- Patients include any person or family member who is affected by, or at risk of, a rare genetic disorder; patients therefore come from all age groups.
- Referrals to clinical genetics come from all medical specialties, particularly oncology, cardiology, neurology, paediatrics and community child health, as well as surgical specialties and primary care.
- Referrals may be urgent, eg ward referrals for inpatient admissions to specialised services, neonatal and paediatric intensive care, and referrals during pregnancy from midwives, obstetricians and fetal medicine centres.
- Referrals are also received from other regional genetics centres (RGCs) to see family members as part of wider family studies and cascade testing.
- Self-referrals may be accepted exceptionally; additional family members often present unannounced, as genetic conditions frequently have implications for the wider family.
- After triaging, some referrals will be dealt with by letter only, and some by telephone call from either a consultant or a genetic counsellor.
Outpatient genetic clinics
Outpatient clinic appointments form the main mode of service delivery. Appointments usually last 45 minutes; four or five patients will be seen per clinic, depending on the type of case. Most cases will have a single appointment. At or prior to the clinic appointment, background information is gathered – a detailed family pedigree, confirmation of diagnoses (eg from cancer registry), review of medical records and psychosocial circumstances. Clinic assessment includes examination and arranging appropriate investigations. Post-clinic letters are detailed and either directed to or copied to the patient/family – these are regarded as a key part of patient communication, intended for long-term retention. Information is provided at clinic, through the post-clinic letters, and via patient information leaflets (in different languages). Communication aims to be prompt, clear and sensitive. Advocacy and support are offered appropriately. Access equality is enhanced by delivery locally where possible and centrally where necessary, with specialist and general clinics being held in RGCs and outreach general genetics clinics in district general hospitals.
Working with other specialties
Clinical geneticists are essential members of clinical networks, eg cancer/oncology, fetal medicine, cardiology and ophthalmology. Advice is provided on familial/genetic diseases, and genetic assessment and subsequent recommendation are delivered through joint multidisciplinary (MDT) clinics and meetings.
Mainstreaming MDTs and integrated care
The principles of integrated care are well-suited to clinical genetics because many genetic diseases are multisystem, requiring a multidisciplinary approach. Geneticists are well-placed to take a holistic, patient-centred approach and coordinate involvement of other disciplines, screening as appropriate, and provide expert information to other healthcare professionals.
Working with GPs
- Referral guidelines are available to assist GP clinical management, eg for family history of common cancers.
- Guidelines for GPs to manage common genetic disorders.
- Some GPs with a specialist interest were established with White Paper funding.
- Clinical geneticists are involved in GP education.