The 100,000 Genomes Project is focussed on recruiting patients, including children, with rare diseases (and their family members) and those with common cancers. These are areas where whole genome sequencing may offer the best opportunity to diagnose disease. From the Project\u2019s pilot phase we have found actionable findings in 20-25% of rare disease patients.<\/p>
<\/p>
The scope of the project does not include screening at birth. The Chief Medical Officer, in her annual report Generation Genome, recommended that that the National Screening Committee conducts a systematic evaluation of the opportunities offered by genomics for present and potential screening practices.<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/4008", "label" : {"_value" : "Biography information for Dame Caroline Dinenage"} } , "answeringMemberConstituency" : {"_value" : "Gosport"} , "answeringMemberPrinted" : {"_value" : "Caroline Dinenage"} , "dateOfAnswer" : {"_value" : "2018-04-30", "_datatype" : "dateTime"} , "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2018-04-30T15:41:08.457Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health and Social Care"} , "answeringDeptSortName" : {"_value" : "Health and Social Care"} , "date" : {"_value" : "2018-04-25", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "1"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"} } ], "questionText" : "to ask the Secretary of State for Health and Social Care, what lessons have been learned from the 100,000 Genome Project which will help when deciding what genetic diseases should be screened for at birth.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/4621", "label" : {"_value" : "Biography information for Darren Jones"} } , "tablingMemberConstituency" : {"_value" : "Bristol North West"} , "tablingMemberPrinted" : [{"_value" : "Darren Jones"} ], "uin" : "138095"} , {"_about" : "http://data.parliament.uk/resources/91630", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/91630/answer", "answerText" : {"_value" : "
The Government\u2019s position that mitochondrial donation techniques do not alter personal characteristics and traits of the person reflects information within the April 2011 scientific report of the Human Fertilisation and Embryology Authority convened Expert Panel. The Expert Panel membership at that time included Professor Peter Braude and Professor Robin Lovell-Badge.<\/p>
<\/p>
<\/p>
<\/p>
The working definition of genetic modification in humans, in relation to mitochondrial donation, was determined by the Department in consultation with the Chief Medical Officer for England.<\/p>
<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/4020", "label" : {"_value" : "Biography information for George Freeman"} } , "answeringMemberConstituency" : {"_value" : "Mid Norfolk"} , "answeringMemberPrinted" : {"_value" : "George Freeman"} , "dateOfAnswer" : {"_value" : "2014-10-13", "_datatype" : "dateTime"} , "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2014-10-13T14:19:49.5212012Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health"} , "answeringDeptSortName" : {"_value" : "Health"} , "date" : {"_value" : "2014-09-11", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "1"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"} } ], "questionText" : "To ask the Secretary of State for Health, with reference to the Government response to the consultation on draft regulations to permit the use of new treatment techniques to prevent the transmission of a serious mitochondrial disease from mother to child, published in July 2014, whether his Department consulted (a) Dr Andy Greenfield, (b) Professor Peter Braude and (c) Professor Robin Lovell-Badge on the formulation of the statement on page 15 that (i) mitochondrial donation techniques do not alter personal characteristics and traits of the person and (ii) the proposed mitochondrial donation techniques do not constitute genetic modification.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/1569", "label" : {"_value" : "Biography information for Robert Flello"} } , "tablingMemberConstituency" : {"_value" : "Stoke-on-Trent South"} , "tablingMemberPrinted" : [{"_value" : "Robert Flello"} ], "uin" : "209135"} , {"_about" : "http://data.parliament.uk/resources/179004", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/179004/answer", "answerText" : {"_value" : "
The Human Fertilisation and Embryology Authority has advised that if Parliament passes the Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015, it will need to design a regulatory process of which the consideration of \u201csignificant risk\u201d is a part. In designing that process it will take into account, where relevant, the existing regulatory process for embryo testing (preimplantation genetic diagnosis).<\/p>
<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/3918", "label" : {"_value" : "Biography information for Jane Ellison"} } , "answeringMemberConstituency" : {"_value" : "Battersea"} , "answeringMemberPrinted" : {"_value" : "Jane Ellison"} , "dateOfAnswer" : {"_value" : "2015-02-23", "_datatype" : "dateTime"} , "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2015-02-23T16:05:17.44Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health"} , "answeringDeptSortName" : {"_value" : "Health"} , "date" : {"_value" : "2015-02-10", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "1"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"} } ], "questionText" : "To ask the Secretary of State for Health, with reference to Part 5 (a) (ii) of the Mitochndrial Donation Regulations 2015, how the Human Fertilisation and Embryology Authority plans to define a \"significant risk\" of having or developing serious mitochondrial disease.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/1569", "label" : {"_value" : "Biography information for Robert Flello"} } , "tablingMemberConstituency" : {"_value" : "Stoke-on-Trent South"} , "tablingMemberPrinted" : [{"_value" : "Robert Flello"} ], "uin" : "224080"} , {"_about" : "http://data.parliament.uk/resources/686170", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/686170/answer", "answerText" : {"_value" : "
