Specialty spotlight – clinical genetics

Professor Ruth Newbury-Ecob, president of the UK Clinical Genetics Society, and Dr Lucy Bownass, specialty trainee at University Hospitals Bristol, discuss what clinical genetics involves and give advice on what is needed to succeed in the specialty.

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 geneticists help individuals and families to understand their condition, its implications, and their options with regard to reproduction, screening, prevention and management.

Professor Ruth Newbury-Ecob, president of the UK clinical genetics society

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

Clinical genetics resources

RCP resources

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.