Specialisms | Genomics

As an STP trainee, I work in the genetics laboratory, where we carry out tests on patient’s genetic material to try and diagnose genetic disease. This can involve looking down the microscope at peoples’ chromosomes (cytogenetics) or testing DNA for mutations (molecular genetics). Molecular and Cytogenetics are becoming more and more intertwined, so as an STP in genetics/genomics you train in both. This can be quite a challenge as in many departments they are still very much separate, so you’ll have to manage your time well between the two! Clinical scientists in genetics are more like analysts, we don’t see patients face-to-face and hardly spend any time in the lab- our main role is to interpret the results that come out of the lab and write reports to the doctors and genetic counsellors, who then give the result to the patient.

1^st Year

In the 1^st year of training, you do four rotations- three of which are chosen for you, and one you get to choose yourself (depending on what is available in your location).

• Genetics
• Genetic Counselling
• Bioinformatics
• Any life sciences specialism e.g. Reproductive Science, Haematology, Biochemistry, Immunology, Microbiology

As genetic counselling and bioinformatics are so closely related to what we do, everybody does a rotation in both of them. I chose to do reproductive science as my fourth rotation, which was really interesting and actually more relevant to my specialism than I thought.

Specialist Modules

There are 4 specialist modules in genetics that you complete during your 2^nd and 3^rd year. These give you more in-depth training than the 1^st year rotations and are focused on the different types of testing we do in genetics/genomics:

Prenatal genomics

Prenatal testing is a large part of what we do in genetics. Often parents who are known to be carriers of a genetic disorder want to know during pregnancy if their child might be affected with the disease, this is known as prenatal diagnosis. Another part of prenatal genomics is testing for trisomies (e.g. Down’s Syndrome) during pregnancy, as part of the prenatal screening programme.

Paediatric genomics

This module covers testing for genetic diseases which present in childhood. These can include neuromuscular disorders, learning disabilities, epilepsy, birth defects and autism spectrum disorders.

Adult genomics

Testing in adults can involve diagnosing late-onset genetic diseases or testing for known mutations in family members of patients with a genetic disease. We also do risk calculations to estimate how likely it is that people (and their children) will inherit the family disease. A large part of adult genetic testing is for BRCA1 and 2 mutations, which can massively increase a patient’s risk of developing breast and ovarian cancer.

Genomics of sporadic cancers

In this module, instead of looking at the patient’s own DNA, we are looking at the DNA of tumour cells in patients with cancer. This can help determine what type of cancer it is, and what treatments are most likely to be effective in the patient.

You do all of this on top of lectures and exams at Manchester University, as well as a research project in 2^nd and 3^rd year, so time management is key. They are looking for enthusiastic scientists who have a genuine interest in genetics and healthcare. If that sounds like you then the STP in genomics could be the right specialism for you! If you are more interested in talking to patients than data interpretation, then see our page on Genomic Counselling, if you’re not sure you can always apply for both!