The Human Fertilisation and Embryology Authority decided on 15 December 2016 to allow the use mitochondrial donation for risk reduction treatments in certain cases where alternative treatments would be of little or no benefit to mothers at risk of passing mitochondrial disease onto their children. This decision was taken after considering the independent Expert Panel\u2019s fourth report on the latest evidence of safety and efficacy and following a comprehensive and rigorous process of assessment and review of the scientific evidence over the last six years. Before any treatment is offered to affected families, there are still two more licencing processes to be completed. The first to ensure that the clinic meets the required suitability standards and the second a case by case assessment of each individual as required by the Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015.<\/p>
<\/p>
NHS England is the designated commissioner of the National Health Service service for mitochondrial donation and will fund the treatment costs of the service, alongside an evaluative research project funded by the Wellcome Trust, which will assess and monitor follow-up and outcomes.<\/p>
<\/p>
Mitochondrial donation does not fit within the definition in law of a clinical trial for the purpose of compliance with the EU Clinical Trial Directive 2001/20/EC. The Directive relates to clinical trials of medicinal products governed by the medicines licensing regime set out in the Medicinal Products Directive and is part of a suite of European measures which set out common rules across the European Union to ensure the free movement of safe medicines.<\/p>
<\/p>
The Government does not agree with the characterisation of mitochondrial donation as a form of genetic modification. The mitochondrial donation techniques do not involve the germ-line modification of nuclear DNA in the chromosomes that can be passed on to future generations, which is the Chief Medical Officer\u2019s working definition of genetic modification in humans.<\/p>
<\/p>
NHS England nationally commissions the rare mitochondrial disease service for adults and children, which provides a comprehensive diagnostic service for patients suffering from mitochondrial disease.<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/4019", "label" : {"_value" : "Biography information for Baroness Blackwood of North Oxford"} } , "answeringMemberConstituency" : {"_value" : "Oxford West and Abingdon"} , "answeringMemberPrinted" : {"_value" : "Nicola Blackwood"} , "dateOfAnswer" : {"_value" : "2017-02-10", "_datatype" : "dateTime"} , "groupedQuestionUIN" : {"_value" : "63363"} , "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2017-02-10T09:50:02.133Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health"} , "answeringDeptSortName" : {"_value" : "Health"} , "date" : {"_value" : "2017-02-07", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "1"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"} } ], "questionText" : "To ask the Secretary of State for Health, whether his Department funds alternative treatments for mitochondrial disorders that (a) can treat those born with mitochondrial disease and (b) do not involve the creation of genetically modified human embryos; and what plans he has to do so in the future.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/3958", "label" : {"_value" : "Biography information for Fiona Bruce"} } , "tablingMemberConstituency" : {"_value" : "Congleton"} , "tablingMemberPrinted" : [{"_value" : "Fiona Bruce"} ], "uin" : "63365"} , {"_about" : "http://data.parliament.uk/resources/177189", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/177189/answer", "answerText" : {"_value" : "
The UK National Screening Committee (UK NSC) advises Ministers and the National Health Service in all four countries about all aspects of screening policy and supports implementation.<\/p>
<\/p>
<\/p>
<\/p>
The UK NSC is currently reviewing newborn screening for very long chain acyl CoA dehydrogenase deficiency (VLCADD) against its internationally recognised criteria. A public consultation on the screening review opened on 21 November 2014 and will close on 23 February 2015. A copy of the consultation is available at:<\/p>
<\/p>
<\/p>
<\/p>
http://www.screening.nhs.uk/fattyacidoxidation<\/a><\/p> <\/p> <\/p> <\/p> Improving education and awareness of rare diseases across the healthcare professions, including VLCADD, is a commitment in the UK Strategy for Rare Diseases. The Department continues to work closely with its delivery partners to implement the Strategy.<\/p> <\/p>"}
, "answeringMember" : {"_about" : "http://data.parliament.uk/members/3932", "label" : {"_value" : "Biography information for Dr Dan Poulter"}
}
, "answeringMemberConstituency" : {"_value" : "Central Suffolk and North Ipswich"}
, "answeringMemberPrinted" : {"_value" : "Dr Daniel Poulter"}
, "dateOfAnswer" : {"_value" : "2015-02-09", "_datatype" : "dateTime"}
