Asked by: Cat Smith (Labour - Lancaster and Fleetwood)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether postural tachycardia syndrome is a rare disease as defined in the UK Rare Diseases Framework.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
The UK Rare Diseases Framework defines rare diseases as having a prevalence of lower than one in 2000 people. Postural Tachycardia Syndrome (PoTS) UK has estimated the prevalence of PoTS to be 0.2%, or four in 2000 people, which is higher than the definition of a rare disease under the framework.
The Government recognises the significant impact that PoTS symptoms can have on an individual’s life, and is committed to ensuring those with PoTS have timely access to a diagnosis and appropriate treatment and services.
Asked by: Lisa Nandy (Labour - Wigan)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether she is taking steps to improve the (a) diagnosis rate, (b) co-ordination of care and (c) access to specialist (i) care, (ii) treatment and (iii) support for hereditary spastic paraplegia.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
In January 2021, the Government published the UK Rare Diseases Framework providing a national vision for how to improve the lives of those living with rare diseases such as hereditary spastic paraplegia. The framework lists four priorities collaboratively developed with the rare disease community: helping patients get a final diagnosis faster, increasing awareness of rare diseases among healthcare professionals, better coordination of care, improving access to specialist care, treatments and drugs.
Each year since 2021 we have published an England Rare Diseases Action Plan. On 29 February 2024, we published the third England Rare Diseases Action Plan, which is working to address these priorities across all rare diseases. Increasing awareness among healthcare professionals contributes to improved care, treatment and support for those living with rare conditions. NHS England has developed a digital resource “GeNotes” to support healthcare professionals, which includes information on hereditary spastic paraplegia.
Asked by: Lisa Nandy (Labour - Wigan)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, what steps is she taking to provide people living with a rare disease equitable access to (a) diagnosis, (b) treatment, and (c) care.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
In January 2021, the Government published the UK Rare Diseases Framework providing a national vision for how to improve the lives of those living with rare diseases. The framework lists four priorities collaboratively developed with the rare disease community: helping patients get a final diagnosis faster, increasing awareness of rare diseases among healthcare professionals, better coordination of care, improving access to specialist care, treatments and drugs. The principles of the UK Rare Diseases Framework commit the four nations to “ensure any impacts on health inequalities are considered when developing action plans”.
Each year since 2021 we have published an England Rare Diseases Action Plan. On 29 February 2024, we published the third England Rare Diseases Action Plan, which is working to address these priorities. Several actions have been committed to in this year’s and previous years’ action plans that relate to equitable access to diagnosis, treatment, and care.
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether she is taking steps to reduce regional variations in outcomes for patients with (a) hypertrophic cardiomyopathy and (b) other inherited cardiac conditions.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
Hypertrophic cardiomyopathy, along with other inherited cardiac conditions, is included on the National Genomic Test Directory. The directory sets out the eligibility criteria for patients to access testing, as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing. The directory also enables the testing of family members as part of cascade testing. A robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit. This is supported by a horizon scanning process and fast track application system to ensure the directory can respond quickly to emerging developments. Testing is available for all eligible patients across the whole of England. The National Genomic Test Directory is available at the following link:
https://www.england.nhs.uk/publication/national-genomic-test-directories/
On raising awareness, the seven NHS Genomic Medicine Service Alliances also play an important role in supporting the strategic and systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities, supporting the achievement of equitable access to standardised end-to-end pathways of care, inclusive of genomic testing. They also support clinical genetics and genomic counselling services, as well as raising awareness among clinicians and the public of the genomic testing available through the National Health Service.
