Personalized medicine Flashcards
What gene is responsible for caffeine metabolism and what version of the gene metabolizes it the fastest?
CYP1A2 does, and the AA genotype is the fast metabolizer
What are the factors of caffeine consumption?
Multiple genes affect consumption, dependence, catabolism, and brain receptors
What was the cost of the first draft of the human genome (2020)?
1 dollar / nucleotide, a billion dollars (10^9)
What is the price now and given by which company?
Illumina claims it can sequence for 200 dollars, now Ultima quotes 100 dollars
How is a newborn screening test given?
It uses a dried blood sample during the first week
How many conditions are US newborns tested for?
30 but in some states 50
What is the dried blood spot sample variation in ontario?
A heel prick
Could genome sequencing be used for traditional newborn screening alternatives?
Yes
What is the GTR?
The genetic testing registry is a voluntary genetic test information bank
What is the role of the GTR?
It tests the effectiveness, purpose, validity, of the tests
-advance public research in genetics
What are the 4 main kit-offering services?
- 23 and me
- Ancestry DNA
- Myheritage
- FTDNA
Which kit company tests the most SNPs? (700k vs 654k)?
Ancestry DNA
Which kit companies have the highest databases?
Ancestry (19mil)
23 and ME (12 mil)
the rest under 5 mil
What are the two functions of an at home genetic test kit?
- Health information is derived
- Infers distant relationships (genetic genealogy)
What is the limitation of an at home genetic testing kit?
They are not designed to diagnose conditions
Why is 23 and me not initially allowed to market health-related genetic testing?
It did not provide sufficient evidence to support accuracy/reliability
What progressions have 23 and Me made in their product?
2015 was allowed to do some smaller health reports, over time it has expanded informal diagnosis criteria
What is an Illumina microarray made of?
Etched silica with microwells with oligonucleotide probes to target specific loci
How do hybridization DTC kits work?
probes bind to complementary sequences, they allow for base extensions on nucleotides that are laser activated to emit a label
What database is consulted by DTC kits for genetic variances associated with disease?
The ClinVar
What are H1 and H2 of the LR?
Likelihood ratio - how much is H1 favored
H1: Two individuals are cousins
H2: They are not cousins
What is the SS approach?
The segment stretch approach details that segments of DNA be measured for one of the two strands matching, and the longer the segment, the more likely the relation
What is the MoM estimator?
The method of moments estimator compares individual genotypes and summarizes them over SNPs. It is a statistical analysis
What kind of genetic testing is helpful in crime?
Genetic genealogy to match DNA to people - can also match traits eg. eye colour or skin colour
What are the bioethical issued associated with DTC kits? (7)
- Informed consent
- Privacy and Confidentiality of information
- Genetic discrimination
- Psychological impact
- Accuracy / Interpretation
- Impact on family members
- Commercialization of Data
What is the genetic branch of medicine called? (PM)
Personalized medicine
What new breakthrough is significant for the processing of genetic data?
AI
What kinds of care should patients have along with this genetic advancement?
Guidance- Understanding and support
Education - Extra information about specifics and tests
Counseling - Informed decision making
