Genomics – 2025 review results

View the outcomes of the 2025 curriculum content review for Genomics.

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Programme Scientist Training Programme
Specialty Genomics
Year of review 2025 – 2026
Curriculum Click link to access Genomics curriculum
Specialty Lead Editor Gavin Ryan

Current priority areas

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Stakeholder feedback

Feedback collecting through the Curriculum Library survey collected between January 2024 and November 2025. All stakeholder feedback is presented verbatim.

Programme

  • We have a huge amount of STP’s requiring the Genomics unit, this is Embryologists, Biochemists, Immunologists etc. The Genomics unit they cover is the same in the 1st year as the Genomic STP’s. This unit IS NOT RELEVANT to their practice and as a service we are finding it extremely difficult to cover the numbers. We also object to training STP’s with private companies that we receive no financial reimbursement from. Someone needs to take them off The Genomics unit and replace with something far more relevant.
  • I don’t think the DTA/ETA things are always appropriate. E.g. Module: S-G-S2 Prenatal Genomics TA10 is an ETA but STPs don’t really get chance to participate in a lot of service work for prenatal cases. Additionally, in the GLHs we don’t separate our tests into paediatric and adult referrals. So it’s a bit unhelpful for there to be two separate training activities for things like Cystic Fibrosis – one for paediatric referrals and one for adult referrals. In my opinion it would be better if the Training Activities were just split into each disorder. E.g. “TA – Select the correct test, analyse and report cases referred for Cystic Fibrosis.” Or “TA – Select the correct test, analyse and report cases referred for SMA”. This would be a better way for the TAs to be split up, rather than combining a couple of disorders into one TA when they might be disorders that are covered by two separate teams, therefore have different training at different points of the programme. E.g. Module: S-G-S3 TA1 includes FH, CMT, triplet repeats, karyotyping and other molecular testing. These things will all be done at different times and training will be on different teams by different scientists. So it makes it very difficult for this to be signed off. Often, STPs will have to do part of the TA then leave the rest of it until a year later when the other part is covered. I think this can be confusing for STPs and it would be better for their revision and consolidation if the TAs were just split into one disorder per TA.
  • The curriculum is largely out of date. There is a large emphasis on cytogenetic techniques (QFPCR, array etc) and WGS is rarely mentioned (except in a general learning outcome). Large amounts of the Cancer is covered nationally which means that there are massive gaps in out trainees knowledge as the national training is limited and virtual and the marking comes to local TO who have 0 knowledge of the speciality services. There is too large a weight on Cancer. The Professional Practice unit has elements that are not totally valuable (Public health initiative). The involvement of SC-2 in the phase 2 progression is problematic as most of our trainees prefer to do the literature review at the end. The involvement of the TO has got more and more complex and few have the time. I feel very strongly that there should be more local flexibility so that TO’s can provide the local experience that meets the trainee needs. National training is not working as the GTAC resources are all virtual and the marking falls to local teams (they are nor trained in these areas).
  • Due to the expansion in content and the ever growing split in the profession between RD and Acquired cancer, the genomics trainees should no longer be required to do the depth of haemato-oncology rotation that they are currently doing. Due to the high numbers of trainees coming through the Cancer Genomics Programme it is very unlikely that a Genomics trainee would ever be employed in a Cancer Genomics post.
  • There is a significant amount of acquired cancer content in the Genomics curriculum. This content is delivered by cancer genomics TOs and specialists, in addition to supporting cancer genomics trainees, it is a significant burden on cancer genomics trainers. This level of aquired cancer training is unsustainable and no longer necessary for genomics trainees, as this is now its own specialty. We can therefore be confident that removing or significantly reducing it from the genomics curriculum would not create a skills or workforce gap. The time spent on cancer genomics competence can instead be focused on enhancing and consolidating knowledge and skills in more pertinent modules such as WGS, Pharmacogenetics, and population genetics.
  • Please can you consider reviewing the format of the TAs in the adult and pediatric modules. The way they are written means there are both disorders that span more than one module/TA and also TAs that include different disorders and therefore need assessing by different people. It means that it’s hard to keep track of what it actually signed off/completed by the trainee- I’m asking trainees to send multiple submissions under one TA, but that TA is marked as complete after one accepted submission on Onefile. It means the % progress shown on Onefile is over-inflated. The way that the cancer module TAs is broken down clearly by disease/area is much clearer and one that it would be nice to see across other modules.
  • I was chatting to a recently registered genomics scientist who mentioned that now she was registered she was being trained to review test requests. It seems odd that after 3 years of training trainees haven’t been given the experience to be competent to do the core elements of their job.  I career changed as I was previously a solicitor. When I was a trainee solicitor the expectation was that after 1 year at law school doing the masters equivalent and 2 years workplace training one would be a competent, albeit inexperienced, solicitor.  A newly qualified solicitor would still be supervised, though not as closely as a trainee would be. They would be expected to know when to ask for help or advice.   It seems like the genomics STP is so focussed on academic content that on completion the trainees have lots of technical knowledge but not enough skills to do the job on qualification.  Trainees should have more opportunities to shadow work and carry out enough work under supervision that they are competent on qualification.   It would be helpful for the people who design the STP programme to spend time with trainees in other professions, including, but not limited to, healthcare professions to understand the capacity graduates have to do genuine work under supervision.  The final year of all STP curricula should include substantial amounts of supervised service delivery work.
  • Cancer genomics now needs to be removed from the Genomics curriculum. Cancer Genomics STP do not have to perform a Genomics rotation or module. It is now too challenging to deliver training in Haem Malignancy to both Cancer Genomics STPs and Genomics STPs. If Cancer Genomics has to stay in the Genomics Curriculum, then it would be preferable to change the diseases from AML and ALL to CML and CLL. AML and ALL have the most complex testing pathways and it is extremely challenging to deliver anything at a meaningful level. The fact that all the TAs/assessments are DTA rather than ETA also means that no meaningful level of competence.

