Ethics of genomics medicine

Question 1

What are genetic tests?

Answer 1

Analysis of human DNA, RNA, chromosomes, proteins and metabolites to detect heritable diseases and related genotypes, phenotypes or karyotypes

Question 2

What is important the patients understand before carrying out a genetic test?

Answer 2

Testing procedure

Benefits and limitations of the test

Possible consequences of the test results

Question 3

What are the limitations of genetic tests?

Answer 3

Test risk factors, not diagnostic

Question 4

What are possible consequences of genetic tests?

Answer 4

Finding information regarding heritable diseases or being adopted

Question 5

What are predictive genetic tests?

Answer 5

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

Question 6

What are the two types of predictive genetic tests

Answer 6

Pre symptomatic testing

Susceptibility testing

Question 7

How many genetic counsellors are found nationally?

Answer 7

Around 400

In short supply

Question 8

What is a susceptibility test?

Answer 8

Involves looking for genetic mutations that confer a higher risk for developing disease

Disorders are usually multifactorial

Question 9

Examples of susceptibility testing

Answer 9

Apo-E4 for Alzheimers

BRCA1/2 for breast cancer

Question 10

What is the Angelina Jolie effect?

Answer 10

Describes how her genetic results and subsequent double mastectomy increased interest in genetic testing for breast cancer

Question 11

What is carrier testing?

Answer 11

Identifies individuals who do not have a particular disease but who are at risk of having a child with a particular disease

Question 12

What is the difference between carrier testing and carrier screening?

Answer 12

Carrier testing involves individuals known to be at high risk because of family history

Carrier screening involves individuals with no family history

Question 13

Common heritable conditions with high social cost

Answer 13

Tay Sachs

Sickle cell anaemia

Cystic fibrosis

Question 14

Scenario for carrier testing

Answer 14

Testing a woman with a siste who has cystic fibrosis

Question 15

Scenario for carrier screening

Answer 15

Caucasian women of child bearing age can be tested for cystic fibrosis

Question 16

How can race-related conditions be problematic?

Answer 16

Mutations for certain diseases with higher prevalence in certain ethnic populations raises the issue of stigmatization of the race

Question 17

What is prenatal testing?

Answer 17

Involves testing the foetus prior to birth in order to identify genetic mutations that may cause disease

Question 18

What is the goal of prenatal testing?

Answer 18

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

Question 19

Examples of genetic conditions tested for through NIPT

Answer 19

Downs syndrome

Neural tube defect

Question 20

What was a recent new law regarding testing for trisomy 21?

Answer 20

New law passed to screen all women for trisomy 21

Before restricted to women above a particular age

Question 21

What is the difference between PGP and 23 and Me?

Answer 21

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

Question 22

What risks regarding personalised genomic technologies are consumers unaware of?

Answer 22

What does your genome say about you?

What can people find out through your genome?

Question 23

Study by Erlich

Answer 23

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

1. Inferred the men’s Y-chromosome through short tandem data
2. Searched the Y-chromosome databases to find linked last names
3. Searched public record databases to find men with correct age, right location and similar family trees

Question 24

What did Erlich’s study show?

Answer 24

Protecting anonimity when obtaining patient data is almost impossible with new re-identification mechanisms

Question 25

Study by Human Longevity

Answer 25

Can predict someone’s face using their genomic sequencing

DNA matched 8 out of 10 faces

Question 26

2 ethical problems when carrying out genomic tests

Answer 26

Discrimination

Accidental findings

Question 27

Describe how genomic information can predispose someone to be discriminated against

Answer 27

Individuals can receive discrimination from insurance companies, law enforcement and employers based on genomic information

Question 28

What is the Affordable Care Act?

Answer 28

A law that prohibits insurers from discriminating against persons with pre-existing conditions

Question 29

What is GINA?

Answer 29

Genetic information nondiscrimination act

Signed into law in 2008

Prohibits insurance companies from discriminating people based on their genomic profile

Question 30

Which branch of the government does not have to abide by GINA?

Answer 30

Military

Question 31

Who have the greatest amount of genomic data stored in database?

Answer 31

Police

A DNA sample can be taken if a subject is charged with a crime and is subsequently destroyed if found innocent

Question 32

How are accidental findings tackled?

Answer 32

It is unknown how to tackle these issues appropriately

The genotype=phenotype, so it is likely that the genomic information gets it wrong

Question 33

What is the problem with accidental findings to the NHS?

Answer 33

High social cost

NHS resources have to be provided to the patient