Furthermore, the 17 NHS Clinical Genomic Services, commissioned by NHS England, deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not hold specific information on how many people were diagnosed with hypertrophic cardiomyopathy in 2020, 2021 or 2022, although hypertrophic cardiomyopathy is thought to affect 1 in 500 people in the United Kingdom. Further information is available at the following link:
https://www.nhs.uk/conditions/cardiomyopathy/
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether she is taking steps to reduce regional variations in diagnosis rates of (a) hypertrophic cardiomyopathy and (b) other inherited cardiac conditions.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
Hypertrophic cardiomyopathy, along with other inherited cardiac conditions, is included on the National Genomic Test Directory. The directory sets out the eligibility criteria for patients to access testing, as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing. The directory also enables the testing of family members as part of cascade testing. A robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit. This is supported by a horizon scanning process and fast track application system to ensure the directory can respond quickly to emerging developments. Testing is available for all eligible patients across the whole of England. The National Genomic Test Directory is available at the following link:
https://www.england.nhs.uk/publication/national-genomic-test-directories/
On raising awareness, the seven NHS Genomic Medicine Service Alliances also play an important role in supporting the strategic and systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities, supporting the achievement of equitable access to standardised end-to-end pathways of care, inclusive of genomic testing. They also support clinical genetics and genomic counselling services, as well as raising awareness among clinicians and the public of the genomic testing available through the National Health Service.
Furthermore, the 17 NHS Clinical Genomic Services, commissioned by NHS England, deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not hold specific information on how many people were diagnosed with hypertrophic cardiomyopathy in 2020, 2021 or 2022, although hypertrophic cardiomyopathy is thought to affect 1 in 500 people in the United Kingdom. Further information is available at the following link:
https://www.nhs.uk/conditions/cardiomyopathy/
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether she is taking steps to increase the number of genetic councillors for hypertrophic cardiomyopathy.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
Hypertrophic cardiomyopathy, along with other inherited cardiac conditions, is included on the National Genomic Test Directory. The directory sets out the eligibility criteria for patients to access testing, as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing. The directory also enables the testing of family members as part of cascade testing. A robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit. This is supported by a horizon scanning process and fast track application system to ensure the directory can respond quickly to emerging developments. Testing is available for all eligible patients across the whole of England. The National Genomic Test Directory is available at the following link:
https://www.england.nhs.uk/publication/national-genomic-test-directories/
On raising awareness, the seven NHS Genomic Medicine Service Alliances also play an important role in supporting the strategic and systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities, supporting the achievement of equitable access to standardised end-to-end pathways of care, inclusive of genomic testing. They also support clinical genetics and genomic counselling services, as well as raising awareness among clinicians and the public of the genomic testing available through the National Health Service.
Furthermore, the 17 NHS Clinical Genomic Services, commissioned by NHS England, deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not hold specific information on how many people were diagnosed with hypertrophic cardiomyopathy in 2020, 2021 or 2022, although hypertrophic cardiomyopathy is thought to affect 1 in 500 people in the United Kingdom. Further information is available at the following link:
https://www.nhs.uk/conditions/cardiomyopathy/
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether her Department is taking steps to raise awareness of hypertrophic cardiomyopathy in young people.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
Hypertrophic cardiomyopathy, along with other inherited cardiac conditions, is included on the National Genomic Test Directory. The directory sets out the eligibility criteria for patients to access testing, as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing. The directory also enables the testing of family members as part of cascade testing. A robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit. This is supported by a horizon scanning process and fast track application system to ensure the directory can respond quickly to emerging developments. Testing is available for all eligible patients across the whole of England. The National Genomic Test Directory is available at the following link:
https://www.england.nhs.uk/publication/national-genomic-test-directories/
On raising awareness, the seven NHS Genomic Medicine Service Alliances also play an important role in supporting the strategic and systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities, supporting the achievement of equitable access to standardised end-to-end pathways of care, inclusive of genomic testing. They also support clinical genetics and genomic counselling services, as well as raising awareness among clinicians and the public of the genomic testing available through the National Health Service.
