Medical Genetics in the Clinic

Question 1

Describe the roles of different staff in the genetics clinic.

Answer 1

Genetic counsellors
Clinical geneticists
Hospital doctors
GP
Nurse

All work to help individuals and their families understand the mechanisms of their genetic problems.

Question 2

Describe the general principles of methods for testing of DNA.

Answer 2

The chromosomes are analysed; karyocytes or microarrays (microarrays more precise and better method - reduction of time taken to interpret sequencing).
Some challenges seen with more adverse testing is separating the pathogenic from benign variation.
Identifying the sole cause rather than the risk factor.
Each genome has had more than 1/2 million variants.

Question 3

Describe the general principles of interpretation of genomic variation

Answer 3

Variants are very common in our genome.
They vary in scale - only some are clinically relevant.
Variants can be classified - 1,2,3,4,5 - with 1 being clearly not pathogenic and 5 being clearly pathogenic.

Question 4

Describe some challenges in genomic medicine.

Answer 4

Ethnicity
Duplicate entries
Phenotype availability
Commoner conditions harder.