Educational resources for healthcare professionals

There are many helpful resources for healthcare professionals working in cancer who are interested in genomics. View our information which includes workshops and training opportunities, reading lists and other useful information.
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Genomics overview

Genomics is the study of an organism’s genome – its genetic material – and how that information is applied. All living things, from single-celled bacteria, to multi-cellular plants, animals and humans, have a genome – and ours is made up of DNA.

Training resources

Genomics Education Programme

North Thames Genomic Laboratory Hub

South East Medicine Service Alliance

East Genomic Medicine Service Alliance

North West Genomic Medicine Service Alliance

Central and South Genomics Medicine Service

Further resources

Education and training from Macmillan

We offer different training opportunities for health and social care professionals working in cancer care.

Webinars, lectures and workshops

Webinars and lectures

Workshops

  • Workshop 1: Drawing a family pedigree
    For this workshop you will need to complete the National Lynch Sydrome project's colorectal cancer option 2 training.

    This training is for multidisciplinary team (MDT) members to help them identify patients likely to have Lynch syndrome and refer these patients to genetic testing.

    Find out about the workshop

    View workshop supporting documents


    You should also start your clinic set-up process. Find out more about the clinic set-up process.

    Additional resources:

  • Workshop 2: Confidentiality & Ethics

    This workshop will review:


    Confidentiality in Genomics

    Read the Consent and confidentiality in genomic medicine medicine document by the Royal College of Physicians.

    • Most of the confidentiality points discussed in this booklet refer to predictive genetic testing but it is recommended that you read point 4.2 and case studies
    • Save it in a safe place as a reference document.

    Ethics

    • This will be discussed by the regional lynch syndrome nurse through a presentation
    • They will help you identify when ethnical situations arise, generally related to "non-disclosure" of information within the family
    • Main message: there are several forums to discuss ethical issues in Genomics. You can start by discussing with your multidisciplinary team (MDT), in document, and highlight to clinical genetics or specialised services so they can deal with them.

  • Workshop 3: The Consultation (Part 1)

    As part of your tutorials you will be able to see a full consultation by one of the Regional Lynch syndrome nurses.

    1. After, discuss the consultation and break it down into sections. This is so its easier for you select an agenda when you have your consultation and know the essentials that need to be covered. The consultation will follow the structure of this flowchart.
    2. The information that you need to discuss is covered in the RM Partner's information leaflet for patients with Endometrial Cancer
    3. To find your own way to explain Lynch syndrome, read the RM Partners’ patient information webpage as it’s easy to understand, and uses a language patients will be able to understand as well (Reviewed carefully by Lynch syndrome UK)
    4. Save all the documents available through this training in a folder where you can find them easily as you will need them later.
  • Workshop 3: The Consultation (Part 2)

    Please, watch these recommended videos that will help you find your own style to have your genetic counselling consultation: 

    1. To see how others explain the 3 possible results of genetic testing watch these short videos (max. 2.5 minutes). They will give you ideas about how you would like to explain this yourself 
    2. Other short related videos available through the genomics education programme 
    3. To understand how are genetic variants classified 
    4. What is a genome video 
    5. Autosomal dominant inheritance 
    6. How is genomics used in cancer?
  • Workshop 4: Consultation in action - finding your style

    The consultation in sections: finding your own style

    Write down how would you like to explain each section of the consultation. Send it over your Lynch syndrome nurse for feedback before or after practising the different sections of the consultation.

    Exercise: think about what you would cover during your consultation in these scenarios

    1st scenario: Maria has been diagnosed with CRC at 42. Her tumour sample IHC result showed loss of PMS2. She had a successful surgery and she is well. She works in genetics so you don’t need to teach your patient about genetics.

    • How would you explain Lynch syndrome?
    • How would you go through the 3 possible results?

    2nd scenario: John has been diagnosed with CRC at the age of 55y. He had surgery but had to have additional chemotherapy which will start in 1 month. He works as a health care assistant in your hospital. His IHC result showed loss of MLH1 & PMS2. MLH1 promoter Hypermethylation was absent. He understands genetics but he is not an expert.

    • Would you go through what DNA is?
    • How would you explain Lynch syndrome?
    • How would you explain the 3 possible results?

