Newborn Bloodspot Screening: bringing it under the Screening Umbrella

1. Newborn Bloodspot Screening: bringing it under the Screening Umbrella 11th October 2011 Presenter: Dr Sharon Hillier Acting Deputy Director Screening Division, Public Health Wales Insert name of presentation on Master Slide

2. What is Newborn Bloodspot Screening? • It has been the routine practice for more than 30 years to use dried blood spot samples from newborns to screen for serious and rare conditions; for which prompt management or treatment can improve the baby’s outcomes. • Blood sample taken ideally on day 5 of life • Part of routine midwife care Newborn Bloodspot Screening

3. What are the conditions screened for? • The UK National Screening Committee recommend newborn screening for; • phenylketonuria, • congenital hypothyroidism, • cystic fibrosis, • sickle cell disorder • medium chain ACYL-CoA dehydrogenase deficiency (MCADD) • In Wales: • babies are not screened for MCADD or Sickle cell disorder. • Duchenne Muscular Dystrophy is offered to boys which is not in line with National Screening Committee advice. Newborn Bloodspot Screening

4. The conditions • Phenylketonuria: an inherited metabolic disorder, leading to severe and irreversible developmental delay if dietary treatment is not started by the time the baby is 21 days old. Incidence 1:10,000 babies (approx 4 cases each year in Wales) • Congenital hypothyroidism: a failure of the thyroid gland to produce thyroxine, leading to severe and irreversible developmental delay if hormone replacement is not started by the time the baby is 21 days old. Incidence 1:4,000 babies (approx 17 cases each year in Wales) • Cystic fibrosis: an enzyme deficiency leading to chest and gastrointestinal problems. Treatment with antibiotics and physiotherapy can delay the onset of severe and irreversible lung damage. Incidence 1:2,500 babies (approx 14 cases and 12 healthy carriers each year in Wales) Newborn Bloodspot Screening

5. MCADD: an inherited metabolic disorder which results in babies being unable to properly break down fats to make energy for the body. MCADD can cause death at the first metabolic decomposition episode experienced. Incidence 1:10,000 babies (estimated 3 or 4 cases each year in Wales) • Sickle cell disease: a disorder of haemoglobin which can result in painful sickling crises, stroke and life-threatening infections. Incidence 1:2,500 babies overall UK but Wales low incidence area (estimated 4 cases and 200 healthy carriers) • Duchenne Muscular Dystrophy (DMD)an inherited disorder affecting boys, who progressively lose muscle function and have a shortened life expectancy. Incidence 1:3,500 male babies (approx 4 males babies each year in Wales) Newborn Bloodspot Screening

6. How is the programme currently delivered in Wales? • Midwives as part of routine post natal care take the blood spot samples and send the cards for testing to the Newborn Screening Laboratory. • The Newborn Screening Laboratory is managed by Cardiff and Vale University Health Board and all blood spot tests across Wales are undertaken in this laboratory (approx 35,000 samples each year). • Positive screening tests are sent by the laboratory to identified paediatricians for prompt follow up. • The existing Newborn Blood Spot screening is not, at present, managed by the Screening Division of Public Health Wales. Newborn Bloodspot Screening

7. What are the issues? • In 2006 Screening Services Wales, carried out a review of existing NHS Wales newborn blood spot screening services. The review established that: • There were poor governance procedures with no agreed standards or protocols • No failsafe system existed to ensure that the baby was screened • No failsafe system existed to ensure that blood cards reached the Newborn Screening Laboratory • That improved pre-test information needed to be developed. Newborn Bloodspot Screening

8. What have we been tasked to achieve? • In November 2010, Dr Chris Jones, the Medical Director of NHS Wales, wrote to Health Boards and Public Health Wales NHS Trust to inform them of the Minister’s decision to: • establish a sustainable and safe national newborn blood spot screening programme, • introduce Sickle Cell and MCADD tests, • review of DMD testing during 2011-12. • Screening Division, Public Health Wales has established a formal project to take this work forward. Newborn Bloodspot Screening

9. Project Structure PHW Board / Exec Board Welsh Screening Committee Project Board Project Quality Assurance Team Project Team Operations Subgroup (Lab, IT, Admin) Education & Communication Subgroup (Training, Leaflets) All Wales Policy & QA Subgroup (to include DMD review) Finance Subgroup Newborn Bloodspot Screening

10. Key work • Communication with stakeholders • Information provision to parents • Informed choice/consent • Training and education of health professionals • Appropriate failsafes (IT based) • Appropriate pathways for newborns who have positive screening test. Newborn Bloodspot Screening

11. Key Decisions • DMD testing – not recommended by UK National Screening Committee. No current cure for disease. Reproductive choice. • Sickle cell carrier identification – policy decision following consultation with stakeholders Newborn Bloodspot Screening

13. The Aim • The aim of the Newborn Bloodspot Screening Programme in Wales is to offer all eligible babies, at day 5 of life, screening for rare but serious diseases that would benefit from early intervention and reduce mortality and or morbidity from the disease. Newborn Bloodspot Screening