Implementing Haemoglobinopathy Screening in ScotlandSummary of screening, laboratory and

clinical service mapping exercise May 2009

Purpose Review of existing policy, practice andresources to inform implementation and

serviceplanning

Approach 14 territorial NHSS boards2 questionnaires

» Wider haemoglobinopathy screening service» Laboratory specific

Site visits Standard agenda and discussiontemplate

Questionnaire1. General information

-population, policy, practice

2. Results – positive, negative, partner testing3. At risk 4. Affected babies and follow up

Population

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Number of pregnant women who book for antenatal care by NHS Board

Population

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Ancestry Groups Newborn Bloodspot Cards January - December 2008

British/Irish

Other ancestry groups

……

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

Results

Negative given by midwife at next ANC appointment2 boards provide written confirmation, not necessarily

recorded within SWHMRPositive given 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 daysresults given by same range of staff and may be

verbal/written4 boards provide written confirmation of negative

result6 boards provide written confirmation of positive

result (5 had no experience)

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

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

Laboratory questionnaire

• General • Equipment• Workload• Results • Reporting• Partner testing• Organisation• Literature and cards

Laboratory questionnaire

General –17 laboratories across all HB areasEquipment–5 unable to process all samples on site–8 share equipment with another departmentWorkload–Range 300-7000 samples pa–criteria – by request, abnormal RCI, name. Not always identified as antenatal specimens–further testing for Hb variants – range of locationsResults –small number of cases identifiedReporting– 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

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

outstandingOrganisation

– Not all CPA accredited (1 conditional)– 10 have named individual responsible for

haemoglobinopathy screeningLiterature and cards

– 8 issue literature and status cards with results

Issues and themesHaemoglobinopathy 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