Introduction

Clinical genetics is a rapidly evolving medical specialty at the forefront of modern healthcare. With the growing impact of personalised medicine, genomic diagnostics, and targeted therapies, a solid understanding of genomics is essential. This article provides an overview of clinical genetics, outlining the role of clinical geneticists, pathways into the, and its increasing relevance across all areas of clinical practice.

What is it?

Clinical genetics is a multidisciplinary medical specialty focused on the diagnosis, management, and counselling of individuals who are affected by, or at increased risk of, inherited and genetic conditions. These can range from single-gene disorders to chromosomal abnormalities and complex polygenic traits.

Who is involved?

Clinical genetics is a multidisciplinary specialty that involves various professionals working together to diagnose and manage inherited conditions. Key members of the team include clinical geneticists, genetic counsellors, genomic associates and genomic laboratory scientists. Laboratory scientists perform DNA sequencing and analyse genetic data, providing detailed reports to requesting clinicians. Genetic counsellors while also involved in organising appropriate genetic tests for patients, focus on psychological and emotional support for patients and families, helping them understand the implications of genetic information. Clinical geneticists evaluate and examine patients, interpret test results, and make diagnoses. They also see individuals diagnosed with inherited disorders to help them understand the condition and the potential familial implications. Together, as a team this ensures comprehensive care that addresses both the medical and

Why might someone see a clinical geneticist?

There are several reasons why someone might see a clinical geneticist, including:

• Prenatal counselling
• Undiagnosed or rare genetic conditions (e.g., mitochondrial disorders)
• A strong family history of cancer  – to assess risks and options
• Transitioning from paediatric to adult services with a genetic condition

What is the work like?

Clinical genetics is primarily an outpatient specialty characterised by a typical 9-to-5 working schedule. Clinic appointments usually last between 45 minutes to one hour per patient, allowing for thorough assessment and discussion. As many of the conditions encountered are rare and complex,  clinical geneticists spend significant time outside of direct patient contact. This includes reviewing up-to-date medical literature, researching differential diagnoses, selecting appropriate genetic tests, and interpreting and following up on test results. Clinical geneticists also support many MDTs. Clinical genetics does not currently involve any out of hours work or acute or emergency care. On call duties, conducted 9-5, can involve supporting decision making in more urgent scenarios such as pregnancy or unwell newborn babies in the neonatal unit. Overall, the work of a clinical geneticist balances detailed patient consultations with extensive behind-the-scenes analysis, making it both intellectually challenging and rewarding.

Types of Genetic Testing

In the UK, genetic testing is delivered through the NHS Genomic Medicine Service and coordinated via regional Genomic Laboratory Hubs (GLHs). A range of genetic tests is available, depending on the clinical indication, urgency, and complexity of the suspected condition.

For conditions caused by a known pathogenic variant in a single gene — such as Huntington’s disease or cystic fibrosis — single-gene testing is appropriate when there is strong clinical suspicion. Where a patient’s presentation aligns with a group of related conditions, gene panel testing enables simultaneous analysis of multiple relevant genes. This approach can be useful for conditions such as cardiomyopathy or short stature.

For certain conditions, whole genome sequencing (WGS) may be used. WGS is becoming more accessible through the NHS under defined eligibility criteria, particularly for patients with suspected rare diseases or undiagnosed genetic conditions. As well as sequencing individual genes, this technology is also able to detect structural chromosomal abnormalities, and is generally replacing chromosomal microarray (CMA).

Where a chromosomal abnormalities such as Down syndrome (trisomy 21) is suspected, Quantitative Fluorescence PCR (QF-PCR) are used. This can be followed by karyotyping where appropriate.

Prenatal genetic testing is available for pregnancies at increased risk of genetic or chromosomal conditions. This includes non-invasive prenatal testing (NIPT) for common aneuploidies using maternal blood, as well as invasive diagnostic procedures — such as chorionic villus sampling (CVS) or amniocentesis — when a definitive diagnosis is required.

Should you choose clinical genetics?

If you have a passion for genetics and enjoy the idea of a specialty that is continually evolving at the cutting edge of medical science, clinical genetics could be an excellent fit.  This field offers the opportunity to work with the full age range from foetus to old age and is excellent for those who are good communicators . Clinical genetics typically involves a regular 9 to 5 schedule, allowing time to engage in academic interests such as research and teaching. However, if you prefer a faster-paced specialty with frequent hands-on procedures and acute care, other medical fields may better suit your interests.

Written by Dr Isra Khalil (FY2)

Edited by Dr Charlotte Sherlaw-Sturrock (Clinical Genetics ST5)