Genomic Tech Flashcards
What is the use of genomic data in healthcare
Screening, diagnosis, prevention, management
Medication, symptoms relief, targeted therapies, cancer management
What are some examples of rare gene disorders
Achondroplasia - point mutation
Huntington’s Disease - triplet repeat disorder
How is SNP genotyping used for common/complex polygenic/multifactorial disorders
SNP genotyping made to find associations
If a collection of SNP’s is found, you are more likely to get the condition
Used for stratified prevention to target resources to higher risk groups
What are some clinical examples of pharmacogenomics
Treating a patient according to THEIR genome
Abacavir (HIV) and HLA-B*5701
Causes immune mediated hypersensitivity
Thiopurines (myasthenia gravis) and thiopurine S-methyltransferase (TPMT)
Causes life-threatening myelosuppression
Warfarin sensitivity - complex with diet and genetic differences
Opioid sensitivity
Why are targeted therapies important
Understanding the molecular pathways underlying disease can help us target the aetiology of the disease
Treating an individual according to the DISEASE cause
What are the main uses of targeted therapies
Main uses in cancer therapies currently
Using mutational signatures to hypothesise cause and find treatment to target that
E.g. signature 3 in ovarian cancer indicating HR deficiency
Finding the genomic change in a cancer
What is a PARP inhibitor
PARP inhibitors - synthetic lethality
As HR repair fails, base excision repair via PARP helps the cell to survive
PARP inhibitors prevent the cancer cell from surviving
What is the use of cell free DNA in foetal medicine
Testing Cell free foetal DNA
If father has a gene but mother doesn’t, if the cell free DNA (mix of foetus and mother) has that gene, it is clearly from the foetus
Non-invasive prenatal testing/diagnosis
NIPT for trisomy screening
NIPD for known pathogenic variants in certain circumstances
What is the use of liquid biopsies
Circulating tumour DNA
Detection of specific mutations, or monitoring of quantity
Screening, diagnosis, monitoring and relapse, post-surgery monitoring
Why investigate a pathogen genome
Evolution of the outbreak
Track viral origins
Pandemic tracking
Novel mutations
Contagiousness and severity
Viruses - vaccine effectiveness
Bacteria - antibiotic sensitivity
Why investigate a host genome
Understand why some are more effected than others
Find high risk gene variants/haplotypes
Complex polygenic/multifactorial variants
Environment including political measures, inequality, poverty and racism
How likely is someone to be exposed to the virus due to their circumstances
Find biological pathways that can show pathways to new treatments
What were the findings of the host genome and COVID-19
COVID-19 - genomic regions identified impacting severity of tissue
Involved in immune regulation
Neanderthal chromosome haplotype section
What is the importance of the gut microbiome
These can influence disease in many ways e.g. mental health, anxiety, autism
Digestion of food, toxins and drugs
More diverse microbiome = better for health
Too much meat/processed meat have an impact on generation of antibiotic resistance
How is technology used to investigate microorganisms and disease
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
What is gene therapy
• The 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
KO or silencing overactive gene e.g. oncogene
