Primary Care Update archive

GP case study: Undertaking NCDA - Rare syndromes and the diagnostic challenges we face

This piece was written by Dr Nelly King, Macmillan GP Facilitator.

Diagnosing Jane

Jane, a 32-year-old woman, presented in her first pregnancy with increasing migraines and pre-eclampsia in her 19th week of gestation. Jane revealed that her mother was diagnosed with bilateral renal cancer in her thirties and in her late forties with end-stage renal failure. At this time, we didn’t know more about the wider family history as the patient's family lived abroad and all grandparents had died young.

Jane underwent a renal ultrasound in late pregnancy and the results were found to be normal. However, it was recommended that Jane should have another scan once the baby was delivered. Jane was treated with labetalol throughout pregnancy and her blood pressure was reasonably controlled, however, she experienced skin itching as a side effect and was eager to stop the treatment once the baby was born.

At her six-week postnatal check, Jane’s blood pressure was 154/106, having just come off labetalol a week prior. Jane also reported that her sister had been diagnosed with bilateral phaechromocytoma and that clinicians were suspecting von hippel-lindau syndrome (VHL). I had never heard of this syndrome and had to do some internet digging to address by PUNs and DENS.

A repeat ultrasound confirmed polycystic kidney disease as well as multiple hard renal masses. The recommendation was urgent referral to nephrology. Jane was apprehensive and expressed her wishes to be referred privately once she returned from holiday. Giving a patient choice and space to process the enormity of a potential diagnosis is vital in the cancer journey.

In brief, it took three weeks for Jane to see a nephrologist following her second ultrasound. The private nephrologist suggested that the disease was too complex for him to manage and the patient was transferred back to NHS care. Jane underwent a CT scan and biopsy, confirming a renal tumour and pheochromocytoma. Since diagnosis, Jane has had several partial nephrectomies and her life has been challenging juggling VHL, family and a career.

In the National Cancer Diagnosis Audit (NCDA) Jane appeared twice as she had two tumours in different organs, even though they were part of the same syndrome. This made me consider how we record rare syndromes as part of the audit. I also wondered whether we should be referring these patients directly to VHL centres, rather than to local secondary care for investigation and treatment.

Lessons learnt

This case highlighted the importance of taking a comprehensive family history, carrying out a clinical audit and reflecting on current practice.

Taking part in the NCDA has given me a deeper insight into patient journeys and has made me realise there is huge potential for improving existing clinical pathways and how we approach cancer investigations.

An audit is traditionally not very exciting and is often time-consuming. However, unlike other audits, NCDA has given me an opportunity to share learned lessons and to influence the way we approach cancer conversations within my practice. Within a year of taking part in the audit, our cancer prevalence increased by 1%. I am sure there are multiple factors influencing this number, but a significant one has been taking part in the NCDA. I am looking forward to taking part in the next one.

Please note, all names have been anonymised.

Genomics: what does it mean and what should we think?

As our understanding of genomics improves and it forms an increasing portion of cancer care, GPs need appropriate support and information. Here, members of the Macmillan medical team answer some of the questions that may arise among GPs.

What is the difference between genetics and genomics?

The World Health Organisation (WHO) writes: 'The main difference between genomics and genetics is that genetics scrutinises the functioning and composition of the single gene, whereas genomics addresses all genes and their interconnected relationships in order to identify their combined influence on the growth and development of the organism.'

Why is genomics important for cancer? 

As we understand more about the mutations responsible for cancer, genomics has the potential to improve cancer care throughout the pathway. The following could all be improved through genomic research:

  • prevention
  • early diagnosis
  • prognosis
  • treatment selection
  • personalisation of care
  • management of recurrence.

We are increasingly seeing targeted therapies in clinical trials, and multi-panel screening is allowing for risk stratification in cancer treatment, reducing the number of people being given unnecessary chemotherapy.

What is the 100,000 genomes project?

First announced by David Cameron in 2012, the 100,000 genomes project is a research project aiming to improve our understanding of genomics and cancer.

The whole genome is sequenced from both the tumour and healthy cells to better understand the mutations which may be responsible for the tumour and its response to different therapies. The project should be completed by the end of September 2018.

But what’s new?

In 2017, NHS England (NHSE) announced a new national Genomic Medicine Service (GMS).  Building on the 100,000 genomes project, the GMS will adopt a common national approach using a national directory and a network of seven genomic laboratory hubs.

