genetics

Question 1

What is the process of Direct to Consumer genetic testing?

Answer 1

1. saliva sample sent to company via post
2. DNA extracted and amplified
3. sample compared to a ‘SNP chip’ of lots of markers of disease
4. results are made available online

Question 2

What are the benefits of Direct to Consumer genetic testing?

Answer 2

Lifestyle changes, satisfies curiosity/reassures, may provide important clinical info, not required for insurance purposes (yet)

Question 3

What are the cons/problems with Direct to Consumer genetic testing?

Answer 3

High price (not equitable), GPs may not have time/skill to interpret results, individual genes often do not have a big impact on risk, misses gene-environment interactions, false reassurance, unregulated industry (Overall, usually should advise AGAINST getting these tests after informing patient of pros/cons)

Question 4

What is Genome Wide Association Scanning?

Answer 4

Compares the entire genomes of lots of participants who share a common phenotype (e.g. disease), and identifies variations that have a higher frequency than in the healthy population