The Future of Genomics in Healthcare Flashcards
What does genomic data capture?
Genetic sequence information and genetic variation from DNA
What are the reasons for newborn whole genome sequencing?
- Identify all possible genetic disorders needing immediate treatment for best outcome
- Avoid multiple tests over long time period ‘diagnostic odyssey’
- Provide on-going health information for the future
What are the reasons against newborn whole genome sequencing?
- Privacy
- Consent
- Log termL tech and knowledge likely to be improved in 10-20 years - how useful will current data be by then?
- Non-clinically relevant over-interpretation of the data
Describe the use of genomic data in inherited predisposition to disease
Genomic data can be used to:
- Diagnose rare genetic condition
- Explain why a person developed this conditio
- Give advice on prognosis
- Help with management
- Help predict whether a person is more likely to develop a common condition and offer screening, prevention, early detection
Describe the use of genomic data in pharmacogenomics
Genetic predispositions may alter the body’s response to certain medications e.g. pain relief etc.
Genomic data ensures the right drug can be given to the right patient at the right time
Describe the use of genomic data in precision medicine and targeted therapies
Using genomic data to understand the molecular pathways underlying disease that can help us target the aetiology of the disease
Main uses in cancer therapies currently
Describe the use of genomic data in infectious disease
Genomic data can enable us to:
- Tack transmission and evolution of infectious disease outbreaks
- Identify vaccine/antibiotic/drug resistance
- Identify host factors which influence severe response
- Understand the microbiome and it’s impact on human disease
- Identify genomes within environmental spaces
WGS of pathogen
- Transmission and evolution
- Bacterial resistance
WGS of host
- Susceptibility to infection
- Drug reactivity
Microbiome analysis
- Culture and sequencing 16S rRNA sequences
Metagenomics
- Environmental sampling
Describe the pathogen genome
- Evolution of the outbreak
- Viral origins
- Pandemic tracking
- Novel mutations
- Contagiousness: B
- For viruses: Vaccine effectiveness
- For bacteria: Antibiotic sensitivity
Describe the host genome
- High risk single gene variants/haplotypes
- Complex polygenic/multifactorial variants
- Environmental factors
- Political measures
- Inequality (poverty, racism)
What can cell free DNA be released by?
- Fetal cells
- Cancer cells
Describe the use of genomic data in liquid biopsies
Liquid biopsies:
- Circulating tumour DNA
- Deletion of specific mutations, or monitoring of quantity
- Screening
- Diagnosis
- Monitoring and relapse
- Post surgery
Detecting cell free DNA can allow:
- Fetal screening and diagonsis
- Cancer screening and diagnosis
What is gene therapy?
- Delivery of nucleic acid polymers (either DNA or RNA) into a patient’s cells as a drug to treat disease, including the replacement of a mutated gene with functional copy
- Gene editing allows us to change the genome and has many medical and scientific applications but raises the question of what are the ehtical and moral boundaries
Describe gene inhibition therapy
- Nucleic acids are introduced which blocks either a mutated gene or interferes with the activity of the protein it produces
- Used in conditions caused by the production of over-production of a gene product e.g. cancer caused by overactivity of an oncogene
Describe gene therapy for targeted killing of specific cells
Nucleic acids are inserted into a cell causing it to die or marking it for destruction by the body’s immune system
Used for diseases such as cancer which can be treated by killing groups of cells
What are the applications of CRISPR?
- Experimental disease models
- Correction or inactivation of deleterious mutations
- Introduction of protective mutations
- Addition of therapeutic transgenes
- Disruption of viral DNA
- Drug screening
What are the challenges of gene therapy?
- Delivery
- Viruses
- Nanoparticles- Efficacy
- Off target effects
- Ethical impilications