The roll out of this service will begin on 1 October 2018. By providing national guidance, the variation in availability and quality of testing should be reduced with consistent and equitable access across the country.

Who will be tested?

The exact tests different patients will undergo will be defined in the test directory. It specifies the technologies, targets, scope and indication for testing. It will be updated annually.

In the majority of cases, large panels will be screened whilst in some childhood and haematological cancers, whole genome sequencing will be completed.

A draft version of the test directory is available.

Is this for all 4 nations? 

No, at present the service will cover England only.  

How is Macmillan involved?

At Macmillan, we recognise the potential benefits of genomics and personalised medicine.

We are working closely with NHSE to ensure the service delivers all it promises and that people living with cancer are central to the work. We will be working with partners to produce information and support for both patients and professionals.

What if someone comes to me and is worried about a family history of cancer? 

All cases will be slightly different and it is important to know your local guidelines. Your local genetics service should have guidance on when it is appropriate to refer a patient to their team.

The cancer genetics app is a free resource with guidance on hereditary cancers and referral guidelines. Please note that guidelines may vary slightly depending on where you are based.

What about if someone has bought a genetic testing kit?

At present, 23andme is the only direct to consumer genetic test available in the UK. It is not whole genome sequencing and is not diagnostic, so it only tests for gene variants associated with increased risk of certain conditions. It does however test for carrier status including cystic fibrosis and sickle cell anaemia.

Their website states 'We encourage you to speak to a genetic counsellor' but they do not offer these services themselves, and in the UK the public cannot access a genetic counsellor directly unless they see someone privately.

This may lead to patients presenting to you and asking for referral. In many cases this will not be appropriate and you will need to discuss the meaning of risk and how additional factors such as lifestyle can contribute to reducing the overall risk of conditions. It may be that the results are the necessary driver to promote positive lifestyle changes.

Remember, in some cases, a patient’s results may warrant discussion with or referral to a counsellor.

The full impact of direct to consumer genetic testing on the healthcare service is not currently understood with no data on whether the reality or the concern is greater.

What can I do if I want to learn more about genomics?

Health education England has developed online resources for clinical teams which are free to access for NHS staff. The Royal College of General Practitioners (RCGP) has also published a series of podcasts and webinars on genomics. Although neither is cancer specific, they are a useful resource.

As we receive more information from NHSE we will be working with partners to produce further education and tools.

Case study: patient's perspective - My cancer journey

At the age of 57, I was diagnosed with stage 1 grade 3 breast cancer. As someone who has always prioritised exercise, drinks little alcohol, has a reasonably healthy diet and has very little cancer in the family, it was a shock. Although, to be honest, I’m sure it would be a shock for anyone.

It was helpful that my diagnosis was over several appointments, that gave me time to absorb the information and get an understanding of what was going on. Eventually, after a mastectomy, I was really grateful to find it had not metastasised.

Throughout the subsequent chemotherapy and beyond, the most important thing I have done is to try and grab back some control for myself, in whatever way I can, and with the support of those around me and many charities.

I was greatly encouraged by my oncologist and surgeon to exercise throughout treatment and beyond and they are happy to discuss what I can do for myself. My GP was supportive of complementary treatments alongside my medical care, and this helped give me more confidence in what I did.

For me, the great art of getting through all of this has been to maintain a proactive and positive outlook, and having medical staff support me in that has been hugely helpful.

Throughout, I called the Macmillan and Breast Cancer Care helpline to get advice and I also used their leaflets. I visited the Penny Brohn centre in Bristol where I was able to stay with a friend who had also had breast cancer.

On the advice of my GP, I also went to the Haven in London for nutritional input and some complementary treatments. The charities Cancer Options and Together Against Cancer were a great source of information on what to do alongside my treatment, both to support me at the time and to try and keep me cancer-free.

During my treatment, I fitted a water filter at home, moved to a more vegetarian diet, started juicing (though that’s more spasmodic now!) and attended local food-related cancer workshops, including the preparation of fermented vegetables. Maybe none of this is proven, but it made me feel better.

I really feel that nutritional advice alongside treatment would be so helpful. It wasn’t even suggested to me that I drink less alcohol, even though the World Health Organisation have stated it is a known carcinogen in breast cancer.