    3rd scenario: Jennifer has been diagnosed with CRC at the age of 36y. She had surgery but the cancer has metastasized to her liver and kidneys. She is going to have palliative chemo but she hasn’t got a start date yet. She hasn’t finished school and used to work in McDonalds, but due to her illness she is unemployed now. She would like to go back to work and study to finish her A levels. McDonalds can sponsor her for her A levels course. Her IHC show loss of MSH6. She is not very familiar with what DNA is but some understanding from the mainstream media. She looks depressed.

    • Would you go through what DNA is?
    • How would you explain Lynch syndrome?
    • How would you explain the 3 possible results?
    • Do you need to consider her emotional wellbeing?
  • Workshop 5: Full consultation & final documents

    Full consultation:You will have the opportunity to practice your full consultation

    • You will practice with your regional Lynch syndrome nurse using your own style which you developed and have already written down.

    Go through these documents

    A couple of documents to save and that you might find helpful before you start your clinic.

    • Family history questionnaire
    • Example of mainstreaming letter

    Make sure that you have your regions:

    1. Record of discussion form
    2. Germline genetic testing blood request form
    3. Your SOP has been approved by your team, cancer alliance representative, and clinical genetics department.
  • Workshop 6: Clinic set-up

    Activities for clinic set up should start alongside Workshop 1 as it can be tenthly process (3 months on average). Your regional Lynch syndrome nurse and cancer alliance can provide support for this.

    Find out more about clinic set-up

Counselling and consent

Checklist

  • Has the patient had enough information and time to consider testing and its consequences?
  • Have the conversation and consent form been documented, recorded and stored according to local policy? Always document consultation as a written letter to the patient and sharing correspondence with the GP.
  • Has the patient been provided with:
    • Record of Discussion Form to sign (this is the consent form: one copy for patient, one for notes)
    • Patient information leaflets
    • Contact details of the clinical team
    • Genomic Medicine Service (GMS) test request form (if using phlebotomy services for blood sampling)
  • Has the patient been informed of logistical procedures including:
    • How the test will be conducted
    • When and how to expect results
    • How to access support whilst waiting for results

You may also want to review the Genomics Education Programme competency framework for consent.

Frequently asked questions

General

  • What is 'mainstreaming'?

    Mainstreaming genomic testing means delivering a genetic test for breast cancer patients who meet the standardised criteria set out in the National Genomic Test Directory. This is a simple blood test that can be ordered by the Breast Cancer Team instead of being outsourced/referred onto an external clinical genetics team.

    The test looks for a ‘Germline’ change in the patient’s DNA sample that might be a contributing factor to their cancer diagnosis.

    The results of the test are ‘actioned’ by the breast team, which include referring the patient to clinical genetics if it is necessary (see ‘How do I and when do I need to refer to Genetics Services?’ FAQ below).

  • Why do we need 'mainstreaming'?

    Testing within the breast cancer team speeds up results, reduces the number of healthcare professionals the patient has to interact with and hospital appointments they have to navigate during a stressful time. It ensures the patient can access relevant treatment in a timely manner based on their results.

    The patient will be offered counselling and consent for this blood test in the days after their diagnosis (vs seeing genetics in many places this is a waiting list of more than 3 months).

  • What is the difference between a germline and somatic change?

    Germline mutations are inherited genetic changes that are present in the DNA of every cell in the body, including sperm and egg cells. These mutations can be passed down from generation to generation and can increase the risk of developing certain diseases, including cancer.

    Somatic mutations, on the other hand, are genetic changes that occur in non germline cells during a person's lifetime. These mutations are not present in every cell of the body and cannot be passed down to offspring. Somatic mutations can occur due to a variety of factors, including exposure to environmental toxins, aging, and errors that occur during DNA replication.

  • How do I and when do I refer to Genetics Services?

    A patient should be referred to Genetics Services when:

    • When patient has a positively identified pathogenic variant.
    • When a patient has a variant of uncertain significance (VUS).
    • When a patient has a significant family history.
    • When you are not sure.

    Refer to local clinical genetics team, usually using a standardised form via email that will be accessible via your nearest Genomics Laboratory Hub website.

