Ethics of genomics medicine Flashcards
What are genetic tests?
Analysis of human DNA, RNA, chromosomes, proteins and metabolites to detect heritable diseases and related genotypes, phenotypes or karyotypes
What is important the patients understand before carrying out a genetic test?
Testing procedure
Benefits and limitations of the test
Possible consequences of the test results
What are the limitations of genetic tests?
Test risk factors, not diagnostic
What are possible consequences of genetic tests?
Finding information regarding heritable diseases or being adopted
What are predictive genetic tests?
Tests performed on healthy or apparently healthy individuals with the goal of identifying their risk of developing disease in the future
Allows to increase monitoring of the conditions
What are the two types of predictive genetic tests
Pre symptomatic testing
Susceptibility testing
How many genetic counsellors are found nationally?
Around 400
In short supply
What is a susceptibility test?
Involves looking for genetic mutations that confer a higher risk for developing disease
Disorders are usually multifactorial
Examples of susceptibility testing
Apo-E4 for Alzheimers
BRCA1/2 for breast cancer
What is the Angelina Jolie effect?
Describes how her genetic results and subsequent double mastectomy increased interest in genetic testing for breast cancer
What is carrier testing?
Identifies individuals who do not have a particular disease but who are at risk of having a child with a particular disease
What is the difference between carrier testing and carrier screening?
Carrier testing involves individuals known to be at high risk because of family history
Carrier screening involves individuals with no family history
Common heritable conditions with high social cost
Tay Sachs
Sickle cell anaemia
Cystic fibrosis
Scenario for carrier testing
Testing a woman with a siste who has cystic fibrosis
Scenario for carrier screening
Caucasian women of child bearing age can be tested for cystic fibrosis
How can race-related conditions be problematic?
Mutations for certain diseases with higher prevalence in certain ethnic populations raises the issue of stigmatization of the race
What is prenatal testing?
Involves testing the foetus prior to birth in order to identify genetic mutations that may cause disease
What is the goal of prenatal testing?
Aims to enable parents to have children they otherwise would not have been willing to because of fear of genetic disease
Through providing alternative routes
Examples of genetic conditions tested for through NIPT
Downs syndrome
Neural tube defect
What was a recent new law regarding testing for trisomy 21?
New law passed to screen all women for trisomy 21
Before restricted to women above a particular age
What is the difference between PGP and 23 and Me?
Both are personalised genomic companies
But PGP requires all participants to show appropriate education around the field of genomics in order to participate
PGP Canada also assists all test takers with genomic counsellors
What risks regarding personalised genomic technologies are consumers unaware of?
What does your genome say about you?
What can people find out through your genome?
Study by Erlich
Showed that it was possible to discover the identities of people who participate in research studies by cross-referencing their data with publicly available information
- Inferred the men’s Y-chromosome through short tandem data
- Searched the Y-chromosome databases to find linked last names
- Searched public record databases to find men with correct age, right location and similar family trees
What did Erlich’s study show?
Protecting anonimity when obtaining patient data is almost impossible with new re-identification mechanisms
