Access to treatment-guiding biomarkers in the UK: surveys of cancer patients and healthcare professionals

ABSTRACT

Aims

To understand current barriers to treatment-guiding biomarker testing in cancer patients in the UK.

Methods

A literature search, interviews with healthcare professionals, and a focus group of cancer patients were used to identify current challenges and barriers to treatment guiding biomarker testing. These were followed by online surveys of healthcare professionals and patients designed to further explore and quantify challenges to biomarker testing within the UK.

Results

Challenges were identified across the entire biomarker testing pathway, the most common being insufficient workforce, long turnaround times, and lack of specific training. These challenges had a negative impact on patient access to targeted cancer therapies.

Conclusions

Challenges to accessing treatment-guiding biomarker testing of cancer patients within the UK are impacting clinical decision-making. There is a requirement to improve awareness and training of healthcare professionals, particularly nurses and advanced clinical practitioners, with opportunities to improve outdated and fragmented ordering and reporting processes. Steps should also be taken to improve the availability of plain-language information materials for patients, to promote understanding and self-advocacy.

Plain Language Summary

Why did we perform this research?

To identify the best treatment options for cancer patients, it is important to test the patient’s tumor for the presence of specific genetic variants or proteins (also known as biomarkers). Previous publications have suggested that many UK patients do not receive such tests, even when NHS guidelines state they should. This research aimed to understand what proportion of patients are not getting tested, and why biomarker testing is not occurring in all patients.

What did we do?

Patients and healthcare professionals, including oncologists, nurses, and lab scientists, were interviewed and/or surveyed to identify any barriers in the NHS to treatment-guiding biomarker testing.

What were the results?

In total, 47.5% of the cancer patients stated they had not received treatment guiding-biomarker tests or were unsure if they had received such tests. NHS professionals told us that there were many challenges to implementing biomarker testing, the most common being insufficient staffing levels and lack of tailored training about genetic and biomarker testing, particularly among nurses. Also, test results took too long, with more than half of patients waiting longer than the recommended 2 weeks for a test result.

What are the implications?

Our findings indicate that broad reforms and additional resources are needed within the NHS to ensure cancer patients have access to the right treatments.

1. Introduction

Personalized medicine is driving a revolution in cancer care, improving outcomes, and targeting treatments to those patients most likely to benefit [1]. Fully realizing the benefits of personalized medicine requires integration of treatment-guiding biomarker testing into clinical pathways. Leading cancer charities have advocated that every cancer patient eligible for biomarker-linked therapy should undergo testing for all clinically relevant biomarkers that are indicated for precision medicine, including the use of genomic panels and/or whole-genome sequencing to increase the chances of detecting all important cancer mutations [2].

Within the UK, the importance of biomarker testing has been recognized by the UK government, and in policy statements from NHS England, Wales, and Scotland, which outline strategies to improve and standardize genomic testing in cancer patients [3–6]. Within England, a network of seven genomic laboratory hubs (GLHs) has been established to drive testing excellence, and comparable centralized expertise is also available in Scotland, Wales, and Northern Ireland. For non-genomic biomarker testing, such as immunohistochemistry (IHC) assays, a unified strategy has not yet been developed. Although the National Genomic Test Directory lists all approved genomic tests, it does not include IHC tests, about which there is a lack of clarity concerning reimbursement. Delays to updating testing directories can delay patient access to newly approved medicines. IHC testing currently takes place in regional laboratories, many of which also provide genomic testing [7].

Understanding access to biomarker testing in the UK is vital to set benchmarks and drive improvements. Long turnaround time for test results have been reported, which have contributed to decisions not to prescribe targeted therapies [8]. A 2023 survey of regional pathology centers in England reported median turnaround time of 2–3 days for most IHC assays, 6–15 days for real-time polymerase chain reaction (PCR) tests (which include single target genomic tests), and 17.5–24.5 days for next-generation sequencing (NGS) tests. The study also highlighted the need for GLH referrals to be better integrated into pathology laboratory workflows [7]. Limited data on the use of GLHs and GLH performance is available due to the lack of centralized data gathering. The GLH roll-out remains in its early stages; a survey of UK secondary healthcare professionals performed in 2021 found only 23% of the NSCLC testing was performed at GLHs.