, "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"}
, "questionFirstAnswered" : [{"_value" : "2015-02-09T15:58:41.897Z", "_datatype" : "dateTime"}
]}
, "answeringDeptId" : {"_value" : "17"}
, "answeringDeptShortName" : {"_value" : "Health"}
, "answeringDeptSortName" : {"_value" : "Health"}
, "date" : {"_value" : "2015-02-02", "_datatype" : "dateTime"}
, "hansardHeading" : {"_value" : "Hereditary Diseases"}
, "houseId" : {"_value" : "1"}
, "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"}
}
], "questionText" : "To ask the Secretary of State for Health, what steps his Department has taken to help early diagnosis of very long-chain acyl-CoA dehydrogenase deficiency.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"}
, "tablingMember" : {"_about" : "http://data.parliament.uk/members/3985", "label" : {"_value" : "Biography information for Robert Halfon"}
}
, "tablingMemberConstituency" : {"_value" : "Harlow"}
, "tablingMemberPrinted" : [{"_value" : "Robert Halfon"}
], "uin" : "222853"}
, {"_about" : "http://data.parliament.uk/resources/171143", "AnsweringBody" : [{"_value" : "Department of Health"}
], "answer" : {"_about" : "http://data.parliament.uk/resources/171143/answer", "answerText" : {"_value" : " Raising awareness of all rare diseases amongst practitioners and the public, including very long chain acyl-CoA dehydrogenase deficiency, is a commitment in the UK Strategy for Rare Diseases. The Department continues to work closely with NHS England to implement this commitment.<\/p> <\/p>"}
, "answeringMember" : {"_about" : "http://data.parliament.uk/members/3918", "label" : {"_value" : "Biography information for Jane Ellison"}
}
, "answeringMemberConstituency" : {"_value" : "Battersea"}
, "answeringMemberPrinted" : {"_value" : "Jane Ellison"}
, "dateOfAnswer" : {"_value" : "2015-01-05", "_datatype" : "dateTime"}
, "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"}
, "questionFirstAnswered" : [{"_value" : "2015-01-05T16:21:42.08Z", "_datatype" : "dateTime"}
]}
, "answeringDeptId" : {"_value" : "17"}
, "answeringDeptShortName" : {"_value" : "Health"}
, "answeringDeptSortName" : {"_value" : "Health"}
, "date" : {"_value" : "2014-12-17", "_datatype" : "dateTime"}
, "hansardHeading" : {"_value" : "Hereditary Diseases"}
, "houseId" : {"_value" : "1"}
, "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"}
}
], "questionText" : "To ask the Secretary of State for Health, what steps he is taking to raise awareness of very long chain acyl-CoA dehydrogenase deficiency among (a) practitioners and (b) the public.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"}
, "tablingMember" : {"_about" : "http://data.parliament.uk/members/4243", "label" : {"_value" : "Biography information for Dan Jarvis"}
}
, "tablingMemberConstituency" : {"_value" : "Barnsley Central"}
, "tablingMemberPrinted" : [{"_value" : "Dan Jarvis"}
], "uin" : "219149"}
, {"_about" : "http://data.parliament.uk/resources/178544", "AnsweringBody" : [{"_value" : "Department of Health"}
], "answer" : {"_about" : "http://data.parliament.uk/resources/178544/answer", "answerText" : {"_value" : " The Government\u2019s analysis of estimated costs and benefits is contained in the Impact Assessment that was laid in Parliament, together with the Draft Human Fertilisation and Embryology (Mitochondrial Donation) Regulations 2015, on 17 December 2014.<\/p> <\/p> <\/p> <\/p> The cost over 10 years was estimated at £11.1 million with the monetised benefit estimated at £329.2 million.<\/p> <\/p>"}
, "answeringMember" : {"_about" : "http://data.parliament.uk/members/3918", "label" : {"_value" : "Biography information for Jane Ellison"}
}
, "answeringMemberConstituency" : {"_value" : "Battersea"}
, "answeringMemberPrinted" : {"_value" : "Jane Ellison"}
, "dateOfAnswer" : {"_value" : "2015-02-12", "_datatype" : "dateTime"}
, "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"}
, "questionFirstAnswered" : [{"_value" : "2015-02-12T17:20:11.13Z", "_datatype" : "dateTime"}
]}
, "answeringDeptId" : {"_value" : "17"}
, "answeringDeptShortName" : {"_value" : "Health"}
, "answeringDeptSortName" : {"_value" : "Health"}
, "date" : {"_value" : "2015-02-09", "_datatype" : "dateTime"}
, "hansardHeading" : {"_value" : "Hereditary Diseases"}
, "houseId" : {"_value" : "1"}
, "legislature" : [{"_about" : "http://data.parliament.uk/terms/25259", "prefLabel" : {"_value" : "House of Commons"}
}
], "questionText" : "To ask the Secretary of State for Health, what estimate he has made of the cost to the public purse of (a) treatments for mitochondrial disease involving mitochondrial donation and (b) treatments for mitochondrial disease that do not involve mitochondrial donation in each of the next five financial years.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"}
, "tablingMember" : {"_about" : "http://data.parliament.uk/members/4126", "label" : {"_value" : "Biography information for Mary Glindon"}
}
, "tablingMemberConstituency" : {"_value" : "North Tyneside"}
, "tablingMemberPrinted" : [{"_value" : "Mrs Mary Glindon"}
], "uin" : "223866"}
, {"_about" : "http://data.parliament.uk/resources/223632", "AnsweringBody" : [{"_value" : "Department of Health"}
], "answer" : {"_about" : "http://data.parliament.uk/resources/223632/answer", "answerText" : {"_value" : " The NHS Born in Bradford study found that although most babies born to a couple who are related do not have a genetic problem, consanguineous marriage can increase the risk of birth defect from 3% to 6%. Further information is available on the Born in Bradford website at:<\/p> <\/p> <\/p> <\/p>