Recognising when to refer a patient to the Clinical Genetics Service (CGS) is important but not always well understood. This article provides guidance for junior doctors on when and how to refer patients who are suspected to have a genetic condition.

Before referring, junior doctors should first check their local Clinical Genetics Service (CGS) website or intranet page. Clinical genetics is a regional service in the UK, and each centre has its own referral criteria, forms, and processes. Some may have online referral portals, while others use e-RS or email. Referral guidelines, urgent contact numbers, and patient resources are often available on these websites. Referral appropriateness and pathway details can vary by region, so starting with your local CGS ensures you are using the correct route and criteria.

Mainstreaming

With genomics becoming part of routine care, many conditions are now considered mainstreamed. This means that specialist teams are expected to request and manage appropriate genetic testing themselves, rather than refer to Clinical Genetics for initial testing.

This approach allows testing to be carried out more quickly and accessibly for patients, while enabling Clinical Genetics to focus on more complex, undiagnosed, or multisystem cases.

Common examples of mainstreamed testing include:

• Oncology teams ordering BRCA1/2 or Lynch syndrome panels
• Neurologists requesting epilepsy or ataxia gene panels
• Cardiologists managing testing for Brugada Syndrome or dilated cardiomyopathies
• Haematologists arranging genetic testing for Sickle Cell disease
• Reproductive medicine teams offering carrier screening and referrals for preimplantation genetic diagnosis (PGD)

If you’re unsure who is able to request a particular genetic test, the National Genomic Test Directory for rare and inherited diseases is a useful resource — it outlines which specialists can initiate specific tests.

If you are still unsure on whether testing should be arranged within the specialty or referred to Clinical Genetics, speak to your supervising consultant, review local protocols, or contact your regional genomics service for advice.

If you are unsure where your regional clinical genetics centre is located, the British Society for Genetic Medicine (BSGM) provides guidance on how individuals can locate their regional clinical genetics centre and access local genetic services — please see the link below:

https://bsgm.org.uk/healthcare-professionals/list-of-genetic-clinics

When to Refer to Clinical Genetics:

Consider referring a patient if:

• A patient is seeking predictive or carrier testing, particularly where there is a strong family history or known genetic predisposition

• A child or adult has multiple congenital anomalies, confirmed developmental delay and learning difficulties, or a complex multisystem condition without a clear diagnosis (were relevant mainstreaming tests have been explored)

• There are reproductive concerns, such as:
  • Recurrent pregnancy loss were with no known cause (were relevant mainstreaming tests have been explored)
  • Planning IVF with preimplantation genetic diagnosis (PGD)

• In the context of the patient having a known genetic diagnosis they may need referring for:
  • Management advice
  • Presymptomatic counselling
  • Support with transition from paediatric to adult care
  • There are unclear or complex genetic test results requiring specialist interpretation e.g. a variant of unknown significance

What to Include in a Referral:

Usually each regional centre will tell you the key information to include in your referral but some of the key information that tends to be important are:

• Patient demographics: Name, DOB, NHS number, contact details
• Reason for referral: e.g. predictive testing, suspected diagnosis, reproductive advice
• Three-generation family history when possible (e.g.names, DOB, affected relatives)
• Any previous genetic test results, ideally with reports or summaries

How to Navigate the Referral Process:

1. Talk to the Patient First

• Always gain consent before referring
• Explain what Clinical Genetics does and what the process may involve (e.g. genetic counselling, further testing)

2. Identify Your Local Genetics Centre

• Each region has its own referral forms or systems
• Some allow urgent referrals via phone (e.g. during pregnancy), but most go through:
  • e-RS
  • Letter
  • Local electronic platforms

3. Check if the Referral is Appropriate

• If unsure, call your local CGS team for advice

4. What Happens Next?

• The patient may be contacted for:
  • More family history (by phone or questionnaire)
  • A genetic counselling session
  • A formal appointment with a clinical geneticist

Conclusion

Clinical Genetics is evolving rapidly, with genomic testing becoming more integrated into many specialties. As referral pathways and mainstreaming continue to develop, it’s important for junior doctors to check up-to-date local and national guidelines when considering a referral. Staying informed helps to ensure patients receive the appropriate care.

References

maximising-the-patient-benefit-of-genomics-27.pdf

Referring to specialist genetic clinics – The British Society for Genetic Medicine

https://www.england.nhs.uk/publication/national-genomic-test-directories

https://bwc.nhs.uk/information-for-professionals-genetics

https://www.evelinalondon.nhs.uk/our-services/hospital/genetics/referrals.aspx

https://www.nuh.nhs.uk/information-for-professionals

Written by Dr Isra Khalil (FY2)

Edited by Dr Ataf Sabir (Consultant Clinical Geneticist)