Genomic medicine strategy 2024 to 2029

Our strategy for transforming genomic medicine across Scotland from 2024 to 2029.

14. Clinical Pathways

Clinical pathways

We want to ensure that the development of genomic medicine and infrastructure within Scotland is person-centred by design to support precision medicine and coordinated care. This involves providing support and guidance to HCPs around the best use of genomic testing and information but also ensuring that this information is readily and securely available to those who need it. In conjunction with our building block around patient and citizen engagement, we will work to ensure that clinical teams, patients and families have genomic information that is appropriate and accessible, to allow them to make informed decisions about their health.


Genomic information, encompassing the tests carried out, results and any interpretation, needs to be securely and readily available to those who need it across all health and social care systems. As genetic and genomic medicine impacts on ever more clinical areas, this becomes more complex as information must move across territorial Health Board jurisdictions, clinical specialties and sectors to support care personalisation and coordination. At the same time, we recognise that genomic information is increasingly complex: we need to ensure that systems are in place to allow the reinterrogation and appropriate reuse of data over time, by different groups with systems in place to provide interpretation and context where needed, linking to the wider education of clinical communities, patients and families.

Where we want to be

We want to build a genomic medicine service and infrastructure that supports person-centred care pathways and coordinated clinical services in which patients and their families can access support and treatment in a timely manner, and supports collaboration between professionals and different service areas to make best use of resource across a system under immense pressure.

Where we are now

As genomic medicine develops, it will impact upon an increasingly wide range of people, specialties and sectors across the health and social care system. Although many groups have already developed multi-disciplinary care pathways and collaborative groups to deliver services and integrate genomic insights into patient care, some variation in expertise and pathways continues to exist across Scotland.

Coordinated care

We need to ensure that genomic information and results are available to those who need them across health and care systems to help coordinate care efficiently. This is particularly acute for those who access specialist secondary care services which may be available only in a minority of Health Boards in Scotland. This can mean patients travelling outwith their home Health Board area to access services, care and support. We will work with Scotland’s Rare Disease Implementation Board in support of the Rare Disease Action Plan, as well as the Scottish Cancer Strategic Board in support of the Cancer Strategy, around their plans for improving the coordination of care for patients across Scotland.12, 14

Clinical pathways

Wherever possible, we will work with existing groups to understand where and how they need to access genomic medicine reports and information, as well as exploring the development of new roles to support HCPs. The need for reports, and underlying data, to be accessed nation-wide and to be reanalysed or reused to support patient care will also form a core component of our initial work around information governance and data management.

National Genomic Multidisciplinary Teams (MDT)

There are strong examples of multidisciplinary team (MDT) working and molecular tumour boards (MTB) in Scotland for specific indications and, where these exist, they have played a crucial role in supporting HCPs to make sense of genomic information and helping shape patient care and shared decision-making. We also recognise that these play a vital role in educating and upskilling clinical teams about genomics in their field and its practical implications. We will work with existing MDTs and MTBs to identify areas of best practice and assess the potential for different models to be scaled up, understanding the staff time and resource needed to support these. We will also work with clinicians across different clinical specialties to help support the co-ordination of services for complex testing pathways to ensure that information governance and digital solutions, developed alongside the national Laboratory Information Management System (LIMS), can support comprehensive multidisciplinary reporting for patient diagnosis and care.

Support for patients and families

Within our workforce building block, we identified a need for clinical geneticists, genetic counsellors, oncologists and haematologists to be able to support patients and their families to understand their genomic information. We also identified a need for wider workforce upskilling and the use of novel resources to both educate and communicate with clinical groups, patients and families about what genomic information and reports mean for their condition, and their choices in terms of care and treatment. Working with the Rare Disease Implementation Board we will support the development of the clinical genetics forum, so that it can progress the clinical pathway elements of this policy and improve harmonisation of practice across Scotland. We will also work with the different cancer networks to identify where clinical pathways require clinical genetics and genetic counsellors to be involved and in what capacity, and where other professional groups and roles should be identified, signposted and developed.

Supporting precision medicine within cancer

As described above in relation to expanded testing we know that an important area of activity will be enhancing cancer precision medicine and access to SMC approved medicines. Delivery will rely on interaction between pharmacists, nurses, clinicians, laboratory services, primary care and digital teams. To contribute to this we will work closely, through the SSNGM, with partners within the SSND, Cancer Research UK Scotland Centre, the Experimental Cancer Medicine Centres, the Scottish Cancer Network, Scottish Pathology Network (SPAN) and the regional cancer networks to explore how best to embed testing within clinical pathways. Critical within this area is also engagement with pharmacy colleagues around the use and optimisation of different medicines and the interpretation of genomic information within these settings.

