As genome-wide sequencing becomes more affordable and more readily available, clinical geneticists are seeing a wider range of patients and making more diagnoses. There is an increasing need for Clinical Geneticists to work closely with other specialties to optimise patient care, e.g., by facilitating a family-based approach and aiding in interpretation of genomic variants. In planning for future practice there is a need to capture clinical outcomes, how these are changing, and to ensure other clinical specialities are aware of the service we provide.Methods
We devised an innovative clinical outcome system to facilitate diagnostic coding for each patient. Using this tool, we audited current practice, assessing patient referrals and reasons for genetic input.Results
696 individuals and their families were reviewed in 133 Genetics clinics in a one month period. Clinic locations included Great Ormond Street Hospital and outreach clinics in Romford, South end, Epping, Harlow, Chelmsford and others. Patients ranged from 0–84 years, with 43% of patients being paediatric (0–18 y) and 57% adults (>18 y). Peaks in referral numbers occurred for the 5–18 years (146 patients) and 30–40 years (144 patients) age groups. Clinical presentations were wide ranging and included personal and family history of cancer, including neuroendocrine and renal tumours, prenatal presentation of genetic disorders, paediatric conditions with dysmorphic features, haematological conditions with suspected genetic aetiology, and neurodegenerative conditions. A number of additional patients were discussed in multi-specialty MDT settings to aid management.Conclusion
In its first month, a major new clinical outcomes system has enabled capture of current clinical practice in clinical genetics, and will allow us to monitor changes in future practice. This information will help to raise awareness across medicine of a changing role for clinical genetics in an emerging genomics era and help us group patients for future clinical trials.