1. Implementing Haemoglobinopathy Screening in Scotland Summary of screening, laboratory and clinical service mapping exercise May 2009

2. Purpose Review of existing policy, practice and resources to inform implementation and service planning Approach 14 territorial NHSS boards 2 questionnaires »Wider haemoglobinopathy screening service »Laboratory specific Site visits Standard agenda and discussion template

3. Questionnaire 1.General information -population, policy, practice 2.Results – positive, negative, partner testing 3.At risk 4.Affected babies and follow up

4. Population

5. ……

6. General information Practice Approximately 30% women booked by 10 weeks Majority of booking and initiation of haemoglobinopathy screening done by midwives in ANC Criteria – ethnicity (SWHMR), obstetric history, GP or patient request, name Coordination of screening – 4/5 nominated role Time to result – 3-14 days

7. Results Negative given by midwife at next ANC appointment 2 boards provide written confirmation, not necessarily recorded within SWHMR Positivegiven by a range of staff –midwife/obstetrician/haematologist at ANC and usually counselled. Partner screening initiated asap. May be carried out at ANC or GP surgery time to result ranges from 3-14 days results given by same range of staff and may be verbal/written 4 boards provide written confirmation of negative result 6 boards provide written confirmation of positive result (5 had no experience)

8. At risk 8 boards had no experience known couples referred for specialist care 3 provide written confirmation of status gestation at which couples are counselled depends on whether newly identified – up to15 weeks 1 board would not offer PND beyond 20 weeks sample – CVS not always available locally molecular diagnosis – most boards refer to Oxford laboratory time to result – 3-14 days results given by range of staff – as before plus geneticist or specialist nurse and likely to provide ongoing support support following TOP – routine/ plus consultant haematologist

9. Affected babies and follow up 5-6 babies diagnosed with SCD/year results given in postnatal ward or at clinic written information given referred to paediatric haematologist with review at appropriate clinic – joint local or referral centre clinical management consistent

10. Laboratory questionnaire General Equipment Workload Results Reporting Partner testing Organisation Literature and cards

11. Laboratory questionnaire General –17 laboratories across all HB areas Equipment –5 unable to process all samples on site –8 share equipment with another department Workload –Range 300-7000 samples pa –criteria – by request, abnormal RCI, name. Not always identified as antenatal specimens –further testing for Hb variants – range of locations Results –small number of cases identified Reporting – time to process and issue result – up to 16 days. –May issue interim report pending result of rare thal/unusual variant –9 have identified role that ensures follow up action is taken

12. Laboratory questionnaire cont’d Partner testing –Specimens may not be identified as such and are less likely to be linked to the partner –Fewer labs have an individual responsible for ensuring that follow up action is taken following partner testing –2 laboratories can generate a list of results that remain outstanding Organisation –Not all CPA accredited (1 conditional) –10 have named individual responsible for haemoglobinopathy screening Literature and cards –8 issue literature and status cards with results

13. Issues and themes Haemoglobinopathy services Policy and practice variable Lack of clarity around leadership roles and responsibilities Lack of effective systems and processes, including IT Lack of specialist haemoglobinopathy screening expertise Wider aspects raised at site visits Clarity around national v local responsibilities/ systems and processes e.g. education/standardised request forms/administering FOQ Major workforce, operational and resource issues around requirement to book women by 8 weeks – education, service redesign and additional human and physical resources Inequity – CVS/timescales Challenge of engaging specific population groups – ethnicity/deprivation Interpretation services – availability and cost QA – reliance on manual systems for many board areas