In the UK, there is up to a 1 year lag between precision medicine approvals and the relevant test being made available, and a survey of laboratory managers indicated only 66% of the patients potentially eligible were tested for approved cancer biomarkers [9]. There is limited understanding of cancer patient experiences of biomarker testing within the UK, although focus groups and surveys in the United States have highlighted inconsistencies in patient experience of the testing process and a need for improved communication on the importance of biomarker testing for cancer care [10,11]. Recent reports have also highlighted potential inequalities in cancer care, including differences in access to genomic and precision medicine based on ethnic and/or socio-economic status [12–14].

In this study, a mixed method approach including literature reviews, interviews, focus group, and surveys was undertaken to identify current barriers to treatment-guiding cancer biomarker testing in the UK across a range of cancer types, with an aim to understand the perspectives of patients as well as healthcare professionals (HCPs).

2. Methods

A representative list of cancers was selected to include rare and common cancers, those with mature and less mature precision medicine biomarkers, and encompassing a range of demographic characteristics such as sex, age, and socio-economic status. Cancers prioritized for investigation were lung, melanoma, breast, colorectal, sarcoma, and glioblastoma.

A three-stage approach was taken to the study (Supplemental Figure S1). First, a comprehensive literature review was performed to understand the patient journey and biomarker testing process for each cancer type as well as historical barriers to testing access. This was followed by semi-structured interviews with 20 healthcare professionals from a variety of relevant roles including surgeons, oncologists, nurse specialists, clinical scientists and pathologists, including representation from England, Scotland, Wales, and Northern Ireland. A three-hour focus group with 24 cancer patients captured patient experiences of treatment-guided biomarker testing.

The insights from the literature review, interviews, and focus groups were incorporated into the design of two online surveys (one of patients, the second of healthcare professionals) to further assess and quantify testing barriers in the broader UK population. Surveys were pilot-tested by a small group of HCPs prior to deployment. Participants were engaged across the prescribed cancer types including leveraging Macmillan Cancer Support networks through an omnichannel outreach approach including social media, newsletters, and posters in clinics, although respondents with cancers not included in the prioritized list were also allowed to participate and included in the analysis. The patient survey was active from 28 May to 2 September 2024. The HCP survey was active between 31 July and 16 October 2024. For the patient survey, respondents were required to have cancer currently, or to have had cancer within the last 10 years.

2.1. Statistical analysis

Statistical analyses were primarily descriptive. Many two-way comparisons were performed using tests appropriate to the variables compared. Often, they were non-parametric Kruskal–Wallis or Wilcoxon tests, but if both variables were ordinal, then Spearman correlation was used. To avoid excess calling of “statistical significance,” adjustments for multiple testing were performed using the false discovery rate (FDR) method [15]. All analyses were performed in R [16]

3. Results

3.1. Literature review

As a first step to understanding the current biomarker testing landscape in the UK, a review of relevant literature and NHS and government guidance documents relating to cancer treatment was performed. Best practice guidance within the UK stipulates treatment-guiding biomarker testing is embedded into the workflow of all cancer patients. For example, in patients with lung cancer, relevant treatment guiding biomarker testing results should be available within 10 days of a confirmed cancer diagnosis [17–19]. In breast cancer, NHS England guidelines stipulate histopathology results, including immunohistochemistry, should be available within 7 calendar days [20]. Standard testing turnaround times for centralized genomic testing in NHS England are 21 days for NGS panel testing [21]. A generalized best-practice workflow is illustrated in Figure 1, which outlines how testing should be seamlessly integrated in the patient diagnosis and treatment pathway.

Figure 1.

Biomarker testing in the UK NHS flow chart.

Flow chart represents an idealized biomarker testing process, based on NHS guidelines. Dotted lines represent potential alternative pathways, depending on cancer type or stage. Circles represent barriers to optimal testing flow. MDT: Multi-disciplinary team, ePHR: electronic personal health record.

3.2. Healthcare professional interviews

Structured interviews were performed with 20 UK-based HCPs (including 7 oncologists, 4 clinical nurse specialists, 3 pathologists, 2 surgeons, 3 clinical scientists and 1 program director). Of these, 16 were based in England, one each in Scotland and Northern Ireland, and 2 in Wales. The HCPs identified significant barriers to biomarker testing best practice which fell into broad categories of lack of awareness and/or training, workforce limitations, outdated infrastructure, process inefficiencies, and reimbursement challenges (Figure 1). A list of barriers identified in our interviews with examples is provided in Table 1. Limited workforce was acknowledged as a key barrier in all regions. Respondents from devolved nations indicated that process inefficiencies may be less of a barrier with more effective communication possible between hospitals and the single biomarker testing referral laboratory compared to England’s more complex testing landscape. As a result of these barriers, HCPs reported a turnaround time for test results as often longer than the target of 2–3 weeks.

