CPI: Lynch syndrome: pre-test

The competencies required to deliver the pre-test aspects of the Lynch syndrome clinical pathway in a mainstream clinical setting

Lynch syndrome is an autosomal dominant hereditary cancer syndrome. It arises from a pathogenic constitutional (germline) variant in one of the genes associated with DNA mismatch repair (MMR).

Individuals with Lynch syndrome have a 40%–80% lifetime risk of developing colorectal, endometrial and other cancers. Cancers associated with Lynch syndrome are typically MMR deficient and/or demonstrate microsatellite instability.

The Lynch syndrome Clinical Pathway Initiative (CPI) project has been broken down into four components:

This page focuses on the pre-test component of the clinical pathway. It describes the competencies that are required to deliver each step within this part of the pathway and provides links to supporting information and education.

How to use this page

The pathway is broken down into key steps, numbered below. Each step has associated competencies, each listed within a blue box, that a healthcare professional should have to be able to deliver that step. Clicking a blue box will expand the competency to provide additional information, associated learning and supporting digital solutions.

You can use this pathway to plan service delivery, identify and address workforce training needs, or to assess and develop your own knowledge and skills.

Who developed this CPI project?

The South East NHS Genomic Medicine Service Alliance (GMSA), working with North Thames GMSA, was funded to lead on the education and training component of the Lynch syndrome transformation project. As part of that, the following people contributed to the development of this CPI project:

Nicola Husain, education and training Lead, South East GMSA
Dr Kevin Monahan, consultant gastroenterologist and co-director of the St Mark’s Centre for Familial Intestinal Cancer, St Mark’s Hospital and Academic Institute, London
Laura Monje-Garcia, national lead nurse for the Lynch syndrome transformation project, North Thames GMSA
Dr Adam Shaw, consultant clinical geneticist, clinical genetics, Guy’s and St Thomas’ NHS Foundation Trust

Additional support and thanks

South East and North Thames GMSAs’ Lynch syndrome Transformation Project Steering Groups
South West GMSA Lynch syndrome nursing leads

Key

We have identified the type of competency in each of the drop-down boxes below:

G: General competency
P: Pathway-specific competency
St: Step-specific competency
K: Knowledge
S: Skills
A: Attitudes

STEP 1

Determine patient eligibility for germline testing

Competencies

A. Demonstrates up-to-date knowledge of cancers associated with Lynch syndrome for which genomic testing may be offered (P, K)

Associated learning:

Genomics Education Programme: GeNotes: Lynch syndrome
Genomics Education Programme: How is genomics used in cancer care? (video, 1 minute)
NHS England: Implementing Lynch syndrome testing and surveillance pathways (document)

B. Interprets results of colorectal/endometrial MMR tumour testing to determine eligibility for constitutional (germline) testing (P, S)

Associated learning:

Genomics Education Programme: A Clinician’s Guide to Genomic Testing for Cancer (Solid Tumours) (online course)
Genomics Education Programme: Colorectal cancer (GeNotes)
Genomics Education Programme: Constitutional (germline) vs somatic (tumour) variants (GeNotes)
Genomics Education Programme: Lynch syndrome (GeNotes)
Genomics Education Programme: Mismatch repair deficiency and microsatellite instability (GeNotes)

C. Obtains and documents an accurate family history. (St, S)

Associated learning:

Genomics Education Programme: Genomics 101: Taking and Drawing a Genetic Family History (online course)
Genomics Education Programme: Oncology: Inherited risk explainer (video, 4 minutes)
Genomics Education Programme: Taking a Genetic Family History: The Conversation (Bowel Cancer) (video, 7 minutes)

D. Understands how to use the most up-to-date National Genomic Test Directory and uses it to determine patient eligibility for genetic testing for Lynch syndrome. (St, S)

Associated learning:

Genomics Education Programme: GeNotes: Presentation: Patient with metastatic colorectal cancer
NICE: DG27 Molecular testing strategies for Lynch syndrome in people with colorectal cancer (guidance)
NICE: DG42 Testing strategies for Lynch syndrome in people with endometrial cancer (guidance)
NHS England: National Genomic Test Directory (documents)
NHS England: Implementing Lynch syndrome testing and surveillance pathways (document)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – videos 1,2,3 and 4 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – videos 1,2,3 and 4 (online course)

Workforce groups

Secondary care clinician from one of the following specialties: clinical genetics; oncology; colorectal / gynaecological surgery; gastroenterology

STEP 2

Provide information on testing

Competencies

A. Elicits patient’s understanding, expectations and concerns about genetic testing and addresses these appropriately. (G, S)

Associated learning:

Genomics Education Programme: Facilitating Genomic Medicine: Introduction to Offering Genomic Tests (online course)
Genomics Education Programme: Genomics 101: Talking Genomics (online course)
Genomics Education Programme: Let’s Talk About… Genomic Testing (video series)
Genomics Education Programme: The different types of genomic test results (infographic)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 5 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 5 (online course)
Royal College of Physicians: Consent and confidentiality in genomic medicine (article)