Directing someone with a cancer diagnosis to relevant local charities is a real support. All the charities I have mentioned provide free services.

Macmillan has a wealth of information on diet and nutrition for people living with cancer. Information for patients can be found on our website or ordered for free on be.macmillan. There is also plenty of recipe inspiration.

Opinion piece: E-cigarettes and smoking

This article is an opinion piece written by one GP. It does not necessarily reflect the views of Macmillan.


It is estimated that just under 3 million adults in Great Britain currently use E-cigarettes [1].

E-cigarettes heat a liquid which contains nicotine. The vapour created is inhaled, and gives smokers the nicotine hit to help with their cravings.

With more and more people using it, the question arises, 'Should we be advocating our patients to use E-cigarettes as a smoking cessation aid?'

The evidence

a) Effectiveness

E-cigarettes have become a popular stop smoking aid in England, with the majority of users, now ex-smokers, having managed to stop smoking completely.

We know that face-to-face support from a local stop-smoking service offers smokers the most effective way to quit. Of the smokers who combine the two, the most popular and most effective, around two-thirds quit successfully [2].

b) Safety

Public Health England’s (PHE) 2015 review found that vaping is around 95% less harmful than smoking [3]. The Royal College of Physicians (RCP) came to a similar conclusion in its 2016 report [4].

Long term E-cigarette use is associated with substantially reduced levels of measured carcinogens and toxins relative to smoking combustible cigarettes [5].

However other evidence states that vapourised E-cigarette fluid may be more harmful than previously thought due to its pro-inflammatory and cytoxic effect on the alveolar macrophages [6].

The dilemma

If E-cigarettes are effective as a smoking cessation aid, is there a case to be made for prescribing them?

PHE believes there is compelling evidence that E-cigarettes be made available to NHS patients [7]. Evidence suggest that they are safer than combustible cigarettes and effective as a smoking cessation aid.

Many clinicians, myself included, are still sceptical to recommend a cigarette smoker to start using E-cigarettes, let alone argue for E-cigarettes to be prescribed on the NHS.

The dilemma is whether a clinician supporting the usage of an E-cigarette would be advising the patient to swap cigarette smoking to a different method of nicotine dependence.

E-cigarettes were developed as a commercial product, with its manufacturers presumably hoping for ongoing business from long-term use by customers. This is in stark contrast to other products such as Varenicline, which were developed as medication, intended for short-term use only.

In summary, for smokers who have struggled to stop in the past, E-cigarettes are an option to consider, especially when used alongside support from a Stop Smoking Service, however the dilemma continues. As clinicians, our role is to provide our patients with the best evidence, to help them make an informed choice.

Spotlight on Mac resources: Coding and safety netting for cancer

University College of London Hospitals (UCLH) Cancer Collaborative has developed an e-learning module with Macmillan Cancer Support.

Coding and safety netting in the context of cancer raises awareness of these tools amongst GPs to improve clinical care and early cancer diagnosis. We are delighted that the module has been accredited by the Royal College of General Practitioners (RCGP).

The course aims to help GPs:

  • be aware of the clinical and non-clinical implications of coding
  • understand the benefits of coding and safety netting in improving clinical care, diagnosis and community management of individuals with cancer and other long term conditions
  • gain skills in high quality coding and electronic methods of safety netting within everyday clinical practice.

'Coding and safety netting tools are vitally important tools for GPs to actively manage patients that either have a cancer diagnosis or may have cancer. It can improve patient safety, early detection and patient care by enabling GPs to have the most up to date information about their patients available at their fingertips.

Our e-learning module guides GPs, trainees and other primary care staff through the process of coding and safety netting so they are fully equipped to use these tools to benefit their patients.' – Dr Afsana Bhuyia, GP Macmillan Improvement Lead

Topical highlights

The vital role of GPs in early cancer diagnosis

Recent data collected on cancer diagnosis in England shows a sustained reduction in the proportion of cancers presenting as emergencies and an increase in cancers diagnosed at an earlier stage [1]. Academics at the Universities of Edinburgh and Leeds largely attribute this to improved cancer diagnosis in primary care and have praised GPs [2].