  • How do I calculate a patient's risk?

    Consider using validated tools recommended and developed by genetics services such as:

  • How do I counsel a patient?

    Please read the genomics toolkit r208 conversation and consent guide to find out more.

Breast

  • How will the results of positive test affect treatment?
    • Targeted therapies: established biomarkers of PARPi responsiveness, denosumab. Indicative of sensitivity to DNA-damaging chemotherapies, including anthracyclines. Informs use of platinum-based chemotherapy in a neo adjuvant setting.
    • Surgeries: informs risk-reducing surgery: mastectomies or Bilateral Salpingoophorectomies.
    • Surveillance: MRI, Mammogram (NHS Breast Screening Programme Guidelines).
    • Chemoprophylaxis: Tamoxifen, Raloxifene.

Colorectal

  • How will the results of a positive test for FAP syndrome affect treatment?

    Surgeries:

    • colectomy with ileo-rectal / distal sigmoid anastomosis
    • restorative proctocolectomy (St Mark's Polyposis Guidelines, 2022).

    Surveillance:

    • dependent on risk reducing surgeries undertaken
    • 1-3 yearly colonoscopy: commencing 12-14 years old (BSG Guidelines 2019).

Gynae

  • How will the results of a positive test in the R207 (Ovarian) panel affect treatment?

    Targeted therapies:

    • Established biomarker of PARPi responsiveness
    • Denosumab
    • Indicative of sensitivity to DNA-damaging chemotherapies, including anthracyclines.

    Surgeries:

    • Informs risk-reducing surgery: bilateral mastectomy.

    Surveillance:

    Chemoprophylaxis

    • Tamoxifen, Raloxifene.

Lynch syndrome

  • How will the results of a positive test for Lynch Syndrome (R210 panel) affect treatment?

    Targeted therapies & chemoprophylaxis:

    • Aspirin: (NICE guidelines 2020) between the ages of 25- 65 years. Aspirin has been shown to reduce the long term risk of cancer in Lynch syndrome by around 50%. Trials to determine the best dose of aspirin for cancer prevention are still ongoing. Patients need to discuss with their GP whether you have any contraindications to taking aspirin. Patients younger than 25 who wish to start taking aspirin should with their medical team. To find out the latest information and recommendations in aspirin, visit the CAPP3 trial website.
    • Immunotherapy.

    Risk reducing surgeries:

    • Hysterectomy & Bilateral Salpingo-Oophorectomy: Women who have completed their family may consider risk-reducing surgery to remove the uterus, fallopian tubes +/- ovaries, after the age of 35. Hormone replacement therapy is usually recommended after risk-reducing bilateral Salpingo-Oophorectomy to offset negative impact of premature menopause, up until the time at which natural menopause would be expected to occur.

    Surveillance:

    2 yearly colonoscopy

    • MLH1 and MSH2 gene carriers: start at 25 years old
    • MSH6 and PMS2 gene carriers: start at 35 years old (BSG Guidelines 2019).

    Lifestyle advice to reduce the risk of colorectal cancer:

    • Losing weight can reduce the risk of early onset colorectal cancer by half
    • Stopping smoking
    • Dietary advice: high fibre, low fat, with plenty of fruit and vegetables. Try to eat less red and processed meat. It is also good for your general health that you include starchy foods in your diet such as plantains and green bananas (CAPP2 evidence on resistant starch).

    One-off screening for Helicobacter pylori: H. pylori is a bacteria that 30% of the population have in the stomach. Eradication of these bacteria may reduce the lifetime risk of gastric cancer by up to half. To arrange testing for this contact your GP. This is recommended before commencing aspirin chemoprophylaxis.

    Symptom Awareness: Prompt investigation of any symptoms (gynaecological, urinary, gastrointestinal, dermatological and so on).

  • Lynch Syndrome: how do I and when do I need to refer to Genetics Services?

    Always following results: Discuss your results in the result forum allocated to you by your Lynch syndrome nurse for safety netting to discuss recommendations for your patients, which will include: cancer prevention programme and surveillance recommendations if VUS or negative.