Prevention and early detection within and outwith screening programmes

An important area of expansion within genomic medicine is its application to the early detection of genetic conditions from pre-conception (before pregnancy) and antenatal (during pregnancy), through early childhood and beyond. Pre-implantation genetic diagnosis (PGD) is a technique used to remove a small number of cells from a fertilised embryo following in-vitro fertilisation (IVF) to test for a known genetic condition in the family. This methodology is a form of pre-conception genetic testing used before pregnancy to prevent families passing on genetic conditions to their children. Non-invasive prenatal testing (NIPT) and non-invasive prenatal diagnosis (NIPD) use a blood sample from a pregnant mother to test for a suspected (NIPT) or a known (NIPD) genetic condition in her baby during pregnancy. NIPT for the most common chromosomal abnormalities is currently offered as a second-line screening test to those women who have received a higher-chance result that their baby may have Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. NIPT is delivered across Scotland through the National Pregnancy Screening Programme. NIPD is used as a diagnostic test rather than a screening test to identify known genetic conditions which are inherited within a family and can be used for both common and rare inherited conditions.

In Scotland we want to expand our diagnostic testing that is offered both pre-conception (PGD) and antenatally (NIPD) to more couples who would benefit. There is also a need to offer a rapid comprehensive genomic test, such as WES or WGS, to try to identify genetic abnormalities in babies who present with a potential serious genetic condition either during pregnancy (antenatal), shortly after birth (postnatal) or for critically ill children. We recognise the importance of making testing available as early and as rapidly as possible to help optimise the management of these challenging cases and support appropriate treatment where possible.

In adulthood, the early detection of inherited risk of disease particularly for those families at risk of developing inherited cancers can also drive preventative efforts. We also want to evaluate the expanded use of technologies such as ctDNA as a potential test to help with the detection of some cancers.

In terms of our wider preventative efforts, national screening programmes in Scotland are overseen by the Scottish Screening Committee, which is aligned to the UK National Screening Committee (NSC). While this is out of scope for the current strategy, we will work with stakeholders as the NSC pivots to include targeted population screening and the inclusion of genomic information. We will also seek to learn from the findings of the Genomics England Ltd research study on expanded childhood genomic screening.

Infectious diseases and point-of-care (POC) testing

During the COVID-19 pandemic, genomic sequencing was used within the diagnosis and monitoring of cases, tracking outbreaks and new variants and supporting the development of therapies and vaccines. The PHS Pathogen Genomic Strategy has outlined the plan for the further expansion of genomic sequencing to identified or suspected pathogens beyond SARS-COV-2 and an important area of expansion is point-of-care testing, particularly for infections and pathogens which are resistant to anti-microbial drugs. We are committed to working closely with PHS colleagues to ensure that systems and data collection developed as part of the genomic medicine service are compatible and interoperable with POC testing for potential pharmacogenomic targets identified as a growing area of demand.

14.1. Case study: Care coordination for rare conditions

People with Friedreich’s ataxia are at increased risk of cardiomyopathy, cardiac arrhythmias and diabetes. They are usually diagnosed in childhood following a genomic test and will later transition to adult health services on leaving school. The NHS Tayside Genetic Care Coordinator supports those affected by supporting them through the transition process and ensuring that they are linked into the correct healthcare team. This also ensures that they receive screening investigations such as annual blood tests and ECGs (heart rhythm recordings), as well as 2 yearly echocardiograms (heart scans) in a timely manner and that these investigations are reviewed by appropriate specialists and the results fed back to them along with a follow-up plan or care plan. The care coordinator also acts as a point of contact so that if issues or new concerns arise in between planned events, the person has access to ongoing support which can include referral onto other specialist services depending on need, such as speech and language therapy or physiotherapy. This is just one example that shows the importance of ensuring that genomic information is available across the multidisciplinary teams that need it to ensure that appropriate support is in place to help people, both before and after genomic testing and to understand genomic information. Putting in place this support and coordinated care will require collaborative working across multiple NHS services, disciplines and policy teams.

What will this mean for people of Scotland?

Co-ordinating care helps everyone. Healthcare professionals working in multi-disciplinary teams will be able to quickly share expertise and take the whole picture of a person’s condition into account. People attending appointments may have less of a travel burden, and can make more out of appointments, when care is well-co-ordinated. Having clear pathways in place will also increase people’s knowledge about their data or information and how to access it.



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