Specialty spotlight – clinical genetics

Introduction to clinical genetics

Clinical genetics provides services for individuals and families with, or at risk of, conditions which have, or may have, a genetic basis. Genetic disorders affect at least 5% of the population and can affect any body organ or system and include: chromosomal abnormalities, rare single gene disorders, congenital abnormalities (including non-genetic and teratogenic anomalies), intellectual disability, familial cancer syndromes and common disorders with a single gene basis eg cancer, inherited cardiac conditions.

Clinical geneticists help individuals and families to understand their condition, its implications, and their options with regard to reproduction, screening, prevention and management. They diagnose genetic disorders, arrange and interpret genetic test results, assess and communicate genetic risks, provide information and appropriate counselling support.

Clinical genetic services work closely with genetics laboratories in Regional Genetics Centres (RGCs) and provide expert information and educational resources to other healthcare disciplines, participate in multi-disciplinary working with other medical specialties and contribute to research through clinical and laboratory genetic projects, and recruitment to national genomic studies and therapeutic trials.

The last decade has seen rapid progress in genetics and genomics with implementation of genetic technology into many areas of healthcare. Clinical genetics together with genetics laboratories leads the development of genetic and genomic services for the NHS through the Genomic Medicine Centres.

Training and working in clinical genetics

• Find more information on the training pathway from the Joint Royal Colleges of Physicians Training Board.
• Learn more about the recruitment and interview process at the ST3 recruitment page.

Clinical genetics resources

• Clinical Genetics Society (CGS)
• British Society for Genetic Medicine
• Genomics England
• National Institute for Health Research
• UK Genetic Testing Network
• Genetic Alliance
• Department of Health. Our inheritance, our future: realising the potential of genetics in the NHS. London: DH, 2003.
• Rare Disease UK. Improving lives, optimising resources – a vision for the UK Rare Disease Strategy. London: RDUK, 2011.
• The Human Genomics Strategy Group. Building on our inheritance: genomic technology in healthcare. London: HGSG, 2012.

RCP resources

• Consultant physicians working with patients – clinical genetics chapter (p59)
• Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information, 2nd edn. Report of the Joint Committee on Medical Genetics. London: RCP, RCPath, 2011.
• Clinical Medicine CME genetics articles (2014): 
  • Frayling T. Genome-wide association studies: the good, the bad and the ugly. Clin Med 2014;14:428–31. 
  • Sobey G. Ehlers–Danlos syndrome – a commonly misunderstood group of conditions. Clin Med 2014;14:432–6. 
  • Rahman N. Mainstreaming genetic testing of cancer predisposition genes. Clin Med 2014;14:436–9.
  • Maher E. Phaeochromocytoma and paraganglioma: next-generation sequencing and evolving Mendelian syndromes. Clin Med 2014;14:440–4.
• Clinical medicine articles:
  • Slade I, Subramanian D, Burton H. Genomics education for medical professionals – the current UK landscape. Clin Med 2016;16:347–52.
  • Shepherd M, Colclough K, Ellard S, Hattersley AT. Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care. Clin Med 2014;14:117–21.
  • Davies K. The era of genomic medicine. Clin Med 2013;13:594–601.  
  • Davies D. Tuberous sclerosis: from gene to targeted therapy. Clin Med 2012;12:s7–s10.
  • Book review: Gardner R, Sutherland G, Shaffer L. Chromosome abnormalities and genetic counseling: 4th edn. Clin Med 2012;12:297.
  • Lucassen A, Hall A. Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information. Clin Med 2012;12:5–6.
  • Hodgson S. Advances in cancer genetics. Clin Med 2009;9:151–3.
  • Burke S, Martyn M, Thomas H, Farndon P. The development of core learning outcomes relevant to clinical practice: identifying priority areas for  genetics education for non-genetics specialist registrars. Clin Med 2009;9:49–52. 
  • Donnai D. Advances in dysmorphology: from diagnosis to treatment. Clin Med 2009;9:154–155.
  • Ferguson-Smith M. Testing and screening for chromosome abnormalities. Clin Med 2009;9:153–154.
  • Kirkman M, Yu-Wai-Man P, Chinnery P. The clinical spectrum of mitochondrial genetic disorders. Clin Med 2008;8:601–6.

Historical highlights from the library, archive and museum collection

Speculation as to the nature of genetic inheritance and which illnesses are genetic in origin predated clinical genetics, as illustrated in the RCP library’s 1815 edition of A philosophical treatise on the hereditary peculiarities of the human race: with notes illustrative of the subject, particularly in gout, scrofula, and madness. The discovery of the molecular structure of DNA in 1953, that humans had 46 chromosomes in 1956, and the sequencing of the human genome in 2001 brought the field out of the realm of speculation and into that of diagnostic pathology. 

Read more about the history of clinical genetics though the lives of RCP fellows on the library, archive and museum blog.