Table 1.

Challenges to treatment-guiding biomarker testing identified by HCPs.

Challenges identified by HCPs during structured interviews
Challenge	Example(s)
Insufficient/unequal HCP education and awareness	No formal training provided for treatment-guiding biomarkers Lack of notification when new treatments are approved with companion diagnostics Voluntary courses are available but no work time is set aside, meaning HCPs must be self-motivated and undertake training in their spare time Limited awareness of novel (unapproved) biomarkers that may indicate patients’ eligibility for clinical trials Disease area outside specialism of HCP, who may be unaware of what test(s) to order
Assumption that patient will not be a suitable candidate for biomarker-directed treatment	HCP decides against biomarker testing due to low frequency of biomarker positivity and/or patient profile (e.g. patient is a smoker, or older, or has advanced disease) even though treatments are available
Inefficient process for ordering tests	National genomic test directory lists NICE-approved genomic biomarker tests in England, but information can still be hard to find Non-genomic tests such as PD-L1 IHC tests are not listed in the directory and therefore may be overlooked Different directories/test lists for England and each of the devolved nations Ordering process is not standardized. Paper forms still in use in some cases
Inconsistencies in capabilities and use of GLHs	Not all GLHs offer newly approved tests at the same speed Some HCPs prefer to test in-house, resulting in different processes in different regions, or even within regions
Inefficiency and inconsistencies in result reporting, including processes that increase the risk of data breaches	Requirement for manual data entry into ePHR for some test results increases administrative burden and risk of human error Report formats differ by region/nation/test. Some are difficult to interpret Some results emailed to individuals (who may not be the most appropriate person) rather than uploaded directly to the ePHR Examples of results being “lost”
Reflex testing not offered as standard	No reflex testing for all cancers – testing at discretion of HCP Discrepancies in how quickly novel biomarkers are added to reflex panels
Inequality in access to novel biomarker tests not approved by NICE/SMC etc	Access to such tests (e.g. for supporting entry into clinical trials) can depend on personal relationship between oncologist and laboratory Some trusts fund such testing to free up capacity in SACTs, others do not support such testing
Out of date equipment/software	Computer systems not joined up, requiring bespoke internal tracking systems for samples
Lack of awareness means some patients are not empowered to contribute to decisions regarding their care	Insufficient time to explain reasons for biomarker testing Challenge of keeping patient informed vs raising hopes that may not be met Patients may hear of results by post without understanding the reasons for testing Communication challenges due to complex biomarker terminology and/or language barriers where English is not patient’s first language Lack of plain language educational resources Patients self-educating via internet resources that may be inaccurate
Turnaround time for biomarker test results are too long. Aim is within 10 days of biopsy, but 2–3 weeks is standard	Patient may be started on chemotherapy without waiting for test results PI3KCA testing cited as an example where turnaround time is too long Sarcoma tests take longer than for other cancers – in extreme cases, results come in too late to influence treatment For patients with advanced melanoma, turnaround time for BRAF-testing can be the difference between survival and death GLH testing takes longer than local testing as sample sent via post, as a consequence some hospitals prefer to test in-house
Uncertainty over test reimbursement	Uncertainty over funding of local testing (e.g. for expedited results) vs testing performed at GLHs Lack of funding for tests that are not in the Directory
Workforce gaps	Lack of capacity in hospitals and laboratories In some regions, pathology labs stated a 30% increase in staff required to meet demand Recruitment of clinical scientists and administrative support particularly challenging

HCP: Healthcare professional, GLH: genomics laboratory hub, ePHR: electronic personal health record, NICE: National Institute for Health and Care Excellence, AWMSG: All Wales Medicines Strategy Group. SACT: systemic anti-cancer therapy.

3.3. Patient focus group

In a patient focus group, cancer patients stated that a lack of support, insufficient time with healthcare professionals and lack of plain language educational materials contributed to an inability to make informed decisions relating to treatment-guiding biomarker testing (Table 2).

Table 2.

Challenges to treatment-guiding biomarker access identified by patients.

Challenges identified by patient focus group
Challenge	Example(s)
Lack of patient understanding of importance of biomarker testing. Inability to self-advocate	Patients were unaware of best practices for precision medicine and biomarker testing Patients expressed a desire for simpler, plain language explanations of why biomarker testing is important Patients were not aware of expected timelines for test results
Lack of support	Patient support groups are highly valued by patients, but rarely recommended by HCPs Insufficient face time with HCPs: patients expressed a desire for dedicated HCPs who can accompany them through their journey to build trust and rapport
Long waiting times	Concern over waiting times of 2 months between diagnosis and treatment – patients are eager to start treatment Instances of delays due to logistical issues (insufficient resourcing at hospital, hospital refurbishment)

HCP: Healthcare professional.

