Research and innovation


As a fast-developing specialty, research is central to the development of high-quality and clinical genetics services. Collaboration between clinical genetics centres has been key to the success of studies of rare diseases such as the DDD study on deciphering developmental disorders.  

Research activities include clinical studies of genetic disorders or phenotypes and the identification of causative genes and genetic mechanisms. Basic science discoveries translate quickly into new diagnostic genetic testing and altered management (treatment or screening).

  • Genetics has a growing portfolio within a Comprehensive Local Research Network as part of the National Institute for Healthcare Research (NIHR) Specialty Group coordinating recruitment across the UK.
  • It is considered essential for all consultants to participate in recruitment to multicentre studies in order to secure adequate numbers of patients and ensure equitable access to research studies for patients. Currently, many clinical genetics departments are recruiting patients to the 100,000 genomes project.
  • Clinical academics (university or NHS employees) usually conduct their own clinical and laboratory projects as well as actively recruiting patients for national and international studies. 


Rapid introduction of new genetic technologies and new genetic information can profoundly alter the care offered to patients, and consultants need to engage fully with research and innovation at a local and national level. 

Thirteen new Genomic Medicine Centres will oversee the development of personalised medicine with clinical genetics, leading the integration of genomics into healthcare across the NHS. Similar initiatives are expected for Scotland and Wales.

Clinical geneticists play a key role in supporting genetic laboratory service development, in particular the development of new genetic testing through the introduction of novel technologies such as array comparative genomic hybridisation (CGH), multi-gene panels or exome sequencing. Clinical genetics works with the labs to produce portfolios for submission to the UK Genetic Testing Network for recognition and approval for NHS care.

Examples of clinical innovation include development of new care pathways and working with mainstream specialties to integrate genetics and genomics into routine care. Examples include replacing invasive neurological investigations with gene panel testing and cardiac gene testing to target screening at high-risk patients only.