Session 10: Personalised Medicine I Flashcards
What is personalised medicine?
Uses information about each individual’s genetic material to tailor therapy with best response and highest safety margin to ensure better patient care
What are the benefits of personalised medicine?
- Earlier diagnosis
- Risk assessment
- Optimal treatment
- Improves healthcare
- Lowers costs
What are the P’s of personalised medicine?
1) Prediction & prevention of disease: Identification of high-risk people before onset of symptoms to better inform lifestyle changes and reduce burden of disease/costs. Preventative measures can be taken.
2) Precise diagnoses: When paired with improved imaging technology, better knowledge of an individual’s abnormality can inform better diagnoses which informs earlier and better treatment.
3) More participatory role for patients: Increased public awareness is the most powerful driver for personalised medicine.
4) Prevent adverse side effects: Variants in the genetic code can be used to predict potential adverse drug reactions, significantly reducing burden on NHS and improving patient experience.
Give an example of a disease with preventative treatment for cardiovascular events.
Familial hypercholesterolemia (FH): An inexpensive medication can be given to people as a preventative measure for cardiovascular events.
What is an example of a new/improved imaging technique that provides a more precise diagnosis?
Multiparametric MRI: Used for prostate cancer classification of tumours volume/size/dynamic of growth/typical markers for malignancy and invasion of other organs.
Spectroscopy: Used to differentiate between lesions and inflammation on a molecular level.
What is an example of a drug used to treat HIV that requires a genomic test prior to use?
Abacavir: First-line treatment for HIV that 1/17 people have a fatal adverse reaction. Patients have a specific genomic test before taking this drug which identifies those who could be allergic, reducing pressure on NHS.
Why is cost-effective healthcare (personalised medicine) important?
1) Reduced trial-and-error dosing of medicines
2) Reduced hospitalisations due to adverse drug reactions
3) Reduced late diagnoses
How many people did the 100,000 Genome Project sequence DNA from?
85,000 people
What are the classifications of genetic variants on a five-point scale?
1) Pathogenic variant
2) Likely pathogenic variant
3) Variant of uncertain significance (VUS)
4) Likely benign variant
5) Benign variant
What type of disease is cancer?
Heterogeneous
What is a biomarker?
Biological molecule found in blood, body fluids, or tissues that indicates a normal or abnormal process or condition/disease, e.g., cancer.
Give examples of bodily fluids in which biomarkers can be found.
- Circulation = whole blood, serum, plasma
- Excretions/secretions = stool, urine, sputum, nipple discharge
- Tissue-derived = biopsy
Genetic biomarkers can be ___ or somatic.
Inherited
Give an example of a cancer biomarker used to estimate the risk of developing a specific type of cancer.
BRCA1 germline mutation for breast/ovarian cancer
Give an example of a cancer biomarker used for screening for prostate cancer.
Prostate Specific Antigen (PSA)
Give an example of a technique used for differential diagnosis of cancer.
Immunohistochemistry to identify the tissue of origin
Give an example of a cancer biomarker used to predict response to cancer therapy/treatment.
- K-ras mutation and anti-EGFR antibody = colorectal cancer
- HER2 expression and anti-HER2 therapy = breast & gastric cancer
- ER (estrogen receptor) expression = breast cancer
Give an example of a cancer biomarker that monitors for disease recurrence in colorectal cancer.
Carcinoembryonic antigen (CEA) test for colorectal cancer
What are the five main intrinsic/molecular subtypes of breast cancer?
1) Luminal A (best prognosis)
2) Normal-like
3) Luminal-B
4) HER2-enriched
5) Triple negative (worst prognosis)
What is the breast cancer subtype with the best prognosis?
Luminal A: HR+, ER+ and/or PR+, HER-
What is the breast cancer subtype with the worst prognosis?
Triple Negative: HR-, ER-, PR-, HER2-
Which breast cancer subtypes respond to Tamoxifen?
1) Luminal A
2) Normal-like
3) Luminal B
Which breast cancer subtype responds to Herceptin?
HER2-enriched
Which breast cancer subtype has the highest association to BRCA1?
Triple Negative