3.4. HCP survey

To further investigate the barriers identified in focus groups and interviews, an online survey of HCPs was conducted. In total, 101 responses were obtained, across a range of job roles. 53/101 (52.5%) were nurses or clinical nurse specialists, 20/101 (19.8%) were oncologists, 8/101 (7.9%) were advanced clinical practitioners (ACPs) and 7/101 (6.9%) were clinical scientists. Surgeons, pathologists, and histologists were also represented. Respondents were from a broad range of cancer alliances in England, and health boards in Scotland, Northern Ireland, and Wales were also represented. The most common tumor specialties were lung (33.7%), colorectal (21.8%), breast (19.8%), and melanoma (12.9%), with 27.7% of respondents working in multiple cancer types. 59/101 (58.4%) of the respondents worked in specialist cancer centers (Supplemental Table S1).

The most common barriers to biomarker testing cited by HCPs included long turnaround times for results, workforce capacity, and lack of specific training (cited by 68.3%, 52.5%, and 34.7% of HCPs respectively), although other barriers were also noted (Figure 2(a)). Overall, only 28.7% of HCPs included funding as one of their top three challenges, although funding was among the top three challenges faced by 57% (4/7) of clinician scientists and 67% (2/3) pathologists. Only 51/101 (50.5%) of the overall cohort had received training on the topic of treatment guiding biomarkers, with 39.5% of nurses/ACPs having received training, compared with 75.0% of oncologists (Figure 2(b)). Lack of training was perceived as a challenge for a higher proportion of nurses/ACPs than for oncologists (41% versus 15%, respectively), with 44.3% of nurses/ACPs stating there were no appropriate training courses (Figure 2(c)). There was no obvious difference in proportion of HCPs receiving training between cancer specialties (Figure 2(d)). When asked about the usefulness of different training modalities, conferences, and face-to-face training were deemed helpful by 84.2% and 83.2% of HCPs, respectively. Online training was helpful for 74.3% and self-directed e-learning helpful for 68.3% of the respondents.

Figure 2.

Challenges to treatment guiding biomarker testing identified by HCPs.

HCP: healthcare professional, ACP: advanced clinical practitioner, CME: continuous medical education, CPD: continuous professional development. For panel a, respondents were asked to select the top three most important challenges from their perspective.

In total, 23.8% of HCPs cited complex, fragmented ordering systems as one of their top three challenges to testing. Only 13% of the HCPs completely understood roles and responsibilities for treatment guiding biomarkers (Supplemental Figure S2(a)). Most HCPs had multiple responsibilities throughout the pathway, with higher variability for responsibilities amongst nurses/ACPs than for oncologists (Supplemental Figure S2(b)). In total, 75.5% of HCPs sent samples to GLHs for testing, although most HCPs sent samples to multiple sites, with > 25% of HCPs using in-house laboratories, other hospitals, and/or pathology networks for sample testing (Supplemental Figure S2(c)).

In total, 62% of HCPs understood what biomarker tests they had access to, although there was significant variation between different tumor specialties (Supplemental Figure S3), with less than 50% of HCPs working in colorectal cancer and melanoma having full clarity on available tests, compared with 75.9% in lung cancer and 92.3% in breast cancer. Only 34.7% of HCPs found it easy or somewhat easy to find biomarker updates. A variety of sources were used for obtaining biomarker updates, the most common being national guidelines such as NICE or AWMSG, used by 80% of oncologists and 72.6% of nurses/ACPs (Supplemental Figure S3). Differences were observed in use of sources, with 65% of oncologists using international guidelines (e.g. ESMO) compared with only 27.4% of nurses/ACPs. The genomic test directory was used by 60% of oncologists versus 21% of nurses/ACPs (Supplemental Figure S3).

Turnaround time for biomarker results experienced by HCPs is shown in Figure 3(a). Median turnaround time was 2–3 weeks. However, only 55.8% of HCPs received biomarker results within 3 weeks, with 16.8% of respondents citing a turnaround time of greater than 4 weeks. In total, 46% of the respondents had to chase up results on a weekly basis. As a result, 45% of HCPs have started patients on treatments before getting biomarker results, most commonly due to clinical urgency. In total, 22.8% of HCPs stated that barriers to biomarker testing often impacted their ability to prescribe treatments, with 6.9% stating this is always the case (Figure 3(d)).