Furthermore, the 17 NHS Clinical Genomic Services, commissioned by NHS England, deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not hold specific information on how many people were diagnosed with hypertrophic cardiomyopathy in 2020, 2021 or 2022, although hypertrophic cardiomyopathy is thought to affect 1 in 500 people in the United Kingdom. Further information is available at the following link:
https://www.nhs.uk/conditions/cardiomyopathy/
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, how many people have hypertrophic cardiomyopathy.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
Hypertrophic cardiomyopathy, along with other inherited cardiac conditions, is included on the National Genomic Test Directory. The directory sets out the eligibility criteria for patients to access testing, as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing. The directory also enables the testing of family members as part of cascade testing. A robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit. This is supported by a horizon scanning process and fast track application system to ensure the directory can respond quickly to emerging developments. Testing is available for all eligible patients across the whole of England. The National Genomic Test Directory is available at the following link:
https://www.england.nhs.uk/publication/national-genomic-test-directories/
On raising awareness, the seven NHS Genomic Medicine Service Alliances also play an important role in supporting the strategic and systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities, supporting the achievement of equitable access to standardised end-to-end pathways of care, inclusive of genomic testing. They also support clinical genetics and genomic counselling services, as well as raising awareness among clinicians and the public of the genomic testing available through the National Health Service.
Furthermore, the 17 NHS Clinical Genomic Services, commissioned by NHS England, deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not hold specific information on how many people were diagnosed with hypertrophic cardiomyopathy in 2020, 2021 or 2022, although hypertrophic cardiomyopathy is thought to affect 1 in 500 people in the United Kingdom. Further information is available at the following link:
https://www.nhs.uk/conditions/cardiomyopathy/
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, how many people were diagnosed with hypertrophic cardiomyopathy in (a) 2020, (b) 2021 and (c) 2022.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
Hypertrophic cardiomyopathy, along with other inherited cardiac conditions, is included on the National Genomic Test Directory. The directory sets out the eligibility criteria for patients to access testing, as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing. The directory also enables the testing of family members as part of cascade testing. A robust and evidence-based process and policy is in place to ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit. This is supported by a horizon scanning process and fast track application system to ensure the directory can respond quickly to emerging developments. Testing is available for all eligible patients across the whole of England. The National Genomic Test Directory is available at the following link:
https://www.england.nhs.uk/publication/national-genomic-test-directories/
On raising awareness, the seven NHS Genomic Medicine Service Alliances also play an important role in supporting the strategic and systematic embedding of genomic medicine in end-to-end clinical pathways and clinical specialities, supporting the achievement of equitable access to standardised end-to-end pathways of care, inclusive of genomic testing. They also support clinical genetics and genomic counselling services, as well as raising awareness among clinicians and the public of the genomic testing available through the National Health Service.
Furthermore, the 17 NHS Clinical Genomic Services, commissioned by NHS England, deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment, and lifelong clinical management of patients of all ages and their families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not hold specific information on how many people were diagnosed with hypertrophic cardiomyopathy in 2020, 2021 or 2022, although hypertrophic cardiomyopathy is thought to affect 1 in 500 people in the United Kingdom. Further information is available at the following link:
https://www.nhs.uk/conditions/cardiomyopathy/
Asked by: Virendra Sharma (Labour - Ealing, Southall)
Question to the Department of Health and Social Care:
To ask the Secretary of State for Health and Social Care, whether she is taking steps to raise awareness of inherited cardiac conditions among GPs.
Answered by Andrew Stephenson - Minister of State (Department of Health and Social Care)
We are not aware of plans to introduce a national leadership role for inherited cardiac conditions. However, NHS England, through the National Genomics Education Team, also deliver and advise on learning and development opportunities that prepare current and future National Health Service professionals to make the best use of genomics in their practice.
Furthermore, the National Genomic Test Directory sets out the eligibility criteria for patients to access testing as well as the genomic targets to be tested, the method that should be used, and the healthcare professional that can request the test, including when a general practice can request testing.
This includes the development of resources to support the workforce across the entire care continuum, for example, in the case of familial hypercholesterolaemia this would include the whole multi-professional team, inclusive of primary care. Furthermore, the Genomic Training
Academy will begin offering education and training through virtual and in person learning for the specialist genomics workforce, including laboratory and clinical staff.
NHS Clinical Genomic Services deliver a comprehensive clinical genomic and counselling service that directs the diagnosis, risk assessment and lifelong clinical management of patients of all ages including families who have, or are at risk of having, a rare genetic or genomic condition. The Department does not have any direct plans to introduce self-referral forms for family members of people with genetic cardiac conditions.