Careers in genetics and genomics

Health professionals and researchers with skills in genetics and genomics are helping patients and families benefit from the advances in genetic and genomic science.

Some conditions are known to be inherited and follow Mendel's rules of inheritance.  Individuals and families with such  inherited conditions may benefit from precise diagnosis, information about their condition and how it is inherited, and genetic testing to find the precise cause of their condition. . They may value support whilst they consider the implications for themselves and other family members.  Families with inherited conditions are seen in all specialties.  They may also be referred to the specialist genetic services.  A "genetic test" is often a targeted test, analysing a particular gene or group of genes thought to be likely to be associated with a medical condition, or examining chromosomes. The results of the genetic testing may suggest a specific therapy

Advances in genomic technologies however have resulted in being able to read the entire sequence of a person's DNA, and then to interrogate this sequence to find alterations which might be associated with medical conditions (including Mendelian conditions), common traits or susceptibility to disease or reaction to particular groups of drugs.  Such assays produce an enormous amount of data for each individual which has to be analysed, and interpreted. Originally, sequencing an entire genome was carried out in research settings but several projects are assessing the value of adopting this technique into clinical service.  It  can be challenging to determine whether variants found through whole genome sequencing are clinically actionable.   

As can be appreciated, a range of skills is needed by the staff providing genetic and genomic services for patients, and to undertake research.  For the NHS, training is provided in genetics and genomics for healthcare professionals in mainstream specialties, and specialist clinical and scientific staff in the regional genetics services who provide these services. 

The roles in the specialist services include genetic counsellors, clinical geneticists, genetic technologists, clinical scientists and bio-informaticians.  The links below give information about the these roles and the training pathways for them.