    Refer to local clinical genetic team, usually using a standardised form via email that will be accessible via your nearest Genomics Laboratory Hub website. Enclose the following in your referral:

    1. Attach histopathology reports
    2. Attach minutes from cancer MDT meeting
    3. Attach family pedigree
    4. Call and inform patient they will receive an appointment for genetic referral.

    If the result is negative or VUS the case might be virtually reviewed and your patient might not receive an appointment. You will find out when you discuss your results in the results forum.

Results key points to cover

Breast

  • Negative: no pathogenic variant detected

    No onward referral to Clinical Genetics needed unless:

    • There is a significant family history of breast/ovarian/prostate/pancreatic cancers
    • Age at presentation is very young (<30yrs)
    • Personal history of multiple cancers

    May need emotional support and reassurance.

    Send generic letter with further details.

  • Positive: a pathogenic variant is detected in one of the seven genes in R208 panel

    Add to MDT for further management discussion:

    • Risk reducing surgery
    • Surveillance
    • Chemoprophylaxis management
    • Referral to Urology (men)
    • Gynaecology (women).

    Onward referral to Clinic Genetics required:

    • They will arrange cascade testing and provide support for ‘To Whom it May Concern’ Letters to relatives.
    • Inform patients that relatives will need to contact their local GPs for a referral to their nearest regional genetics team.

    Send generic letter with further details and document in patient's notes/EPR.

  • Variant of uncertain significance (VUS)

    A variant is detected in one of the seven genes in R208 panel, but there isn't enough clinical evidence to link it to cancer yet.

    These variants may be ‘reclassified’ in the future with more clinical data.

    Onward referral to Clinical Genetics required.

    Send generic letter with further details + document in patient’s notes/EPR.

Gynae

Endometrial cancer testing

  • Negative: No pathogenic variant detected

    No onward referral to Clinical Genetics needed unless:

    • There is a significant family history of breast/ovarian/prostate/pancreatic cancers
    • Age at presentation is very young (<30yrs)
    • Personal history of multiple cancers

    May need emotional support and reassurance.

    Send generic letter with further details.

  • Positive: A pathogenic variant is detected in one of the genes on the R210 panel

    Add to MDT for further management discussion:

    • Risk reducing surgery
    • Surveillance
    • Chemoprophylaxis management
    • Lifestyle advice
    • Colorectal services

    Onward referral to Clinical Genetics required:

    • They will arrange cascade testing and provide support for ‘To Whom it May Concern’ Letters to relatives.
    • Inform patients that relatives will need to contact their local GPs for a referral to their nearest regional genetics team.

    Send generic letter with further details + document in patient’s notes/EPR.

  • VUS: A variant is detected in one of the genes in R210 panel, but there isn’t enough clinical evidence to link it to cancer yet

    These variants may be ‘reclassified’ in the future with more clinical data.

    Onward referral to Clinical Genetics required.

    Send generic letter with further details + document in patient’s notes/EPR.

Ovarian cancer testing results

  • Negative: No pathogenic variant detected

    No onward referral to Clinical Genetics needed unless:

    • There is a significant family history of breast/ovarian/prostate/pancreatic cancers
    • Age at presentation is very young (<30yrs)
    • Personal history of multiple cancers.

    May need emotional support and reassurance.

    Send generic letter with further details.

  • SOMATIC only: Positive A pathogenic variant is detected in the tumour tissue sample

    Consider increased Surveillance.

    No onward referral to Clinical Genetics required unless:

    • There is a significant family history of breast/ovarian/prostate/pancreatic cancers
    • Age at presentation is very young (<30yrs)
    • Personal history of multiple cancers.

    Send generic letter with further details and document in patient’s notes/EPR.

  • GERMLINE: Positive A pathogenic variant is detected in one of the genes in R207 panel

    Add to MDT for further management discussion:

    • Risk reducing surgery
    • Surveillance
    • Chemoprophylaxis management
    • Consider referral to other clinical specialties depending on the gene (ie Breast team for a BRCA1/BRCA2/PALB2/RAD51C/R AD51D variant).

    Onward referral to Clinical Genetics required:

    • They will arrange cascade testing and provide support for ‘To Whom it May Concern’ Letters to relatives.
    • Inform patients that relatives will need to contact their local GPs for a referral to their nearest regional genetics team.

