Genomics in the UK – MHRA on regulatory considerations for sequencing, analysis and diagnostics
Estimated reading time: 8 minutes
Joseph Burt, head of diagnostics and general medical devices at the MHRA, spoke at the recent Westminster Health Forum Policy Conference on genomics in the UK, outlining the MHRA’s introduction of new regulatory processes for genomic testing and analysis, and about his role in horizon scanning for new genomic technologies
As part of the Westminster Health Forum Policy Conference on genomics in the UK, a keynote session from the Medicines and Healthcare Products Regulatory Agency (MHRA) began with an introduction to what the MHRA does in this field.
“At the MHRA, we are looking at genomics to really transform modern clinical medicine in a very revolutionary kind of way,” explained Joseph Burt, the MHRA’s head of diagnostics and general medical devices. “Diagnostics will play a pivotal role in being able to identify very specific rare diseases, and it will also be important in cancer profiling, and in prenatal screening in terms of detecting chromosomal abnormalities during the pregnancy term. For us, genomics is a very essential tool.”
MHRA to introduce a new four-step process
To ensure genomic testing and analysis meets regulatory requirements, the MHRA will soon begin to introduce a four-step process that must be adhered to. Joseph gave an overview of what each step will entail, and the rationale behind the forthcoming introduction.
“We will firstly look at specimen collection, transportation and storage,” he explained. “Fundamentally, we want to make sure that existing clinical pathways are adopted when collecting and submitting the samples. For example, in order to collect a buccal swab, this would entail capturing and containing the sample in a tube, then appropriately storing it, before it is sent off for genetic analysis. For samples which require taking biopsies from within the body for genetic sequencing purposes, in all cases, we must ensure that the person who is providing the sample is unharmed.”
The second step focuses on how samples are sequenced to identify particular mutations or variations, he explained. The MHRA advocates the use of commercial sequencing instruments as these are known to meet the standards that are set in legislation. Research use only (RUO) products are not permitted or advocated to be used for sequencing purposes as they do not go through the same rigour as a commercially-developed product, he advised.
In the third part of the process, the data analysis and interpretation of a genetic test outcome is considered by the MHRA. “You have to be able to make sure that robust datasets are being produced,” Joseph explained. “This involves looking at the quality of the data. But the analysis is equally as important, as we need to make sure that the software that supports the analysis is just as robust.”
The final step is around the translation and interpretation of the results. This must be accurate and be measurable to a specific genomic variant that is associated with a particular condition or disease, he told the conference. The idea is this knowledge could be taken forward as a potential treatment or care pathway so accuracy is essential.
“These are very important steps that the MHRA has introduced to set the standards in defining genomic sequencing tests and the interpretation of results,” he added. “The test standards are being introduced slowly over time and will be published in due course.”
Joseph said the MHRA’s primary objective is to “uphold the highest standards in genomic-enabled diagnostics, to ensure there is reliable diagnosis of rare and inherited diseases, early detection of cancer and as part of prenatal screening”.
“We will be introducing guidance documents to inform those who are performing genomic-based activities in diagnostics, prevention and in treatment, to ensure they are clear for everyone to adopt and use,” he added. “The MHRA has recently publisheddraft guidance for individualised mRNA cancer immunotherapiesand we will be introducing further guidance documents through the course of 2026 and 2027. These will be focused on diagnostics and will include genomic-based testing guidance.”
AI-enabled genomic diagnostics
When asked how the MHRA could adapt its regulatory pathways for AI-enabled genomic diagnostics, Joseph described a programme of work that the MHRA has already undertaken, known asAI Airlockwhere they aim to learn more about aligned AI technologies.
“The next round of AI Airlock participants includes some genomic and pathology-based services and activities,” he explained. “As we continue our learning through the AI Airlock, we’re improving our understanding of some of the ways in which we can apply regulation risk proportionally.”
Joseph was also asked about how regulation can remain proportionate while safeguarding patient safety in the context of fast-moving innovations.
“Fast-moving diagnostic technologies like genomics are really at the forefront of what we’re looking at,” he explained. “I sit within a group within the MHRA that looks at innovative devices and this includes a lot of horizon scanning. In terms of some of the new technologies that are coming through like genomic testing, we want to ensure we are able to promote and enable those technologies in a very safe way, while still meeting those requirements.
“As we evolve our learning, we are able to then apply the risk proportionality of our regulations to set standards accordingly,” he added. “This includes understanding how they work scientifically before we could advocate applying them into clinical practice or as part of standard care.”
Joseph was also asked whether it would be possible to speed up the approval process for validated genomic technologies. The clinical evidence must sit behind these technologies, he answered.
“If, for example, you are claiming that your genetic test can determine a gene mutation such as BRCA1 or BRCA2 (associated with an increased risk of breast cancer in both men and women), you would need to demonstrate you have evidence in a clinical environment that does detect this particular gene mutation or other specific condition that it will apply to,” he advised. “It’s really important to meet those standards by demonstrating evidence. Once you have that scientifically robust evidence that is meaningful for a particular condition or disease, you can actually go through the approval process fairly quickly, and efficiently.”
Direct to consumer testing
The MHRA’s head of diagnostics and general medical devices also responded to a concern about how direct to consumer testing will be regulated. Direct to consumer testing is part and parcel within the existing framework of testing activities across the UK, he advised. Known as self-tests in the regulatory landscape, these still need to meet the requirements and standards as defined in the regulations. Once these have been met, self-tests would be able to receive a kitemark such as a CE-mark or a UKCA mark to demonstrate they meet the standards. Following this, those tests can then be registered with the MHRA.
“Similarly with genomic tests that are direct to consumer, they have to meet very high standards before they can be made available for general population testing,” he advised. “In addition to this, any tests that are spotted in the market that do not conform, should be reported to the MHRA and we will investigate accordingly.”
He also touched on how the UK can ensure international competitiveness in terms of precision medicine, following the submission of a final question as part of his keynote session.
“Precision medicine is really here to stay as we are going to be promoting this more and more,” he responded. “The use of good diagnostic testing to identify your genome is fundamental to enabling some of those technologies to help develop mRNA-based immunotherapies that are coming through for cancer and certain other diseases. For us at the MHRA, it is very important and the guidance we will provide in due course will inform how to do this effectively and efficiently to deliver strong patient care in terms of precision medicine.”
He concluded his session by adding that the MHRA is advocating for more clinical research studies in precision medicine. “There’s a few studies that are ongoing in the UK at the moment, that are internationally-driven as well as being domestically-enabled. More precision medicine clinical studies will help to inform future pathways and enable new technologies such as mRNA immunotherapies to come to the fore in standard clinical practice,” he added.
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