Figure 3.

Impact of barriers to treatment-guiding biomarker testing.

HCPs: healthcare professional.

Of HCPs in patient-facing roles, 3.7% believed patients always understood the concept of treatment guiding biomarker testing vs 32.9% who felt they often understood the concept and 48.8% who felt patients sometimes understood the concept (Figure 4(a)). In total, 17.6% of HCPs always had enough time to discuss biomarkers with patients and 32.9% often had enough time. However, 12.9% stated they rarely had enough time for such discussions (Figure 4(b)). In total, 64.6% of HCPs felt the level of information relating to treatment-guiding biomarkers shared with patients was appropriate (Figure 4(c)). The main source of information shared with patients were educational materials developed by charities (shared by 48.8% of patient-facing HCPs) and charity websites or support group details (shared by 46.3% of HCPs) (Figure 4(d)). In total, 18.1% of HCPs stated that patients often asked about biomarker testing, 50.6% said patients sometimes asked about biomarker testing, 25.3% stated patients rarely asked and 6.0% said patients never asked about treatment-guiding biomarker testing (Figure 4(e)).

Figure 4.

HCP opinions regarding patient interactions relating to treatment guiding biomarkers.

HCP: healthcare professional.

3.5. Patient survey

The patient survey returned results from 97 respondents who fulfilled the inclusion criteria. The demographic and clinical characteristics of the cohort are listed in Supplemental Table S2. The largest representation was from patients with lung cancer (44/97; 46.8%) and breast cancer (22/97; 23.4%). Although prostate cancer was not included in the list of prioritized cancer types, 3 prostate cancer patients completed the survey and are included in the 97 patient cohort. For the majority (83/97; 85.6%) of respondents, it was their first diagnosis, with 55.7% having stage IV disease. Most respondents were white (93.8%), lived in England (83.5%), and 52.6% had received university or postgraduate-level education.

In total, 53% of the patients wished they had received more information about their treatments. In total, 56% were aware of having received treatment guiding biomarker testing, with 29% unsure if they had received such testing (Figure 5(a)). In total, 47.3% of the patients had discussed treatment guiding biomarkers either partially or fully with their healthcare provider. In total, 36.8% stated they had not had any discussions on biomarker testing and 15.8% were unsure if such a discussion had taken place (Figure 5(b)). Only 50.5% of the patients felt fully involved in their treatment decision. In total, 27.8% felt partially involved and 12.4% did not feel involved (Figure 5(c)). Of those patients who had discussions around biomarker testing, 50.0% fully understood what the testing was and why it was done, and 48.0% partially understood (Figure 5(d)). For 97.7% of patients, results were given during face-to-face meetings. The majority (68.0%) of patients did not do their own research (Figure 5(e)). Turnaround times for biomarker results were largely similar to that reported by HCPs, although 57.4% of the patients reported waiting a month or longer for results (Figure 5(f)).

Figure 5.

Patient experience of treatment-guiding biomarker testing.

When biomarker discussions took place, most patients (81.8%) had discussions with their oncologist. In total, 27.3% had discussions with their surgeon and 25.0% had discussions with nurses (some patients had discussion with more than one HCP) (Supplemental Figure S4(a)). Where discussions were held, 93% of the patients had confidence in the information given them, and only 9.1% sought a second opinion (Supplemental Figure S4(b,c)). 84.5% preferred to receive information by face-to-face appointments (Supplemental Figure S4(d)) with 98% of the patients receiving their results via such appointments. Only 25% of the patients stated they had received information about biomarker testing, either as leaflets and/or information on websites.

A variety of terms were used when discussing biomarker testing (Supplemental Table S3). Most common terms recalled by patients were “additional tests,” “mutations on your tumor” and “genetic testing,” which aligned well with the most common terms used by HCPs.

3.6. Impact of demographic and clinical characteristics on patient experience of treatment-guiding biomarker testing

Demographic and clinical characteristics that significantly impacted patient experience of biomarker testing are shown in Figure 6. Patients’ awareness of having received treatment guiding biomarker testing was associated with cancer type, with a higher proportion of lung and breast cancer patients stating aware of having such tests (p = 0.0006). Aligned with this finding, testing rates were higher in common (lung, breast, colorectal, or prostate) vs rare cancers (melanoma, sarcoma, brain, or glioblastoma) (p = 0.001). Discussions relating to treatment guiding biomarkers were also more common in common versus rare cancers (p = 0.002). Patients with common cancers were more likely to have done their own research than those with rarer cancers (p = 0.0009)

Figure 6.

