Clinical Genetics 2 Flashcards
What is genomic medicine also called?
Personalised medicine
What large factor influences disease risk apart from genetics?
Environment
What can advising people to take tests based on probability lead to?
Unnecessary tests and potentially false positive results
What lifestyle changes could have a more significant impact on disease than targeting specific mutations?
Losing weight, exercising, drinking less alcohol, smoking less
What does pharmacogenomics study?
How patients will respond to certain drugs
How can genetics influence medical treatment?
It can influence both risk of disease and effectiveness of treatment
What is a significant variation in drug response among individuals attributed to?
Genetic variation
Name a drug prescribed based on genetic profiles for chronic myelogenous leukaemia.
Imatinib (Gleevec)
Which gene is associated with breast cancer treatment using trastuzumab?
HER-2 receptor
What is the impact of VKORC1 gene variations on warfarin dosage?
Warfarin prescribed at lower or higher dose depending on specific genetic variants
What type of genetic testing was historically focused on?
Analyzing one or a few genes indicated by a patient’s phenotype
What is the routine testing available for in genetic diseases?
Conditions like Cystic Fibrosis, cardiomyopathies, deafness
What is next-generation sequencing used for?
Studying gene panels of >500 commonly mutated genes
What type of sequencing is offered for patients with suspected genetic diseases of unknown cause?
Whole-exome sequencing
How many Mendelian diseases are estimated to exist worldwide?
7,500-8,000
What is a key characteristic of Mendelian diseases concerning causative mutations?
Having the causative mutation means it is highly likely an individual will have the disease
What is the leading cause of irreversible blindness worldwide?
Glaucoma
What is the aim of the 100,000 Genomes Project?
To provide new treatments and scientific knowledge by studying genomes
What types of genomes are being collected in the 100,000 Genomes Project?
- 25,000 cancer genomes
- 25,000 normal genomes
- 15,000 people with rare genetic diseases
- 35,000 genomes from healthy relatives
How many patients with rare diseases have had their genomes sequenced since 2015?
> 16,000 patients
What proportion of patients could researchers find a definitive mutation for that could direct treatment or lifestyle changes?
20-25%
What two factors have influenced the decision to use genomics in medicine now?
- The human genome sequence has been available for over 10 years
- The cost of sequencing has been steeply decreasing
What is the definition of genomic medicine?
An emerging medical discipline that involves using genomic information about an individual as part of their clinical care
What is a main concern regarding the use of genome sequencing in healthcare?
Privacy
Who could potentially have access to an individual’s genomic data?
- Healthcare workers
- Family members
- Law enforcement
- Employers