S-G-R1 Introduction to Genetics, Genomics and Molecular Science

Module aim

  • This module contains information that is relevant to the trainees but there is a lot of duplication with cancer genomics.  If a lab does both then the samples often go through the same pathway for example.  It would be better to have a single 6 month introductory module that would cover the 4 topics leaving more time for trainees to focus on their specialism.

Training activities

  • 8 – duplication with cancer genomics

Direct Observation of Practical Skills (DOPS)

  • “Review a referral for appropriateness.” “Generate a basic report”. “Perform analysis of the results of a molecular genetic test”. “Perform analysis for a sample referred for chromosome assessment.”  – The content of the module is based on observing others carrying out activities and reflecting on them rather than learning how to perform them so having an assessment in which trainees are expected to demonstrate competence in performing an activity that  they have not been trained to perform, and which will not form part of their role is not a demonstration that they have completed the module.

Observed Communication Events (OCE)

  • “Gather patient history relevant to the specialty from a patient, patient representative, or a member of the multidisciplinary team.” “Present a patient history relevant to the specialty to another member of the multidisciplinary team.” – This is not relevant to the work of genetic scientists, genetic scientists do not gather patient histories, they get information about patients from forms submitted with samples.  It would not be ethical for a trainee who has not been trained in taking histories to gather a history from a patient

Another element of a module

  • This is meant to last 5 weeks (4 minimum). We do not need any where near this time to cover this. 2 weeks would suffice and allow the trainees to concentrate on core areas of their speciality. These for the Genomic trainees are wasted as we cover them in far more detail later on. We are unable to offer the required training to the sheer number of external trainees (Endocrinologists, histopath etc) so I feel that either this needs to be run and MARKED nationally as local Genomic centres really struggle with the numbers involved. The marking is a major problem for the numbers we have to support.

S-G-S1 Paediatric Genomics

Training activities

  • 6 – The majority of paediatric panels (R27, R29) are performed using whole genome sequencing now. Therefore I think it would make sense for this competency to change from NGS to WGS.
  • 9 – Most NHS laboratories are moving away from doing microarray testing for pediatric patients – these referrals are now having WGS as a first line test. Under the current wording this will make this TA almost impossible for trainees to complete in an NHS lab. I would suggest changing the wording to “CNVs identified by WGS or array” instead of “array abnormalities” to reflect this change in practice.

S-G-S2 Prenatal Genomics

Training activities

  • 4 – Karyotyping is now rarely performed for prenatals with abnormal scan findings. Suggest this is removed from the TA.

S-G-S3 Adult Genomics

Training activities

  • 3 – “Cystic fibrosis deletion” is an error. Please correct to just “Cystic fibrosis”

S-G-S4 Cancer

Module aim

  • For haemato-oncology, this module focuses on ALL and AML. These are two very complex diseases and the disease pathways are also complex with many different techniques used for testing. These do not seem like the most appropriate pathways to use to train colleagues focusing on mainly germline disorders about somatic testing strategies, especially when only a very short timeframe is available. They might gain more value learning something simpler and then potentially having the chance to practice what they have learnt eg CML/MPN pathways.
  • Cancer genomics now needs to be removed from the Genomics curriculum. Cancer Genomics STP do not have to perform a Genomics rotation or module. It is now too challenging to deliver training in Haem Malignancy to both Cancer Genomics STPs and Genomics STPs. If Cancer Genomics has to stay in the Genomics Curriculum, then it would be preferable to change the diseases from AML and ALL to CML and CLL. AML and ALL have the most complex testing pathways and it is extremely challenging to deliver anything at a meaningful level. The fact that all the TAs/assessments are DTA rather than ETA also means that no meaningful level of competence can be achieved.

