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2 Specialties Clinical genetics6 Clinical work of consultantsHow a consultant works in this specialtyThe CGS has published a description of the work of aclinical geneticist in its 2011 document Roles of theclinical geneticist. 20 This includes: diagnosis of genetic disorders and congenitalmalformations investigation and genetic risk assessment information giving predictive genetic testing initiation and coordination of health surveillanceand screening for genetic conditions coordination of interventional management inspecialist or multidisciplinary clinics management of the extended family maintenance of genetic family registers liaison with genetic laboratories participation in local and national genetic networks education and training of genetic and otherhealthcare professionals acting as an expert resource to all healthprofessionals research – clinical, biomedical, psychosocial andservice related.Inpatient workThis is limited to ward consultations.Outpatient workSee section 3. Consultants on full-time contracts(10 programmed activities (PAs)) undertake9–11 clinics per month, each consultation lasting45minutesonaverage,equatingtoanannualworkloadof up to 400 formal outpatient consultations; 65–80%of these are new cases/families. Consultants alsosupervise the caseload of GCs, who may conductapproximately 200 consultations annually that neverreach a consultant clinic.Specialist investigative and therapeuticproceduresPatients requiring specialist procedures are referred tothe appropriate specialists.Specialist on callSome centres offer an on-call service for urgent advice,eg prenatal or ward consults, including neonatal units.Clinically related administrationAdministration related to clinical work includes thefollowing: maintenance of disease-specific registers,development of protocols and guidelines, andcontribution to clinical networks correspondence and organisation relating to familiesand their extended members.The balance between clinics, wards, acute andspecialty careThe balance of work is split as follows: mostly outpatient-based; each half-day clinicrequires an additional PA for preparation andcorrespondence the proportion of urgent referrals varies from centreto centre.Direct work compared to supervision andteamworkAlthough most of the work is direct, but supervision ofboth StR trainees and GCs would each require aminimum of 0.5 PA per week. 18,207 Opportunities for integrated careThe principles of integrated care are well-suited toclinical genetics because many genetic diseases aremultisystem, requiring a multidisciplinary approach.Geneticists are well placed to take a holistic,patient-centred approach, and coordinate involvementof other disciplines, screening as appropriate, andprovide expert information to other healthcareprofessionals.8 Workforce requirements for the specialtyThe current workforce in England is approximately140 consultant clinical geneticists (data collected byCGS), and 59 StRs. The Royal College of Physiciansestimates that 0.75 whole-time equivalent (WTE)consultants are required per 250,000 population, whichequates to 7.5 consultant notional half days (NHDs) toprovide a specialist service (both general and cancergenetics) to this size population. Assuming a populationin England of 50 million, this equates to a consultantworkforce requirement of 150 WTE consultants.C○ Royal College of Physicians 2013 63
Consultant physicians working with patientsTable 1 Consultant work programme/specimen job plan generated by a population of 250,000Activity Workload Programmed activities (PAs)Direct clinical careSupporting professionalactivities (SPAs)Other NHS responsibilitiesExternal dutiesOutpatient clinics with preparation and dictation; follow-upcorrespondence, telephone and written advice; ward referrals;multidisciplinary team (MDT) meetings (direct clinical carecomponent); travel to clinics and to MDTs; andnurse/counsellor/StR supervisionEducation and training; appraisal; departmental managementand service development; audit and clinical governance; CPD andrevalidation; researcheg medical director/clinical director/lead consultant inspecialty/clinical tutoreg work for deaneries/royal colleges/specialist societies/DH orother government bodies, etc7.5–8.02.0–2.5Local agreement with trustLocal agreement with trust9 Consultant work programme/specimenjob planTable 1 shows a consultant work programme/specimenjob plan.10 Key points for commissioners1 Clinical genetics is commissioned as a specialisedservice in England (Specialised services nationaldefinition set, definition no 20). 21 In devolvedregions: in Scotland clinical genetics iscommissioned by health boards, while the fourgenetics laboratories comprise the ScottishGenetics Consortium, commissioned by theNational Services Division, NHS National ServicesScotland; in Wales, genetics is commissioned by theHealth Care Commission Wales; in NorthernIreland, genetics is commissioned by the Healthand Social Services Boards (informed by theRegional Medical Services Consortium).2 The role of the specialty in contributing to clinicalcare in the NHS is far wider than direct patientcontact; expertise and education is provided acrossall aspects of medical genetics.3 Clinical genetics services are complex,multidisciplinary services based in RGCs,offering integrated clinical and laboratory service,typically serving a population of 1–5 millionpeople.4 Staff providing these services include consultantclinical geneticists (0.75 WTE per 250,000population); registered genetic counsellors; andappropriate administrative, clerical, IT andmanagement support.5 Services offered include the diagnosis of geneticconditions and birth defects that, althoughindividually rare, account for at least 5% of diseasein the population. Advice about appropriatescreening/surveillance is offered, including torelatives at risk of being affected. Reproductiveoptions, including prenatal diagnosis orpre-implantation genetic diagnosis, are discussed,and patients and their families are directed toadditional sources of advice and support.6 RGCs should also include, or have access to,comprehensive laboratory services, includingmolecular genetics (DNA), cytogenetics(chromosomes) and specialised biochemistry(inborn errors of metabolism, etc). Clinicalinvolvement in the provision of laboratory servicesis essential to ensure clinically appropriate genetictesting and follow-up.7 Clinical genetics services uniquely support not onlythe person who initially presents to the geneticsclinic but also members of the extended family whomay also be at risk. Sometimes this follow-up workis facilitated by the maintenance and activecurating of disease-specific genetic registers.8 Genetics centres maintain long-term (sometimeslifelong) contact with patients and their familiesand retain clinical records indefinitely as theycontinue to be relevant to patients’ descendantsand succeeding generations.9 The explosion in genetic testing over the last fewyears will continue and the benefits of these testswill extend through all branches of medicine. Staff64 C○ Royal College of Physicians 2013
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