Demographic and/or clinical factors significantly impacting patient experience of biomarker testing.

Rare: rare cancer types (sarcoma, melanoma, brain, and glioblastoma). Common: common cancer types (breast, lung, colorectal, prostate).

Other demographic and clinical associations that met the threshold of p < 0.05, but did not remain significant after correction for multiple testing are shown in Supplemental Figure S5. There were regional variations in whether patients wished they had more information on their treatment. Understanding of treatment guiding biomarkers was higher in patients with common cancers. Patients with lung and breast cancer and late-stage metastatic cancer were more likely to have done their own research. Patients were also more likely to have done their own research if they were university educated or did not have other, non-cancer diagnoses.

4. Discussion

This project aimed to bring the patient voice alongside that of HCPs to gain a wider perspective on challenges to accessing treatment guiding biomarkers. Key themes identified in HCP interviews included lack of awareness and/or training, workforce limitations, outdated infrastructure and process inefficiencies. The HCP survey confirmed these findings, with the most commonly cited barriers being workforce constraints, long turnaround times for results, and lack of access to training. Our findings support the ICR consensus statement, which highlights the need for investment in NHS workforce and infrastructure [2]. During interviews, some HCPs suggested a 30% increase in workforce was required to meet demand.

Lack of specific biomarker training was a particular challenge for nurses and ACPs. This aligns with a recent survey of UK nurses, which found low confidence and competency related to genomics [22]. Increasing the amount of dedicated time and provision of suitable training courses could promote significant improvements in staff awareness of biomarker testing. Although online resources such as GeNotes are available, HCPs felt that face-to-face training was more impactful than self-directed learning.

Awareness of biomarker testing amongst HCPs varied by disease specialty, with those working on rarer cancers having less clarity on what treatment-guiding biomarker testing was available. Various sources were used to find available biomarker tests, with national and international guidelines consulted more often than the genomic test directory. The lack of a single directory with all available tests (e.g. IHC in addition to genomic tests) was reported as a challenge.

Roles and responsibilities were shared across HCPs, with considerable variation in the responsibilities for nurses and ACPs, which suggests there is potential to improve standardization across the NHS. Complex processes, with paper-based reporting and/or incompatible information management systems caused challenges in some areas. Chasing results was a common issue, taking HCPs away from core clinical duties. Workarounds such as e-mails and manual data handling are still being used to address insufficiencies in process management and IT systems. These are likely to be non-compliant with the UK Data Protection Act and leaves the NHS vulnerable to cyber-attacks, such as the recent incident at a London pathology partnership, which caused operations in sample management to be halted [23]. Some HCPs interviewed reported employing administrative staff as an interim solution to improve process efficiencies. Automated, internet-based solutions are also available, and would provide a more secure and streamlined ordering/reporting process.

Although uncertainties around funding were raised during the HCP interviews, funding was not seen as a major barrier by most HCPs in our survey. However, the majority of pathologists and clinical scientists in our cohort stated it was one of the three main barriers from their perspective, suggesting that funding remains a challenge for those tasked with performing the tests, even though regular reviews of regional budgets governed by integrated care systems (ICS) are intended to ensure they are sufficient to cover local biomarker testing demand and NGS testing is reimbursed at national level [24]. The Royal College of Pathologists recently outlined the need for urgent investment to support infrastructure and IT improvements, as well as measures to tackle shortfalls in pathology services staffing [25].

In our study, 75.5% of the HCPs used GLHs (or equivalent in devolved nations) for testing. This represents an increase over the 23% reported in a 2023 study [8]. In cases where GLHs were not used, the most common reasons were because local genomic testing facilities were used instead, or there was lack of capacity at the relevant GLH. In our interviews, HCPs noted that sending tests to external laboratories adds complexity and potential for delay, e.g., time in the post, additional admin, laboratory IT systems not linked to patient records, all of which can delay getting the results into the correct local systems. Of those GLHs that have reported their testing turnaround time, the majority reported most biomarker results within 14 days [26]. However, this target relates to time from sample receipt in the GLH to reporting the result. The discrepancies between these reports and our findings may be due to region differences in GLH performance and/or time taken for additional logistics in getting the sample to the lab, as well as inefficiencies in getting the result into the personal health record (PHR).

