Asked by: Alan Meale (Labour - Mansfield)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health, if he will provide an update on his Department's work on the 100,000 Genomes Project; and if he will make a statement.
Answered by Baroness Blackwood of North Oxford
The 100,000 Genomes Project is making good progress. The project is at the leading edge of global science, developing ground breaking new techniques and protocols.
Genomics England has developed semi-automated bioinformatics to analyse genomic data to find the cause of disease. To date, over 29,000 whole genomes have been sequenced and reports are already being returned to the National Health Service who are responsible for discussing clinical interpretations and next steps with patients.
The project is already changing the lives of patients with a rare disease – providing many patients with diagnoses for the first time, often after years of uncertainty and distress whilst helping to reduce considerable costs to health and social care budgets.
Genomics England and NHS England are actively developing a fast track pipeline for patients with cancer who are participating in the Project. We are aiming to reduce the time from sample acquisition to the return of a report to four weeks. This will increase the utility of the service to clinicians and patients alike.
Asked by: Alan Meale (Labour - Mansfield)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health, what steps his Department is taking to help all clinical commissioning groups to provide adequate access to genetic cascade testing services for familial hypercholesterolemia in their areas.
Answered by Baroness Blackwood of North Oxford
NHS England and Public Health England are working to raise the profile of familial hypercholesterolaemia (FH) and break down the barriers to genetic testing. Specifically, FH is emphasised in the NHS England Prevention aide memoire to support Sustainability and Transformation Planning, which is available at:
www.england.nhs.uk/wp-content/uploads/2016/05/stp-aide-memoire-prevention.pdf
NHS England’s National Clinical Director for heart disease chairs an FH steering group which comprises representatives from relevant stakeholder organisations, including Public Health England. This group, with funding from the British Heart Foundation, has established FH specialist nurses in many areas of England, aimed at increasing FH cascade testing across the country so that more affected families can be identified. The steering group aims to develop a systems approach to the detection and management of FH.
One third of England is now covered by these FH nurses as well as cascade testing, and over the last three years more than 1,000 new people with FH have been identified.
Software to support cascade testing and provide a database for FH is available and will be increasingly used in England as FH services are established.
NHS England has also identified FH as a possible condition that it could focus on as part of the work looking into personalised medicine and how the NHS might make better use of increased genetic testing.
Finally, a cholesterol test is included as part of the NHS Health Check that is mandated by the Health and Social Care Act for delivery across all local authorities in England. Revised NHS Best Practice Guidance published in February now includes strengthened guidance for detection of FH as part of the NHS Health Check. Every patient with a cholesterol test result above 7.5mmol/l (as per National Institute for Health and Care Excellence guidance) will be alerted to their general practitioner for consideration of FH in combination with other diagnostic criteria.
Asked by: Alan Meale (Labour - Mansfield)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health, what steps his Department is taking to ensure that diagnosis and management of familial hypercholesterolaemia is consistent across England.
Answered by Baroness Blackwood of North Oxford
NHS England and Public Health England are working to raise the profile of familial hypercholesterolaemia (FH) and break down the barriers to genetic testing. Specifically, FH is emphasised in the NHS England Prevention aide memoire to support Sustainability and Transformation Planning, which is available at:
www.england.nhs.uk/wp-content/uploads/2016/05/stp-aide-memoire-prevention.pdf
NHS England’s National Clinical Director for heart disease chairs an FH steering group which comprises representatives from relevant stakeholder organisations, including Public Health England. This group, with funding from the British Heart Foundation, has established FH specialist nurses in many areas of England, aimed at increasing FH cascade testing across the country so that more affected families can be identified. The steering group aims to develop a systems approach to the detection and management of FH.
One third of England is now covered by these FH nurses as well as cascade testing, and over the last three years more than 1,000 new people with FH have been identified.
Software to support cascade testing and provide a database for FH is available and will be increasingly used in England as FH services are established.
NHS England has also identified FH as a possible condition that it could focus on as part of the work looking into personalised medicine and how the NHS might make better use of increased genetic testing.
Finally, a cholesterol test is included as part of the NHS Health Check that is mandated by the Health and Social Care Act for delivery across all local authorities in England. Revised NHS Best Practice Guidance published in February now includes strengthened guidance for detection of FH as part of the NHS Health Check. Every patient with a cholesterol test result above 7.5mmol/l (as per National Institute for Health and Care Excellence guidance) will be alerted to their general practitioner for consideration of FH in combination with other diagnostic criteria.