What Is Clinical Genetics?

What is clinical genetics? Well, essentially, clinical geneticists are Doctors that specialise in the identification and diagnosis of genetic diseases. Moreover, clinical genetics pertains to the diagnosis, management and counselling of patients affected by genetic conditions, as well as their families.

It offers a service for both individuals and families with a genetic disorder or those who are at risk of such conditions, allowing people to better understand what options are open to them to mitigate their genetic risk. Those attending a clinic may very well be healthy, but are simply seeking to understand more about a hereditary condition in their family and how it may impact them, and in particular to understand the implications for reproduction. 

Common Reasons For Investigations

However, most commonly, patients visit clinics like ours due to seeking a diagnostic opinion. Frequently this relies on family history, combined with a clinical examination and augmented by laboratory investigation, with a view to a diagnosis being established. Genetic disorders and disease can be hard to identify, with many requiring services like ours for their proper identification and characterisation. The nature of cases we see varies widely but can include suspected:

  • Chromosomal disorders

  • Autism & learning difficulties

  • Intellectual disability

  • Birth abnormalities

  • Abnormalities found on ultrasound

  • Infertility

Appointments of this kind typically last 45-60 minutes, with relatives also able to attend should they wish. Follow-up appointments are then arranged with different specialists with particular expertise in the type of genetic issue that exist within a family.

Get the Answers You Need With Genetics.ie

At Genetics.ie, we offer a range of different genetic testing services with expertise in infertility, prenatal genetic testing and birth defects, as well as cardiac genetics, developmental disorders, muscular dystrophies and chromosome disorders. With our help, you can get the answers you need.


If you would like to know more about us and how we work, please visit us today at www.genetics.ie, where you’ll find everything you need to know. Alternatively, to request an appointment, you can call us on 01 206 4329 or fill out our contact form and we’ll get back to you as soon as we can.

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What is Genetic Counselling?