Our patient focus group highlighted the lack of support and awareness of biomarker testing, with long waits for results. The survey found a significant proportion of patients were unsure or unaware of having received biomarker testing. Higher awareness was observed in patients with lung and breast cancers, where use of treatment-guiding biomarkers is well established. However, even in lung and breast cancer, a significant proportion of patients (14/22 in breast cancer, for example) were unsure if they’d had biomarker testing or stated they had not received such testing. This aligns with a recent European survey that found that 77% of breast cancer patients eligible for testing did not have a genomic test and 45% felt they needed more information [27]. A recently published audit of primary breast cancer in England and Wales found only 55% of the patients in England and 57% patients in Wales received the recommended triple diagnostic assessment (HER-2, estrogen receptors (ER), and progesterone receptors (PR)) in a single hospital visit [28]. A similar UK audit of bowel cancer treatment found testing rates of only 27% for MMR or microsatellite instability in 2021/2022 [29]. Although this represents an increase over previous years, it is still far short of the NICE recommendation that all colorectal cancer patients should receive genetic testing. There is a clear need for improvement in this area.

Regarding turnaround time for biomarker tests, the patient experience was similar to that reported from HCPs, with only a minority receiving results within 2 weeks. Amongst the 47.3% of the patients who had had discussions relating to biomarker testing, almost all patients understood the reasons for testing, either partially, or in full. In such cases, most patients felt involved in their treatment decisions and had confidence in the information given to them. The majority of such discussions took place face-to-face, which was the method preferred by almost all patients. This suggests that where biomarker testing is taking place, the communication process with patients is largely effective. However, patients in the focus group felt they had insufficient time with HCPs and expressed a desire for dedicated HCPs who can accompany them through their journey. Although only 12.9% of the HCPs felt they rarely had enough time to explain biomarker testing, more than 50% of the patients that did not recall having any such discussions. In total, 64.6% of HCPs believed the information shared with patients is appropriate, whereas 53% of patients wished they had received more information. Most patients recalled having discussions with their oncologist, aligning with the 90–95% of the oncologists who stated discussing tests and communicating results as within their roles and responsibilities. In total, 67–77% of the nurses and ACPs also described such communications as part of their roles, whereas only 25% of the patients recalled discussing biomarker testing with nurses.

Materials were only shared in 25% cases, and both patients and HCPs identified a requirement for simpler, plain language explanations of biomarker testing. A range of different terms were used when describing treatment-guiding biomarker testing, and simplification and standardization may foster improvements in communication.

More concerning is that a high proportion of patients did not recall having discussed treatment-guiding biomarker tests, particularly in rarer cancer types. Only 25% of the patients with rarer cancers were aware of having had treatment-guiding biomarker testing performed. For example, of four melanoma patients (of which three were stage IV and therefore eligible for testing), only one reported having received treatment-guiding biomarker testing, with three unsure whether they had received such testing. Although it is possible that these patients did, in fact, have biomarker tests performed, the responses indicate that improvements in testing rates and/or communication are required.

In an EU survey that included 59 cancer patients from the UK, only 7 (12%) had received a biomarker test. In the same study, HCPs reported a UK test order rate 66% [9]. Although the genomic test directory is updated to include new companion diagnostic tests following NICE approval of targeted therapies [30], HCPs in our study noted that reflex testing was not established in all cancers, a likely contributor to the lower than optimal biomarker testing rates, since reflex testing by pathologists has been shown to expedite and standardize testing versus on-demand testing [31]. There was also limited awareness of the availability of novel, unapproved biomarkers that could enable patients to access clinical trials of exploratory precision medicine therapies.

The challenges to biomarker testing have significant impact on patient care. In total, 85% of HCPs stated barriers to biomarker testing “sometimes,” “always” or “often” impact their ability to prescribe treatment, and 45% of HCPs reported prescribing treatment before receiving a biomarker result, most commonly in cases of aggressive disease and/or rapid clinical deterioration.

Only 28.9% of the patients had done their own research. Together with the observation from HCPs that a substantial proportion of patients was never or rarely proactive in asking about treatment-guiding biomarkers, this indicates a gap in patients’ ability to advocate for themselves. Given our cohort was over-represented for respondents with university education, this problem may be even larger in the broader UK population. In the US, higher income, prior employment in a healthcare field, and discussions with an oncologist increased the probability of being familiar with biomarker testing. A need for more/improved information was higher in males, those of lower income and patients with metastatic disease [10].

