NHS England is currently planning a large-scale in-service evaluation (ISE) of screening for spinal muscular atrophy (SMA), which is a genetic condition, in newborn screening services to start in January 2027. Over 400,000 babies would be offered screening as part of this ISE. The ISE will help inform a future UK NSC recommendation on whether screening for SMA should be added to the NHS Newborn Blood Spot Screening Programme (NBSP).

An ISE for severe combined immunodeficiency (SCID), another genetic condition, was undertaken in some newborn screening services in England from 2021 and concluded in 2024. During this period, 900,000 babies were screened, and 10 babies were found to have SCID. NHS England is planning to continue the SCID ISE alongside the ISE for SMA.

The Generation Study, which launched in 2024, is evaluating the effectiveness of using whole genome sequencing to test 100,000 newborns for genetic mutations associated with more than 200 rare genetic conditions. The sequencing of 100,000 newborns through the Generation Study will be completed by summer 2027.

The evaluation part of the study will then be completed and shared with the UK National Screening Committee (UK NSC) which advises ministers on all screening matters. The UK NSC will assess the findings to determine whether any newborn genomic screening can be recommended or whether more research is required.

These phrases were not included in any guidance issued by the National Health Service. They were included in training materials which also made clear the genetic risk associated with close relative marriage.

The Department had no role in the development, approval, or distribution of the training materials which included these phrases. The training materials were retired in 2025.

We fully recognise the genetic risks of consanguineous relationships, and we offer referral to genetics services so individuals understand the risks and can make informed decisions.

We are working with the NHS to look into how this training was developed, and to make sure it never happens again.

NHS England has published training modules about close relative marriage and genetic risk for midwives and health visitors. The training modules have been published for health professionals to access and there are no plans to publish them more widely. There are no plans to issue public facing guidance.

There are no plans to place the training modules on close relative marriage and genetic risk for midwives and health visitors, or the associated guidance on submitting data on consanguinity and pregnancy to the Maternity Services Dataset, in the library of the House of Commons.

The National Health Service in England supports patients with a variety of conditions related to genetics. NHS England is piloting and evaluating new models of care to improve the equity of access to genetic services for the small proportion of couples at increased genetic risk due to close relative marriage. NHS England is funding additional capacity in several professions, including midwifery, genomics associates, and neonatal nurses, in nine pilot sites through the Genetic Risk Equity Project. 3.8 whole time equivalent (WTE) midwives and one WTE neonatal nurse were in post in 2024/25 to deliver the Genetic Risk Equity Project.

NHS England has already published training modules about close relative marriage and genetic risk for midwives and health visitors, as well as guidance on how to submit data around consanguinity and pregnancy to the Maternity Services Dataset. The training modules have been published for health professionals to access and there are no plans to publish them more widely.

Genomic testing in the National Health Service in England is provided through the NHS Genomic Medicine Service and delivered by a national genomic testing network of seven NHS Genomic Laboratory Hubs (GLHs). The NHS GLHs deliver laboratory based genetic testing as directed by the National Genomic Test Directory (the Test Directory), which includes tests for over 7,000 rare diseases and over 200 cancer clinical indications, including both whole genome sequencing (WGS) and non-WGS testing. The Test Directory includes a range of tests for inherited cancer as part of its coverage of rare and inherited disease and cancer related genomic indications. Further information on the Test Directory is available at the following link:

https://www.england.nhs.uk/publication/national-genomic-test-directories/

The 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 clinical specialities able to request the test. A robust and evidence based process and policy is in place to routinely review the Test Directory and ensure that genomic testing continues to be available for all patients for whom it would be of clinical benefit, while delivering value for money for the NHS. Further information is available at the following link:

https://www.england.nhs.uk/genomics/the-national-genomic-test-directory/

Qualified general practitioners (GPs) are responsible for ensuring their own clinical knowledge remains up-to-date, and for identifying learning needs across their whole scope of practice. The Royal College of General Practitioners provides a number of resources on cancer prevention, diagnosis, and care for GPs, relevant for the primary care setting.

NHS England is supporting GPs in referring cancer patients earlier in various ways. This includes encouraging GP direct access to tests for patients who fall outside of urgent suspected cancer referrals and sharing evidence-based assessments of where cancer recognition and referral guidance could be improved with the National Institute for Health and Care Excellence, to inform referral updates. NHS England also funds Gateway-C, an early diagnosis education platform aimed at primary care.

Since assuming responsibility for the registration of congenital and rare conditions in 2015, the National Disease Registration Service (NDRS) has focused on improving the accuracy of case completeness and strengthening regional coverage to monitor trends in congenital and rare conditions. NDRS is reviewing the data items recommended for reporting of congenital conditions, including which information should be collected through specialist congenital condition registration datasets and which is better captured for all pregnancies through the Maternity Services Data Set. NDRS has not assessed completeness of the consanguinity field at a provider level. NHS England is working to improve the recording of consanguinity. NDRS continues to work closely with reporting trusts, maternity services, and clinical teams to improve the quality and completeness of congenital condition data, supported by a dedicated data liaison function.

