Clinical genetics applies the principles of Good medical practice (2013) and gives time to clinical governance. Attention is paid to detail and accuracy in diagnosis and recording, and adherence to quality standards.
Clinical genetics services should be part of a regional genetics centre (RGC), with access to specialised genetics laboratories and an academic university department of medical genetics.
The lead clinicians of the regional genetics centres upload quarterly performance data to the Specialised Services Quality Dashboard (SSQD) (opens PDF, 312.62KB). Outcome data are discussed at the Lead Clinicians Group of the Clinical Genetics Society and at the Medical Genetics Clinical Reference Group.
Genetic counselling is ‘person centred’ and ‘non-directive’, and clinical letters are personalised. The principles (opens PDF, 564.14KB) of privacy, consent, confidentiality and non-discrimination on the basis of genetic characteristics are upheld.
Patients/families are provided with accurate, up-to-date information, genetic risks, testing and/or screening, and reproductive choices that are available to them. A non-directive approach fosters patient autonomy. The special position of children (opens PDF, 569.93KB) has been extensively considered and the principles of the Mental Capacity Act, 2005 (opens PDF, 390.95KB) upheld.
Ethnic, cultural and religious considerations are paramount, and translation services are used when necessary.
Patient support groups
Patients and families are directed to relevant lay support groups, and geneticists regularly participate in their meetings locally and nationally. Close links exist with many relevant patient groups, and clinical geneticists are well-represented among their expert advisers. Close links exist with the Genetic Alliance (umbrella organisation of lay support groups). With mutual consent, patients may be put in touch with others who are affected by the same genetic disorder.
Availability of clinical records/results
Records are accessible under the Data Protection Act, with care taken not to disclose (opens PDF, 564.14KB) information held about other family members.
Service developments that deliver improved patient care include:
- establishment of clinical networks for expanding subspecialty demand, eg cancer and cardiac genetics
- implementation of new diagnostic tools, eg microarray–CGH (comparative genomic hybridisation), next-generation sequencing (NGS) panels and exome–genome analysis in collaboration with laboratory colleagues and the UK Genetic Testing Network
- recommendations for the use of chromosome microarray (opens PDF, 270.15KB) in pregnancy
- working with Genomics England to develop Genomic Medicine Centres across England, to facilitate integration of genomics into the NHS.
Specialty and national guidelines
Data used to inform service improvement is collected through a variety of sources. Outcome data is difficult to define in clinical genetics. The Specialised Services Quality Dashboard (SSQD) (opens PDF, 312.62KB) provides data centrally used by the clinical reference group to assess service performance, including a focus on waiting times, patient experience, audit and incident reporting. The SSQD tools for clinical genetics include:
- multidisciplinary clinics with patients in attendance
- clinical audits
- educational sessions provided by clinical genetics to other specialties to support genetics in mainstream medicine.
Patient feedback provided through patient satisfaction surveys, patient complaints and clinical incident reporting locally can be used by services and individuals in appraisal and revalidation.