NEWBORN SCREENING IN THE UK Developing a Patient Charter

OUR MEMBERS & SUPPORTERS Genetic Alliance UK 220 members Rare Disease UK 2500 supporters 300 patient organisations SWAN UK 2200 families First for the benefit of those unfamiliar with Genetic Alliance UK an introduction to our organisation. Yadda……. Genetic Alliance UK is. The work that we do includes……providing up skilling and networking opportunities for our members, And opportunities to engage with the policy, awareness, research and influencing that work that we do. We have 2 substantial work-streams you may be familiar with. RDUK – established to bring focus to the need for a UK Strategy for Rare Diseases and to influence policy development and implementation for the benefit of the Rare Disease Community. Through Rare Disease UK we provide the secretariat to the APPG and support CPG in Scotland and Wales. Finally SWAN UK Across the rare, genetic and undiagnosed communities there are commonalities of experience and need. Including but not limited to issues in gaining a speedy and accurate diagnosis, coordination of care, availability of effective treatments and funding for research. Also a s a common thread our communities (rare, genetic and undiagnosed) have a greater level of interest in genetics and genomics. May be more familiar with the science or concepts as well as have a greater level of appreciation of the potential benefits – especially in terms of improving diagnosis and supporting research into treatments. Many will may have had genetic testing or counseling. And may support research through their disease specific charities. This opportunities and concerns relating to genomics are more immediately and practically relevant to patients affected by rare, genetic and undiagnosed conditions than to the general population.

BLOOD SPOT/ GUTHRIE CARD introduced 1969

BLOOD SPOT SCREENING IN THE UK 2006 Sickle cell disease 2001 Cystic Fibrosis Inherited Metabolic Diseases 1981 Congenital hypothyroidism 1969 Phenylketonuria* 2015 Maple syrup urine disease 2015 Isovaleric acidaemia 2015 Glutaric aciduria type 1 2015 Homocystinuria 2009 Medium-chain acyl-CoA dehydrogenase deficiency c.800,000 newborns screened each year Photo credit: DHSC website

NUMBERS FOR ENGLAND 2016/17 656,430 babies screened (cost of £1,151,143) Sickle Cell / Thalassemia 308 CHT 259 Cystic Fibrosis 98 PKU 78 MCADD 63 IVA 9 GAI 9 HCU 7 MSUD 5 TOTAL 836 Source: PHE Gateway Number 2017566

UK NATIONAL SCREENING COMMITTEE [Est 1996] UK NSC advises ministers and the NHS in the 4 UK countries about all aspects of population screening and supports implementation of screening programmes. Of a possible 29 conditions – 9 currently recommended for routine NBS

SOME KEY ISSUES IN THE UK Requirement for a treatment (wider benefit not taken into account) Unrealistically high (and somewhat circular) evidence requirements Utilitarian decision - high value placed on possible anxiety to parents of unaffected newborns due to false positives Lack of transparency UK programme limited in scope

THE NEWBORN SCREENING PROJECT ‘Patient charter’ Inform future work of UKNSC Departments of Heath UK NHSs Kick-start public affairs work – including with All Party Parliamentary Group

OUR DEVELOPMENT PROCESS Leading patient group representation One-day workshop briefings from key stakeholders structured discussions gaps and opportunities consensus recommendations

WHAT ARE WE SEEKING TO ACHIEVE Clear, accurate and focused, evidence-based review A landmark policy document and a reference point for change A launch event that kick starts our public affairs process with a view to driving forward implementation of the proposals

DECLARATION OF INTERESTS Funding for Genetic Alliance UK Resource for the running of the organisation and its projects comes from a wide range of funders, including national governments, the European Union, the pharmaceutical industry, medical research charities, and other grant provision organisations. All of our income is reported here: www.geneticalliance.org.uk/annual-reports/ Ethical collaboration policy All activities are defined and independently designed by the staff with the approval of our trustees. All of our funding relationships are governed by our ethical collaboration policy, which prohibits funders from influencing the outcomes of our work. This can be read here: www.geneticalliance.org.uk/ethical collaborationpolicy/