The Newsletter of the British Society for Human Genetics - EURASNET

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The Newsletter of theBritish Society for Human GeneticsIssue 39 June 20082BSHG NewsFrom thenewslettereditorHouse of Lords Science andTechnology Committee call forevidence on genomic medicine- a response from the British Society for HumanGeneticsRob Elles, Chairman, on behalf of the BSHGI am pleased to present anotherbumper edition of BSHG News, led byRob Elles’ response on behalf of theBSHG to the House of Lords’ call forevidence on genomic medicine. PaulRoberts from the ACC describes hiscolourful trip to India; and in the AGNCsection, Rob Newton from theNational NHS Genetics Education andDevelopment Centre in Birminghamdescribes the new initiative to appointseven Genetics Education Facilitatorsto help deliver its remit to supportgenetics educators. The CGG sectionhighlights Fred Kavalier’s seven yearrole as a primary care geneticist atGuy’s; Bill Newman’s article in theCGS section on the impact ofpharmacogenetics on clinical geneticswill be of interest to all members of thesociety; and Moira MacDonald reportson a workshop in Montpellier onalternative splicing and disease. Ourown Lord Genome is back from hiswell-earned break with his personalinside view of the House of Lords’deliberations.As the newsletter increases in size, theduties of editor are becomingaccordingly numerous; and I shouldlike to thank my colleagues David Batyand Kevin Kelly, who have kindlyoffered their services to help with theever-increasing workload.Helen Middleton-PriceSummary• The Genetics White Paper helped modernise and network specialised geneticsservices, but a new and resourced plan is needed if genomic medicine is to besuccessfully exploited in the NHS.• On the ground, patients and practitioners find weaknesses in translation fromresearch to clinic when this falls outside the remit of the National Institute forHealth Research programme.• Next generation genomic technologies will require assessment and the NHSgenetics network, medical specialties and pathology need to work more closely tofind the optimum service configuration, meet the challenges of managing change,and exploit the new technologies.• Factory-style technology solutions must not damage the link between the clinicand research.• The Human Genetics Commission provides effective oversight of legal andregulatory issues but the government must not lose focus on public engagementparticularly as genomic health and data security issues begin to overlap. Thepublic must feel it has a route to policy making.• Effective use of genomics in mainstream medicine will require education andinformation resources available to all levels of the NHS. Links between mainstreammedical disciplines and existing specialised genetics must be resourced and mustnot damage or de-focus specialised genetics as it exists.• Genomic medicine for inherited and non inherited conditions will increasingly focuson treatment following accurate diagnosis.• The NHS should be cautious about the implementation of genetic risk factor testsfor common diseases in a population context although these tests will be availablethough commercial providers. Transparent information would help safeguard thepublic.• Development of genomic medicine is as much an informatic as a technicalchallenge. Success will depend on international collaboration. Informatic toolsneed to be stabilised for use in healthcare. Integrating genomic data into theelectronic health record will depend upon developing standards. Above all theissue of maintaining public confidence in the security of personal information mustbe addressed.Policy frameworkThe most recent statement of Government policy in genomic medicine was the 2003White Paper Our Inheritance, Our Future. Its implementation strengthened theframework for specialist genetics services around the new UK Genetic TestingNetwork and modernised laboratory services with a round of capital funding.However the short half life of genomic technologies means that the services will be
The Newsletter of theBritish Society for Human GeneticsIssue 39 June 20083BSHG News“The BSHG is concerned about weaknessesin the chain leading to translation intoclinical practice”faced with a need to re-capitalise in thenext 3-5 years and the Governmentshould consider recurrent mechanisms toensure that the NHS maintains costeffective access to appropriatetechnology platforms.The Government’s advisory mechanismsto anticipate developments and addressregulation were rationalised under theHuman Genetics Commission whichremains an authoritative and respectedgroup. From a European and trans-Atlantic perspective the UK is seen ashaving an organised, rational andeffective approach to genomic medicinepolicy and service delivery. The UK hasbuilt on this experience leading some keyinternational policy initiatives; helping toset a framework of standards formolecular genetic testing through theOrganisation for Economic Co-operationand Development and establishingtranslational research networks throughEuropean Union funded partnerships.However, the BSHG is concerned aboutweaknesses in the chain leading totranslation into clinical practice, eg:despite successes through the UKGenetic Testing Network, the widespreadexperience of the clinical geneticscommunity is that translation of geneticresearch into medical practice isretarded, and access to services isgeographically inequitable because ofthis funding gap. It is telling that manypatient groups are driven to fundtranslation to the point where a businesscase for a stable NHS service can be putto NHS Commissioners. There are manyexamples include translating into practicenew diagnostic tests for cystic fibrosis,familial breast cancer, genetic eyeconditions and cardiac conditions.Unfortunately, the strong impression ofthe genetic medicine community is thatat this early stage the National Institutefor Health Research does not interpret itsremit as extending to support for theevaluation of research-based diagnostictests in NHS service laboratories leadingto their implementation in the clinic.Recommendation 1. The BSHGrecommends that NIHR supports aprogramme to evaluate and implementindividual genetic diagnostic tests withinthe NHS and that the Government plansfor the resource needs of genomicmedicine in the NHS.Recommendation 2: The BSHGrecommends that structural linksbetween pathology modernisation andgenetics should be established tofacilitate the optimum serviceconfiguration for genomic diagnostics.When appropriate, the NHS shouldcommission a Health TechnologyAssessment of next generation genomictechnologies. The needs of the wholehealth service should be considered inthis study.Social, ethical and legal considerationsScience and clinical policy decisionmaking is embedded in ethical practiceunder the oversight of the HumanGenetics Commission. The UK has astrong framework for training andeducation and the governance of clinicalpractice. This has been developedthrough professional bodies under theumbrella of the British Society for HumanGenetics representing doctors,counsellors and scientists. In addition,guidance is available through focussedefforts (the Genethics Club) and specialistresearch (the Genetics Knowledge Parks,Ethox Centre and the Economic andSocial Sciences Research Council’sGenomics Network)Genomic medicine offers the promise ofbetter diagnosis, treatment and care, yetit also challenges the very nature of therelationship between the clinicalcommunity and the public. We believethat it is the duty of the geneticscommunity to help empower citizens tomake personal health managementdecisions.In 2003, in the Genetics White Paper, theGovernment recognised the power ofgenetics in a post-genome NHS, alongwith the possibility of its rejection by thepublic, through lack of trust orunderstanding.In order to address this, Governmentshould develop the infrastructure andfunding a national programme of rigorouspublic engagement that will bring aboutinformed input into health and healthcarepolicy decisions surrounding genetic andgenomic medicine. To achieve a maturepublic dialogue, we would expect such aprogramme to contain the following:• Effective knowledge and informationdissemination about genetic andgenomic medicine;• Use of imaginative and novel modes ofengagement;• Understanding what the public thinksand why they think in this way;• Informing decision and policy-makingthrough the use of extensive valid andreliable public and patient consultation;• Aiming towards public and patientrepresentation at committee level.In view of the above the BSHG regretsthe Government decision to prematurelyend support for the Genetics Knowledge
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