Since assuming responsibility for the registration of congenital and rare conditions in 2015, the National Disease Registration Service (NDRS) has focused on improving the accuracy of case completeness and strengthening regional coverage to monitor trends in congenital and rare conditions. NDRS is reviewing the data items recommended for reporting of congenital conditions, including which information should be collected through specialist congenital condition registration datasets and which is better captured for all pregnancies through the Maternity Services Data Set. NDRS has not assessed completeness of the consanguinity field at a provider level. NHS England is working to improve the recording of consanguinity. NDRS continues to work closely with reporting trusts, maternity services, and clinical teams to improve the quality and completeness of congenital condition data, supported by a dedicated data liaison function.

No, the Department is not planning to publish any estimates or research on the annual cost to the public purse for the National Health Service of treating congenital and genetic disorders arising from consanguineous unions. The Department does not hold this information and has no plans to collect this information.

Genomic testing is delivered through the NHS Genomic Medicine Service and guided by the National Genomic Test Directory, which outlines the eligibility criteria for genomic testing. These criteria support clinicians to decide whether genetic testing is appropriate, including in cases where genetic disorders may be linked to consanguinity. Seventeen NHS Clinical Genetics Services are commissioned by NHS England and deliver a comprehensive clinical genetics and genetic 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 genetic condition. In addition, through the Genetic Risk Equity Project, NHS England is piloting and evaluating new models of care in nine sites to improve equity of access to genetic services for the small proportion of consanguineous couples at increased genetic risk. NHS England has published training modules about close relative marriage and genetic risk for midwives and health visitors, as well as guidance on how to submit data around consanguinity and pregnancy to the Maternity Services Dataset.

The responsibility to collect and report child deaths is held by the commissioning authority and local authorities’ Child Death Overview Panels (CDOPs), not National Health Service trusts. The Child Death Review statutory guidance requires NHS trusts to provide CDOPs with information to review a child’s death. This is done on an individual basis from the child's medical records and not from centrally held data within the NHS trust.

CDOPs and the National Child Mortality Database (NCMD) cannot comment on “other health outcomes attributable to parental consanguinity” because the CDOP process only applies to live born children who die before their 18th birthday.

The NCMD are preparing a thematic review of deaths to be published in 2026, which will report on the percentage of child death reviews that are attributed to chromosomal, genetic, and congenital anomalies, identifying consanguinity as a contributing factor.

The National Disease Registration Service (NDRS) in NHS England is directed by my Rt Hon. Friend, the Secretary of State for Health and Social Care to collect data and report on the prevalence of cancer, and congenital and rare conditions in England, and this includes genomic data where available. NDRS publishes official national statistics on the birth prevalence of congenital conditions in England, presented by geographical region and stratified by the presence or absence of a known genomic cause. Parental consanguinity is a data item within the NDRS congenital conditions dataset, but reporting remains incomplete across many data providers. As a result, the data is insufficient to support routine reporting on the birth prevalence of congenital conditions in consanguineous families. NDRS is working with hospital trusts to continually improve the quality and completeness of data. Other relevant initiatives include the Born in Bradford study, which provides valuable insights into congenital conditions and associated risk factors, including consanguinity, in a defined population. Further information on the NDRS is available at the following link:

https://digital.nhs.uk/ndrs/

The National Disease Registration Service (NDRS) in NHS England is directed by my Rt Hon. Friend, the Secretary of State for Health and Social Care to collect data and report on the prevalence of cancer, and congenital and rare conditions in England, and this includes genomic data where available. NDRS publishes official national statistics on the birth prevalence of congenital conditions in England, presented by geographical region and stratified by the presence or absence of a known genomic cause. Parental consanguinity is a data item within the NDRS congenital conditions dataset, but reporting remains incomplete across many data providers. As a result, the data is insufficient to support routine reporting on the birth prevalence of congenital conditions in consanguineous families. NDRS is working with hospital trusts to continually improve the quality and completeness of data. Other relevant initiatives include the Born in Bradford study, which provides valuable insights into congenital conditions and associated risk factors, including consanguinity, in a defined population. Further information on the NDRS is available at the following link:

https://digital.nhs.uk/ndrs/

The Medical Research Council (MRC), which is part of UK Research and Innovation (UKRI), committed £55,650,000 since 2020 to research into mitochondrial disease.

Additionally, MRC awarded the MRC Mitochondrial Biology Unit (MBU), which focuses entirely on mitochondrial disease, £39,489,000 over this period.

The Department does not hold this information.

I thank my hon. Friend for raising this issue and congratulate his constituent David Kiddie on the 190-mile walk he completed earlier this year to raise awareness and funds for those with MLD and their families. The Government are committed to listening to those with MLD and their families and acting with compassion and care to support them. The UK National Screening Committee, which advises the Government on all screening matters, is consulting on the outcomes of an evidence review looking at whether to screen for MLD.

What steps he is taking to increase metachromatic leukodystrophy screening provision for infants.

I thank my hon. Friend for raising this matter. Lily’s story really lays bare the heartbreak that rare diseases can bring and the vital role that early diagnosis can play. I am happy to meet my hon. Friend and Lily’s family. May I suggest that we meet when the UK National Screening Committee has completed its review, so that the Government have received advice on this important matter? We can then discuss that advice together.