Specialty Profile: Clinical Genetics by ICSM Clinical Genetics

What is Clinical Genetics? 

Clinical Genetics is a branch of medicine which involves the diagnosis and management of hereditary disorders affecting patients and their family members. Unlike other specialities, clinical geneticists must directly deal with the whole family rather than a single patient alone. 

What do Clinical Geneticists do? 

Clinical geneticists give advice on: 

  • Genetic testing 
  • Diagnosis and appropriate management of genetic conditions 
  • Risk assessment of individuals and genetic counselling of family members 
  • Specialist advice about rare disorders 
  • Reproductive options e.g. the availability of prenatal testing for a specific disorder 

Clinical geneticists manage conditions ranging from chromosomal abnormalities, single gene disorders such as Huntington’s and familial conditions including cancers/ cancer-prone syndromes such as neurofibromatosis. 

Clinical geneticists use a combination of medical knowledge and specialist understanding in molecular biology, genetics and genomics to diagnose and manage patients often with varying clinical presentations. Patients may be referred from General Practitioners and other hospital specialists such as Paediatricians.  

They are responsible for long-term medical care of patients and may sub-specialise in particular areas such as cancer genomics or paediatrics.  

Why Clinical Genetics?  

Here are some quotes taken from practicing clinical geneticists who share their opinion about this field: 

“Our role is therefore evolving to encompass not only our existing clinical skills in examining, phenotyping, diagnosing and counselling patients but also new skills more akin to that of a ‘genomic pathologist’: interpreting what we see in a patient’s genomic data in light of clinical information.” 

“Such is life in clinical genetics – a dynamic and growing specialty with ever-increasing relevance to mainstream medicine.” 

“excitement of making rare diagnoses is very rewarding” 

“cutting edge specialty – cusp of that wave going forward with these new technologies that are transforming medicine”  

“I became a clinical geneticist because I had an interest and fascination for the rare syndromic disorders seen in paediatrics and adult medicine.”  

What are the jobs available in this field? 

Clinical geneticists mostly work in outpatient and ambulatory care settings. However, they can also be asked to see inpatients, typically in neonatology or paediatrics, to provide diagnostic opinions. 

On average, specialists will see between ten and 15 families a week, spread between two or three clinics. The clinicians work hand-in-hand with scientists to diagnose and manage patients. Examples include referring patients to specialist centres for tests for the genetic condition in question. Furthermore, clinical geneticists will often be involved in MDT discussions with doctors of other specialities.  

With a rapidly evolving specialty, doctors participate and are up-to-date on the latest research and literature in the field to increase accuracy of diagnosis and management. 

Like other specialities, doctors will be involved in teaching! They will not only provide teaching to students and their patients but also colleagues in other specialities! 

There is little or no out-of-hours or shift work in clinical genetics. However, some clinical genetics units organise an on-call rota, particularly for the diagnosis of neonates with abnormalities or prenatal cases. 

Training Pathway

Image of the training pathway for Clinical Genetics taken from GMC’s Clinical Genetics Curriculum page, available online from  

The Work of Clinical Genetics Society

Our society aims to increase awareness of genetics and genomics whilst supporting students of any subject background with an interest in these vast and incredible fields by providing opportunities to get involved! 

Through this society we aim to increase networking opportunities between students, researchers and clinicians in the field of genetics/genomics. We have regular tutorials, academic skills sessions and journal clubs to further education of students and provide teaching and research opportunities. We also host various events such as our flagship annual conference, alongside various talks by leading researchers and clinicians, as well as charity fundraisers, socials and more! 


Leave a Comment