases;
•As well as intended harm through malicious use of AI and
compromised data.
•Systems need to be appropriately regulated and quality approved to
•mitigate these risks.

Question 23

NHS and the workforce during the

pandemic

Answer 23

• Priorites such as PPE provision for Covid
• Morale
• Ethnicity
• Filling the gap- reduced opportunity for overseas staff
• Fatigue
• Harsh working environments