    Send generic letter with further details and document in patient’s notes/EPR.

  • VUS: A variant is detected in one of the genes in the tested panel, but there isn’t enough clinical evidence to link it to cancer yet

    These variants may be ‘reclassified’ in the future with more clinical data.

    Onward referral to Clinical Genetics required.

    Send generic letter with further details and document in patient’s notes/EPR.

Further resources

Additional resources

Reading lists

All cancer types

  • Calzone, K. A., Kirk, M., Tonkin, E., Badzek , L., Benjamin, C., & Middleton, A. (2018). The global landscape of nursing and genomics. Journal of Nursing Scholarship, 3), 249 256 https://doi.org/10.1111/jnu.12380
  • Coulson J. (2022). ‘Understanding the role of genomics in nursing practice.’ Nursing standard (Royal College of Nursing (Great Britain) Britain), 10.7748/ns.2022.e12053. Advance online publication. https://doi.org/10.7748/ns.2022.e12053
  • Cuthill, V. (2023), ‘Demystifying Genomics in Cancer Care’, Macmillan Cancer Support. Available at: demystifying genomics in cancer care
  • Hanson, H., Kulkarni, A., Loong, L., Kavanaugh, G. et al. (2022) ‘UK consensus recommendations of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.’ Journal of Medical Genetics, BMJ. 0: 1 13. doi: https://doi.org/10.1136/jmg-2022-108898
  • Launer , J. (2021) ’Effective Clinical Conversations: The Art of Curiosity’ Postgrad Med J, 97, pp 339 340. DOI: Effective clinical conversations: the art of curiosity
  • NHS England, (2022) ‘Accelerating genomic medicine in the NHS’, NHS England. Available at: accelerating genomic medicine in the NHS
  • Patch, C. & Middleton, A. (2018) ‘Genetic counselling in the era of genomic medicine’, British Medical Bulletin, 126(1), 27–36. DOI: https://doi.org/10.1093/bmb/ldy008
  • Pichini , A & Bishop, M. (2022) ‘A nationally agreed cross professional competency framework to facilitate genomic testing’ Genetics in Medicine. 24(8), 1743 1752. DOI: https://doi.org/10.1016/j.gim.2022.04.023.

Breast

  • Roberts, E., Howell, S., Evans, G. (2023) ‘Polygenic risk scores and breast cancer risk prediction.’ The Breast, 67, 71-77 DOI: https://doi.org/10.1016/j.breast.2023.01.003
  • Yang, Xin et al. “Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.” Journal of clinical oncology: official journal of the American Society of Clinical Oncology vol. 38,7 (2020): 674 685. DOI:10.1200/JCO.19.01907.

Colorectal

  • Chen L, Ye L, Hu B. 'Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine'. Biomedicines. 2022 Dec 10;10(12):3207. DOI: 10.3390/biomedicines10123207. PMID: 36551963; PMCID: PMC9776295.

Gynae

  • Crosbie, E., et al (2019) 'The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome.' Genet Med. 2019 Oct;21(10):2390-2400. DOI: 10.1038/s41436-019-0489-y
  • Ryan, NAJ., et al (2019) ‘The proportion of endometrial cancers associated with Lynch Syndrome: a systematic review of the literature and meta analysis.’ Genetics in Medicine. 21 (10), 2167 2180. DOI: https://doi.org/10.1038/s41436-019-0536-8
  • Sobocan, M., Chandrasekaran, D., Sideris, M. et al. (2023) “Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study” British Journal of Obstetrics and Gynaecology , 00:1 10. Accessible at: DOI: 10.1111/1471 0528.17675
  • Yang, Xin et al. “Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.” Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. 38,7 (2020): 674 685. DOI:10.1200/JCO.19.01907.

Lung

Lynch syndrome

  • Georgiou, D., Monje-Garcia, L., Miles, T., Monahan, K., Ryan, N. (2023) ‘A Focused Clinical Review of Lynch Syndrome’, Cancer Management and Research, 15 (67-85), DOI: 10.2147/CMAR.S283668.

More about our genomics toolkits

Our Macmillan Genomics Toolkits are designed to guide healthcare professionals on genomics in different cancer types. Find out more about the toolkits:

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