NHS Sickle Cell and Thalassaemia screening programme

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NHS Sickle Cell and Thalassaemia screening
programme

• Reality not hype
• genetics and primary care
• RCP
• 30 January 2004

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NHS Sickle Cell and Thalassaemia Screening
ProgrammeKings College London
http//www.kcl-phs.org.uk/ haemscreeningalliso
n.streetly_at_kcl.ac.uk
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Context Antenatal screening and genetics

• By 2004 there will be
• effective and appropriate screening programmes
  for women and children
• NHS Plan Chapter 13 (England)
• including
• Downs programme
• Sickle Cell Thalassaemia
• (Cystic Fibrosis)
• Infectious disease programme

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CONTEXT baseline position

• a range of approaches to-
• information
• screening for risk (e.g. ethnic question, age)
• testing (collection method, methods used,
  analysis, interpretation and follow-up of
  results/information)
• services to support
• approach to consent
• information giving etc

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Context advice and policy

• National Screening Committee (see NeLH)
• NICE guidance for practitioners
• (some screening and some other)
• Women and Childrens NSF
• (due this year)?
• CHAI inspections in future
• Consistency ? across all these

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Antenatal programme

• Much of the policy has now been decided
• Action now to ensure that there is consistency in
  message on the policy
• Emphasis moves to standardisation of approach-
  communication, education and organisation are
  very important

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Models of care policy direction

• midwifery lead care
• reduce unnecessary visits in pregnancy to release
  resources
• shift emphasis to earlier visits to midwife

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Context issues to resolve

• Relationship to/boundary with primary care and
  early care (including pre-conceptual care) not
  clarified
• Changes in GP contract and opportunities for
  enhanced service still unclear not yet grasped
• Midwifery staffing and delivery unit staffing are
  outstanding issues without reducing the antenatal
  visits

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Antenatal screening integration into clinical
care

• Vertical programmes need to integrate
• Education and training as a package
• Information for professionals as a packages (for
  routine info with conditin specific info for
  screen positives)
• IT systems as a package
• Quality management and feedback as a package

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Education and training needs to support the
antenatal programme

• Policy for each area as a package
• Genetics knowledge and understanding
• Communication, cultural competence
• Counselling screen positives and referal onwards
• Organisation and delivery of services in local
  area

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Risks and tensions Sickle Thal

• genetic screening for a recessive condition which
  detects carriers risks associated with
  populations and professionals understanding
  or not are we ready for this
• Cystic Fibrosis issues apply but have not been
  much raised yet
• HbO- populations affected by sickle and thal not
  visible and problems not perceived or rated as an
  issue

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Communication

• Training including packages for training the
  trainer
• Community engagement and media awareness
• Materials, reports and information
• For professionals and wider public
• Public education and awareness will also drive
  the professionals approach and attitudes to these
  programmes

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Information and community awareness

• whole antenatal screening programme
• antenatal genetic screening - Hbo,CF
• Whole newborn screening programme - PKU, CH etc
  info needed antenatally
• Users informed give consent
• community awareness and publicity
• Community engagement

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Public knowledge and understanding

• Not yet internalised and placed new knowledge
  in our value and knowledge system
• Still sensational genetics etc
• Place and contribution of genetics still
  specialist not generalist
• Too much emphasis on science or extremes of
  development and not enough on supporting
  individuals to deal with this information and
  these decisions
• Move out from ivory towers and into the
  mainstream needs to be planned for

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Ethical framework

• Antenatal screening relates to assessment of the
  mother and risks to her health as well as
  assessment of the foetus and risks to its health
• Informed decision making includes the right to
  decide to opt for termination of pregnancy in
  some situations (some grey areas eg timing and
  severity)

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Decision making

• right of woman and partner to be offered the
  choice (c.f. fundamentalist views)
• right of woman and partner to decline the offer
  (c.f. eugenics)
• right of professional to acknowledge their own
  framework and refer elsewhere

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GPs perspective

• Antenatal programme
• - needs modernising consent, information,communi
  cation, IT
• - GPs often not informed of results lifelong
  info ICRS spine
• - information for parents professionals
  -standardised
• - public awareness consistent messages needed
• Management of carriers and genetic implications
• when to do this for CF and HBO
• what about rarer conditions?
• evidence base for best way to do this lacking
• genetics centres, specialist counsellors, other
  services
• litigation if fail to advise of risk to future
  pregnancies
• Family practitioner and long term role makes
  primary care well placed to take on these issues
• Preconceptual testing
• ideal opportunity at first visit or when
  contraceptive advice provided

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Risks and tensions genetic aspects

• Challenges in how identification of affected
  pregnancy is presented, accepted and received in
  the many different communities
• (e.g. arranged marriages or devaluation of
  brides)
• Stigma of carrier status
• National policy on antenatal screening but no
  consideration yet of preconceptual testing or
  screening which can be more acceptable
• primary care ideally located to work on this but
  timescale ?
• the ten year plan