Lecture 40 Flashcards
What is personal genomics and what role does it play in personalized medicine?
Concerned with sequencing and analysis of the genome of an individual; the individual’s genotype can be compared with the published literature to determine likelihood of trait expression and disease risk
What are the key factors in evaluating genetic tests?
Analytical sensitivity/specificity, clinical sensitivity/specificity, positive predictive/negative predictive value, clinical/personal utility
How has the FDA altered the way that 23andMe does business?
Once 23andMe started infringing on clinical value and reporting you were at risk of a disease and should take action, the FDA began regulating them as a medical device and restricting what information they can distribute
What does it mean if 23andMe says you have X% probability of developing a certain trait?
Means based on the data they have from people who have used 23andMe, and comparing your genes with genes that are associated with a trait, you have X% probability of developing that same trait
What is the significance of pharmacogenetic variants?
In the case of warfarin, variants can lead to someone metabolizing the drug more or less effective, which changes the dosage you should receive based on how quickly or slowly you metabolize the drug
Explain how individuals were identified who are resistant to severe mendelian disease
They had their DNA sequenced and they had the variants that should result in mendelian disease, but in fact a rare few had the variants but did not have the disease
How was DNA used to identify the Golden State Killer?
Publicly uploaded DNA by a distant relative of the Golden State Killer was matched to DNA found at the crime scenes
What is PPV and NPV?
PPV: likelihood that a patient has the disease given that the test result is +
NPV: likelihood that a patient does not have the disease given that the test result is -
What is clinical/personal utility?
Clinical Utility: value of the test for determining treatment, patient management, and family planning
Personal Utility: value of the test for personal and family choices
What is promethease and SNPedia?
Promethease: literature retrieval system that builds a personal DNA report based on the scientific literature cited in SNPedia and a file of genotype (DNA) data
SNPedia: wiki investigating human genetics; share information about the effects of variations in DNA, citing peer-reviewed scientific publications
