the long view Flashcards
Define genomic medicine
Clinical application of genomics within healthcare
What is the difference between genetics and genomics?
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)
What was the aim of the 100,000-genome project
To identify rare diseases (1)
State two steps involved in the process of sequencing
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
What is the difference between a pathogenic variant and benign variant?
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)
what is a variant of unkown significance?
A variation in a genetic sequence whose association with disease risk is
unknown.
‘The role of the GP in
Genomic Medicine’
- 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
Emerging issues in genomic medicine
Tailoring genomic information in diagnosis and
tailored management
○ How genomic information can contribute to
managing complex condition
Role of the GP
- 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
what are DTC genetic tests and what is the problem?
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
Health information from DTC tests
○ Polygenic risk scores
○ Specific genotypes e.g BRCA and breast cancer
○ Carrier screening
○ Raw genetic data and then independent analysis
benefits of genetic profiling Over the counter testing
• 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
Potential harms of genetic profiling
• 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
why is pharmacognomics important?
– 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)
Demographic change and future models
of care
RCGP 2022 vision for General Practice –challenges
- 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
