Consultant physicians working with patients - Royal College of ...

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2 Specialties Clinical geneticsClinical geneticsPeter D Turnpenny FRCP FRCPCH FRCPath FHEA Consultant clinical geneticistFrances A Flinter MD FRCP FRCPCH Consultant in clinical genetics1 Description of the specialtyClinical genetics provides a diagnostic and geneticcounselling service for individuals and families with,or at risk of, conditions that have, or may have, a geneticbasis. Individuals and families are helped to understandtheir condition, its implications and their options withregard to reproduction, screening, prevention andmanagement. Genetic disorders affect at least 5% of thepopulation. 1Who are the patients?A patient is an individual person, or their family,affected by or at risk of a genetic disorder or congenitalabnormality (that may be non-genetic). They seek adiagnosis, information, recurrence risks for themselvesor other family members, screening and interventionoptions. Patients come from all age groups.Main disease patternsGenetic disorders can affect any body organ or systemand include: chromosomal abnormalities, including balancedrearrangements single gene disorders, eg muscular dystrophies,dysmorphic syndromes, inherited cardiacconditions, skeletal and connective tissue disorders,and neurological conditions, across all ages familial cancer syndromes, including commoncancers as well as rare single-gene conditions congenital abnormalities, including non-geneticand teratogenic anomalies learning disabilities.2 Organisation of the service and patternsof referralA typical serviceThis is regionally based for populations ranging fromapproximately 1 million to 5 million and delivered in a‘hub and spoke’ model. 2 Each centre maintains acomputerised family-based record system,incorporating disease-specific registers.Staff consultant clinical geneticists, with subspecialtyinterests, eg paediatrics/dysmorphology, cancer,neurogenetics, prenatal and cardiac genetics genetic counsellors (GCs), often with subspecialtyinterests, perhaps based in a peripheral office specialty registrars (StRs) and academic clinicalfellow (ACF) trainees administrative, clerical and managerial staff information technology (IT) support.Service delivery mainly outpatient-based with widely distributedlocal clinics general and specialist clinics, eg paediatric, cancer,neurogenetics and cardiac- combined clinics, eg ophthalmic, skeletal dysplasiaand cardiac.Service summaryThis includes clinical and genetic diagnosis; explanationand information about the disease, syndrome orcondition; determination and communication ofgenetic/recurrence risk; identification of screeningand/or intervention options; and appropriatecounselling support. 3 Additionally, there is an expertinformation and educational resource for healthcaredisciplines, 4 a contribution to research through clinicaland molecular projects, and recruitment to nationalstudies and therapeutic trials.Sources of referral from primary, secondary andtertiary levelsReferrals come from all medical specialties, mostcommonly general practice, paediatrics,obstetrics/antenatal screening, surgery and cardiology.Referrals may be urgent, eg neonatal consultations, andreceived from other regional genetic centres (RGCs)C○ Royal College of Physicians 2013 59
Consultant physicians working with patientsbecause families are widely scattered. Self-referrals areusually accepted and additional family members oftenattend unannounced.The NHS document Do once and share: clinical genetics(2006) 5 outlines the patient journey.Locality-based and/or regional servicesThereare23RGCsintheUK,allwithstronglinkstogenetics laboratories, mainstream medical specialtiesandtheirclinicalnetworks;servicesaredeliveredina‘hub and spoke’ model.Community models of careThe Department of Health (DH) genetics white paper(2003) 6 recognised that genetics impacts on mainstreammedical services. The DH in England funded severalinitiatives (for details see www.clingensoc.org)andsome general practitioners with a special interest(GPwSIs) were appointed. The role of GPwSIs remainsto be evaluated fully and debate continues in relation tothe extent to which genetics can be ‘mainstreamed’ (seesection 10, Key points for commissioners, no 9).Complementary servicesIn some areas hereditary blood diseases(haemoglobinopathies/haemophilias) are oftenmanaged by haematologists.Some clinicians (not trained as geneticists) with aspecialised area of expertise undertake the clinicalgenetic aspects of a condition, or group of conditions,and offer a national or supra-regional service, egmitochondrial disorders.3 Working with patients: patient-centredcareWhat you do with patients Some referrals are managed by a GC, possiblyunder consultant supervision. Background information is gathered – including adetailed family pedigree, confirmation of diagnoses(eg from cancer registry), review of medical recordsand psychosocial circumstances. The consultant clinic includes assessment,examination, explanation, counselling, appropriateinvestigations and/or screening. Follow-up may be undertaken by a GC. Postclinic letters are detailed and copied to thepatient/family – this is regarded as a key part ofpatient communication and is intended forlong-term retention. Seealsosections1and2.Patient-centred careThe patient’s, or family’s, agenda is paramount;questions are explicitly invited. Genetic counselling is‘person-centred’ and ‘non-directive’ and clinical lettersare personalised.Principles of privacy, consent, confidentiality andnon-discrimination on the basis of geneticcharacteristics are upheld – see Consent andconfidentiality in genetic practice. 7Involving patients in decisions about theirtreatmentPatients/families are provided with accurate, up-to-dateinformation on genetic risks, testing and/or screening,and reproductive choices available. A non-directiveapproach fosters patient autonomy and they areencouraged to retain clinic letters. The specialposition of children has been extensively considered 8and the principles of the Mental Capacity Act 2005 9upheld.Patient choice: ethnic and religious considerationsEthnic, cultural and religious considerations areparamount and translation services are used whennecessary.Opportunities for educationThese are provided at clinic through postclinic lettersand patient information leaflets (in different languages).Patients and families are directed to relevant lay supportgroups, and geneticists respond to invitations to theirmeetings.Promoting self careA non-directive approach and autonomous decisionmaking are encouraged (see above).Patients with chronic conditionsClinical geneticists actively help coordinatemultidisciplinary care.The role of the carerThe carer’s role is recognised to be vital for manypatients, especially those with a learning disability andneuromuscular disorders. Advocacy and support areoffered appropriately.60 C○ Royal College of Physicians 2013
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AbbreviationsA&EAACsAMUsARCPCCGsCCS
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