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/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/228709", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/228709/answer", "answerText" : {"_value" : "
The UK National Screening Committee makes recommendations on whole population screening programmes. It is for the National Institute for Health and Care Excellence or its accredited guideline producing bodies to recommend care and testing of people at high risk.<\/p>
<\/p>
<\/p>
<\/p>
NHS England has commissioning arrangements in place for carrier testing for Tay Sachs disease for at risk populations. Genetic testing will be undertaken where there is a known family history, which indicates a risk of the specific condition or in response to the individual\u2019s clinical symptoms. In the absence of a family history or clinical symptoms it is the responsibility of clinical commissioning groups based on their local needs as to whether they fund referrals to clinical genetics for carrier screening for Tay Sachs disease.<\/p>
<\/p>
<\/p>
<\/p>
Genomics offers a great opportunity to improve our insight into genetic diseases. It is for this reason that the Government launched a world-leading project to sequence 100,000 genomes from National Health Service patients and established Genomics England, a subsidiary of the Department, to deliver the project.<\/p>
<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/2000", "label" : {"_value" : "Biography information for Earl Howe"} } , "answeringMemberPrinted" : {"_value" : "Earl Howe"} , "dateOfAnswer" : {"_value" : "2015-03-25", "_datatype" : "dateTime"} , "groupedQuestionUIN" : [{"_value" : "HL5892"} , {"_value" : "HL5893"} , {"_value" : "HL5894"} ], "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2015-03-25T14:05:28.233Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health"} , "answeringDeptSortName" : {"_value" : "Health"} , "date" : {"_value" : "2015-03-19", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "2"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25277", "prefLabel" : {"_value" : "House of Lords"} } ], "questionText" : "To ask Her Majesty\u2019s Government which organisation or body is responsible for assessing the needs of the local population for carrier screening for genetic disorders in at risk populations without an established family history.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/3756", "label" : {"_value" : "Biography information for Baroness Deech"} } , "tablingMemberPrinted" : [{"_value" : "Baroness Deech"} ], "uin" : "HL5891"} , {"_about" : "http://data.parliament.uk/resources/228711", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/228711/answer", "answerText" : {"_value" : "
The UK National Screening Committee makes recommendations on whole population screening programmes. It is for the National Institute for Health and Care Excellence or its accredited guideline producing bodies to recommend care and testing of people at high risk.<\/p>
<\/p>
<\/p>
<\/p>
NHS England has commissioning arrangements in place for carrier testing for Tay Sachs disease for at risk populations. Genetic testing will be undertaken where there is a known family history, which indicates a risk of the specific condition or in response to the individual\u2019s clinical symptoms. In the absence of a family history or clinical symptoms it is the responsibility of clinical commissioning groups based on their local needs as to whether they fund referrals to clinical genetics for carrier screening for Tay Sachs disease.<\/p>
<\/p>
<\/p>
<\/p>
Genomics offers a great opportunity to improve our insight into genetic diseases. It is for this reason that the Government launched a world-leading project to sequence 100,000 genomes from National Health Service patients and established Genomics England, a subsidiary of the Department, to deliver the project.<\/p>
<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/2000", "label" : {"_value" : "Biography information for Earl Howe"} } , "answeringMemberPrinted" : {"_value" : "Earl Howe"} , "dateOfAnswer" : {"_value" : "2015-03-25", "_datatype" : "dateTime"} , "groupedQuestionUIN" : [{"_value" : "HL5891"} , {"_value" : "HL5892"} , {"_value" : "HL5894"} ], "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2015-03-25T14:05:28.52Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health"} , "answeringDeptSortName" : {"_value" : "Health"} , "date" : {"_value" : "2015-03-19", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "2"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25277", "prefLabel" : {"_value" : "House of Lords"} } ], "questionText" : "To ask Her Majesty\u2019s Government which government department or organisation or body in the National Health Service is currently responsible for setting or determining the national policy for carrier screening for (1) Tay Sachs disease, (2) Familial Dysautonomia and Canavan disease, and (3) other severe inherited genetic disorders, in at risk populations without an established family history.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/3756", "label" : {"_value" : "Biography information for Baroness Deech"} } , "tablingMemberPrinted" : [{"_value" : "Baroness Deech"} ], "uin" : "HL5893"} , {"_about" : "http://data.parliament.uk/resources/228712", "AnsweringBody" : [{"_value" : "Department of Health"} ], "answer" : {"_about" : "http://data.parliament.uk/resources/228712/answer", "answerText" : {"_value" : "
The UK National Screening Committee makes recommendations on whole population screening programmes. It is for the National Institute for Health and Care Excellence or its accredited guideline producing bodies to recommend care and testing of people at high risk.<\/p>
<\/p>
<\/p>
<\/p>
NHS England has commissioning arrangements in place for carrier testing for Tay Sachs disease for at risk populations. Genetic testing will be undertaken where there is a known family history, which indicates a risk of the specific condition or in response to the individual\u2019s clinical symptoms. In the absence of a family history or clinical symptoms it is the responsibility of clinical commissioning groups based on their local needs as to whether they fund referrals to clinical genetics for carrier screening for Tay Sachs disease.<\/p>
<\/p>
<\/p>
<\/p>
Genomics offers a great opportunity to improve our insight into genetic diseases. It is for this reason that the Government launched a world-leading project to sequence 100,000 genomes from National Health Service patients and established Genomics England, a subsidiary of the Department, to deliver the project.<\/p>
<\/p>"} , "answeringMember" : {"_about" : "http://data.parliament.uk/members/2000", "label" : {"_value" : "Biography information for Earl Howe"} } , "answeringMemberPrinted" : {"_value" : "Earl Howe"} , "dateOfAnswer" : {"_value" : "2015-03-25", "_datatype" : "dateTime"} , "groupedQuestionUIN" : [{"_value" : "HL5891"} , {"_value" : "HL5892"} , {"_value" : "HL5893"} ], "isMinisterialCorrection" : {"_value" : "false", "_datatype" : "boolean"} , "questionFirstAnswered" : [{"_value" : "2015-03-25T14:05:28.627Z", "_datatype" : "dateTime"} ]} , "answeringDeptId" : {"_value" : "17"} , "answeringDeptShortName" : {"_value" : "Health"} , "answeringDeptSortName" : {"_value" : "Health"} , "date" : {"_value" : "2015-03-19", "_datatype" : "dateTime"} , "hansardHeading" : {"_value" : "Hereditary Diseases"} , "houseId" : {"_value" : "2"} , "legislature" : [{"_about" : "http://data.parliament.uk/terms/25277", "prefLabel" : {"_value" : "House of Lords"} } ], "questionText" : "To ask Her Majesty\u2019s Government which government department, NHS organisation or body is currently responsible for commissioning carrier screening services for (1) Tay Sachs disease, (2) Familial Dysautonomia and Canavan disease, and (3) other severe inherited genetic disorders, in at risk populations without an established family history.", "registeredInterest" : {"_value" : "false", "_datatype" : "boolean"} , "tablingMember" : {"_about" : "http://data.parliament.uk/members/3756", "label" : {"_value" : "Biography information for Baroness Deech"} } , "tablingMemberPrinted" : [{"_value" : "Baroness Deech"} ], "uin" : "HL5894"} ], "itemsPerPage" : 10, "page" : 0, "startIndex" : 1, "totalResults" : 5, "type" : ["http://purl.org/linked-data/api/vocab#ListEndpoint", "http://purl.org/linked-data/api/vocab#Page"]} }