Another element of a module

  • Was required to create a training module for ctDNA in Lung cancer despite knowing that the current methodology was about to be changed. This training module now no longer reflects current practice. And as this testing is no longer being delivered within the NEYGLH there is no-one within the GLH that can create a suitable new training module, nor deliver it.

Changes made

Module level changes

Change ID M1
Module code S-G-S1
Module content Training Activity
Original TA2 is currently ETA
Change Change to DTA
Change category Minor
Implementation cohort

 

Change ID M2
Module code S-G-S1
Module content Training Activity
Original TA9 – ‘Interpret and report copy number variants, to include:

  • Array abnormalities
  • Karyotype abnormalities’
Change Change to ‘Interpret and report Copy Number Variants for patients with clinical features highly suggestive of a chromosomal cause’
Change category Minor
Implementation cohort

 

Change ID M3
Module code S-G-S1
Module content Training Activity
Original TA5 – ‘Analyse and interpret results for targeted genomic dosage analysis associated with paediatric disorders, to include:

  • SMA
  • DMD/BMD’
Change Change to ‘Analyse and interpret results for targeted genomic dosage analysis associated with paediatric disorders, as examples:

  • SMA
  • DMD/BMD’
Change category Minor
Implementation cohort

 

Change ID M4
Module code S-G-S1
Module content Training Activity
Original TA4 – ‘Analyse and interpret results for a range of triplet repeat assays for paediatric patients, to include:

  • Myotonic dystrophy
  • Fragile X’
Change Change to ‘Analyse and interpret results for a range of triplet repeat assays for paediatric patients, as examples:

  • Myotonic dystrophy
  • Fragile X’
Change category Minor
Implementation cohort

 

Change ID M5
Module code S-G-S2
Module content Training Activity
Original TAs 1, 3, 6 and 10 are currently ETAs.
Change Change to DTAs
Change category Minor
Implementation cohort

 

Change ID M6
Module code S-G-S2
Module content Training Activity
Original TA4 – ‘Analyse, interpret and report the results of cases referred for abnormal scan findings, to include:

  • QFPCR
  • Microarray analysis
  • Karyotyping’
Change Change to ‘Analyse, interpret and report the results of cases referred for abnormal scan findings, as examples:

  • QFPCR
  • Microarray analysis
  • Karyotyping
Change category Minor
Implementation cohort

 

Change ID M7
Module code S-G-S3
Module content Training Activity
Original TA3 – ‘Analyse and interpret the results from targeted testing for patients referred for infertility, to include:

  • Cystic fibrosis deletion
  • FMR1 analysis in relation to premature ovarian failure (POF)’
Change Change to ‘Analyse and interpret the results from targeted testing for patients referred for infertility, to include:

  • Cystic fibrosis
  • FMR1 analysis in relation to premature ovarian failure (POF)’
Change category Minor
Implementation cohort

Programme level changes

  • no changes made
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Periodic review

This specialty curriculum requires significant change beyond the scope of an annual review.

Responseyes

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Rationale

Please provide an overview of the rationale for why the proposed changes are needed or why changes were not needed, with reference to stakeholder feedback.

Response

Change Rationale
M1 Not all laboratories provide CF testing, therefore DTA is more appropriate given that some trainees may only be able to be provided with a short time of training on CF.
M2 This relates to changes to the National Genomics Test Directory, where microarray now available mainly only for those individuals with a recognised chromosomal cause of disease.
M3 and M4 Changing to ‘as examples’ ensures that laboratories that provide testing for different disorders using these methodologies can use those disorders for this training.
M5 Prenatal testing not provided by all laboratories so DTA is most appropriate as many trainees will not be able to have significant time within a laboratory doing prenatal testing.
M6 Stakeholder feedback stated karyotyping no longer peformed for these patients.
M7 Wording stating ‘deletion’ was incorrect.

I confirm I have reviewed the Reflective Practice Guidance for ETAs and DTAs and have made any changes necessary.

Specialty Lead Editor signature: Gavin Ryan
Date: 31 December 2025

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Change control - completed by the school

Programme structure

Change ID Programme structure maintained Comments Response
M1 Yes 2026
M2 Yes 2026
M3 Yes 2026
M4 Yes 2026
M5 Yes 2026
M6 Yes 2026
M7 Yes 2026

Completed by: Chris Fisher
Date: 14 January 2026

Health and Care Professions Council (HCPC) mapping

  • No changes to learning outcomes. HCPC SOP mapping maintained.

Completed by: Chris Fisher
Date: 14 January 2026

Last updated on 29th January 2026