Our study did not identify any significant differences in patient experience between male versus female, rural versus urban areas, or deprived versus less deprived regions of the UK, although the relatively small number of participants precludes making strong conclusions. Patients were more likely to do their own research if they had a common cancer, metastatic disease or had a university education. Only 4.3% of the patients with a rarer cancer type did their own research and this may contribute to the lower biomarker testing rate in rare cancers, with patients unable to advocate for themselves. A good understanding of healthcare options is vital to promote shared decision-making, and to ensure the ethical requirements of patient informed consent is fully met. There is also evidence that shared decision-making can improve patient adherence to treatment regimens [32].

The challenges identified are not just a UK problem. A US study of over 30,000 NSCLC patients reported that 497 (49.7%) are lost to precision oncology because of factors associated with getting biomarker test results. Among 50.3% of the patients who did receive results from a biomarker test, 147 (29.2%) did not receive appropriate targeted treatments [33]. A US oncology network survey of NSCLC patients in 2022 reported a turnaround time from test orders to results availability of approximately 2 weeks, however only 35% of the patients received test results for all five recommended biomarkers (EGFR, ALK, ROS1, BRAF, PD-L1) before first-line treatment initiation. NGS testing rates increased with time but remained below 50% over the study period [34].

Our study has several limitations. Due to the focus on patient and HCP experiences, details of specific sample types and molecular analyses performed were not collected. There was limited representation in the devolved nations (i.e., outside of England), particularly for HCPs. There was also limited representation of rare cancer types for both HCPs and patients. The survey data reflects the best recollection of participants, which may not reflect actual metrics (e.g. biomarker testing rates). Due to the surveys being conducted online, the patient cohort is likely to be biased toward more engaged patients of higher socio-economic status. In total, 52.5% of the patients surveyed had received a university education, compared with 33.8% in England and Wales as a whole [35]. There was limited representation from ethnic and other minority groups, which may reflect the online methodology used, but also inequalities in access to genomic and precision that were highlighted in a recent report from the NHS Race and Health Observatory [13]. These challenges are common for online surveys, and other approaches may be required to adequately sample under-represented communities. Another limitation is the relatively small sample size for patients, which limited the ability to assess clinical and demographic covariates associated with patient experience.

5. Conclusions

Precision medicine has the potential to save lives whilst also improving the efficiency of healthcare. Transforming oncology treatment to ensure full and equitable patient access to precision medicine requires significant investment in infrastructure, capabilities and workforce. Our study highlights the practical challenges that are currently impacting the implementation of precision medicine and indicates a range of hurdles that must be addressed. Systemic change is required, with a particular focus on improving IT, streamlining and standardizing ordering and reporting processes, increasing workforce and staff training. Additional benefits are likely to be seen from providing educational resources specifically tailored to patients and carers, to enable more effective communication and increased patient advocacy.

Funding Statement

This project has been developed as part of a Patient Advocacy Group Partnership between Macmillan Cancer Support and AstraZeneca UK Limited. AstraZeneca has provided funding to cover the costs associated with the project.

Article highlights

• The study identified the following key barriers to accessing cancer treatment-guiding biomarker testing in the UK

  • ∘ Insufficient workforce

  • ∘ Insufficient training, particularly for nurses and advanced clinical practitioners

  • ∘ Long turnaround time for test results

  • ∘ Pathologists and lab scientists identified funding as a key challenge

• 47.5% of cancer patients stated they had not received treatment guiding-biomarker tests or were unsure if they had received such tests.

• Access to treatment-guiding biomarkers is better in patients with common cancers than for patients with rare cancers, but in all cases falls significantly short of NICE guidelines.

• 45% of HCPs stated they may start a patient on treatment without waiting for a biomarker test result

Author contributions

Study conception and design: NM, JH, LJ, DB, RB, NG-H, RD, MJ, DS

Data acquisition: JH, LJ, VS, DB, RB, MJ, KW

Data analysis and interpretation: NM, JH, LJ, DB, RB, NG-H, VS, MJR, MJ, DS, KW, RD, RM

Initial draft of manuscript: MJR

Critical review/editing of manuscript: all authors

Disclosure statement

NG-H, KW, DS, and RM are employees and shareholders in AstraZeneca. MJR is a consultant for AstraZeneca. NM, LJ, and VS and JH were employees of AstraZeneca at the time the research was performed. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript

Reviewer disclosure

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Ethical declaration

The study was performed in compliance with local data protection laws and regulations and followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. Informed consent was obtained from the participants involved.

Supplemental data

Supplemental data for this article can be accessed online at https://doi.org/10.1080/14796694.2025.2535098