The Achieving World Class Cancer Outcomes 2015 - 2020 strategy [3] recommends that emergency presentations are measured using a proxy of first admission to hospital. This is important, as evidence shows increased mortality for emergency presentations of cervical, colorectal, breast, lung and prostate cancers [4]. The data shows a fall from 21% of all presentations to 19% between 2012 and 2017.

The increase in cancers presenting at an earlier stage is also important, as evidence shows improved survival rates for earlier presentations [5]. The data shows an increase in survival rates, from 46% in 2013 to 53% in 2016.

Dr Andrew Green, the BMA GP Committee’s Clinical and Prescribing Policy Lead, comments in Pulse Today, ‘The reasons for these changes are likely to be complex, but increased awareness among patients and high levels of vigilance from GPs are certainly likely.’ [2]

Telling patients to 'fight' cancer puts them under pressure, says Macmillan

This headline from The Daily Telegraph is based on findings from the recent Macmillan report ‘Missed Opportunities’, which considers the role of Advance Care Planning (ACP) and barriers to its implementation.

The report outlines the commonly held belief that describing people with cancer as ‘fighters’ keeps a person’s spirits high and instils in them a sense that the professionals supporting them are helping them to ‘fight the battle’. However, the longer these fighting conversations continue, the harder it becomes for both the person and the professional to broach the subject of ACP, evidenced by several key findings:

  • More than one quarter of cancer patients reported feeling guilty if they couldn’t stay positive about their disease.
  • Many patients described the effort to keep a brave face as exhausting.
  • Health and social care professionals reported that one of the biggest barriers to introducing conversations about dying is the pressure to stay positive and support people to ‘fight’ cancer, even when they have received a terminal diagnosis.

‘Fighting cancer’ as a narrative is a barrier to timely Advanced Care Planning and 'We need to let people define their own experiences without using language that might create a barrier to vital conversations about dying.' – Adrienne Betteley, Specialist Advisor for End of Life Care at Macmillan Cancer Support.

National Data Opt-Out Update

As of 25 May, people living in England can opt out of sharing their confidential patient information for purposes beyond their personal care, for example, research and planning. People who wish to opt out can do so online or by calling 0300 3309412 and can review or change their preference at any time.

It is expected that patients may ask questions about the opt-out to GPs and other practice staff. A number of resources including posters and handouts for patients and a factsheet for health care professionals have been developed to support you with this.

In addition, the Royal College of General Practitioners (RCGP) have developed a comprehensive toolkit for GPs, along with an e-learning module.

Macmillan supports the better use and sharing of data if the right safeguards are in place and if people are supported to make an informed choice.


Opinion piece: E-cigarettes and smoking

  1. Use of electronic cigarettes (vapourisers) among adults in Great Britain, Action on Smoking. Last accessed 14/8/2018.
  2. Using -e-cigarettes-to-stop-smoking, NHS. Last accessed 14/8/2018.
  3. 'E-cigarettes: an evidence update', Public Health England report. Last accessed 14/8/2018.
  4. Nicotine without smoke: Tobacco harm reduction, Royal College of Physicians. Last accessed 14/8/2018.
  5. Shahab L, et al. Nicotine, Carcinogen, and Toxin Exposure in Long-Term E-Cigarette and Nicotine Replacement Therapy Users: A Cross-sectional Study’. Annals of Internal Medicine. 2017; 166(6):390-400.
  6. Scott A, et al. Pro-inflammatory effects of e-cigarette vapour condensate on human alveolar macrophages. Thorax Published Online First: 13 Au-gust 2018. doi: 10.1136/thoraxjnl-2018-211663.
  7. 'PHE publishes independent expert e-cigarettes evidence review'. Last accessed 14/8/2018.


The vital role of GPs in early cancer diagnosis

  1. Cancer outcome metrics, The National Cancer Registration and Analysis Service (NCRAS). Last accessed 20/08/2018.
  2. 'GPs 'main driver' behind increase in early cancer diagnoses', Pulse Today article. Last accessed 20/08/2018.
  3. Achieving world-class cancer outcomes: a strategy for england 2015 - 2020, NHS. Last accessed 20/08/2018.
  4. McPhail, S., et al., Emergency presentation of cancer and short-term mortality. Br J Cancer, 2013. 109(8): p. 2027-2034.
  5. 'The likely impact of earlier diagnosis of cancer on costs and benefits to the NHS', Gov.UK report. Last accessed 20/08/2018.