B. Utilises communication skills to discuss complex genomic and Lynch syndrome-related information at a level appropriate for the patient. (P, S)

Associated learning:

Genomics Education Programme: Facilitating Genomic Testing: Discussing Diagnostic Germline Genomic Tests (online course)
Genomics Education Programme: Let’s Talk About… Communication Strategies (video, 3 minutes)

C. Understands the potential benefits and outcomes of testing for the patient, as well as potential implications for their family members, and conveys these effectively to the patient. (P, S)

Associated learning:

Genomics Education Programme: Finding a genomic cause: the clinician’s role (webpage)
Genomics Education Programme: Let’s Talk About… Genomic Testing (video series)
Genomics Education Programme: The different types of genomic test results (infographic)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 5 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 5 (online course)

D. Appreciates and respects patient’s decisions and the potential reasons behind them, and is able to support the patient in a non-judgemental manner. (St, A)

Associated learning:

Genetic Alliance UK: Benefits and risks of genetic testing (webpage)
Genomics Education Programme: Counselling the code: genomic testing and insurance (article)
Genomics Education Programme: The different types of genomic test results (infographic)
Royal College of Physicians: Consent and confidentiality in genomic medicine (article)

Workforce groups

Secondary care clinician from one of the following specialties: clinical genetics; oncology; colorectal / gynaecological surgery; gastroenterology

STEP 3

Seek consent for testing

Competencies

A. Understands the ethical, legal and insurance implications of genomic testing. (St, K)

Associated learning:

Genomics Education Programme: Counselling the code: genomic testing and insurance (article)
Royal College of Physicians: Consent and confidentiality in genomic medicine (article)

B. Obtains patient consent in an individualised and non-coercive manner, with an appreciation of relevant professional guidance and legislation. (St, S)

Associated learning:

Royal College of Physicians: Consent and confidentiality in genomic medicine (article)

C. Knows where to find the record of discussion form and how to complete it in line with national and local governance processes. (St, S)

Associated learning:

Genomics Education Programme: GeNotes: How to complete a record of discussion form

D. Communicates how and when patient will receive results. (St, S)

Associated learning:

Genomics Education Programme: Let’s Talk About… Communication strategies (video, 3 minutes)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 5 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 5 (online course)

Workforce groups

Secondary care clinician from one of the following specialties: clinical genetics; oncology; colorectal / gynaecological surgery; gastroenterology

STEP 4

Collection of sample, recording and requesting genomic testing

Competencies

A. Demonstrates where to find the test request form and how to complete it. (St, S)

Associated learning:

Refer to local your local GLH for guidance on how to order a test: Genomics Education Programme: GeNotes: Genomic Laboratory Hubs

B. Understands and can follow local governance processes for sample collection and transportation to regional Genomic Laboratory Hub. (St, S)

Associated learning:

Genomics Education Programme: GeNotes: Genomic Laboratory Hubs

C. Understands national and local requirements for human tissue samples. (St, K)

Associated learning:

Genomics Education Programme: Facilitating Genomic Medicine: Data and Sample Management in the NHS GMS (online course)
NHS England: National Genomic Test Directory (documents)

Workforce groups

Secondary care clinician from one of the following specialties: clinical genetics; oncology; colorectal / gynaecological surgery; gastroenterology

ALL STEPS

Fundamental principles relevant to all steps

Competencies

A. Understands the fundamental principles of genomics and inheritance patterns. (G, K)

Associated learning:

Genomics Education Programme: Genomics 101 collection (online courses)

B. Recognises and acts within professional/role-specific boundaries and competencies, and understands when to seek multidisciplinary support or when to refer to relevant specialists for further support. (G, A)

C. Knows how to access educational resources to support learning where relevant (such as Good Clinical Practice training and Genomics Education Programme courses). (G, S)

Associated learning:

Genomics Education Programme: Education collection (courses and videos)

D. Understands all relevant clinical pathways, including routes for accessing advice and support. Works collaboratively with colleagues and specialties when applying pathways and protocols. (G, K)

E. Demonstrates knowledge of avenues of patient support, including resources and onwards referral, and communicates these to patients. Identifies when patients need additional support from another healthcare professional. (G, K)

Associated learning:

Genomics Education Programme: GeNotes: Lynch syndrome (see ‘resources for patients’)

F. Applies the communication and counselling skills needed to engage and communicate effectively in a compassionate manner with patients, carers and wider family. (G, S)

G. Understands the importance of, and demonstrates, appropriate and effective written documentation and correspondence with patients and other healthcare professionals. (G, S)

Workforce groups

Secondary care clinician from one of the following specialties: clinical genetics; oncology; colorectal / gynaecological surgery; gastroenterology

CPI: Lynch syndrome: pre-test

The competencies required to deliver the pre-test aspects of the Lynch syndrome clinical pathway in a mainstream clinical setting

Key

STEP 1

Determine patient eligibility for germline testing

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 2

Provide information on testing

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 3

Seek consent for testing

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 4

Collection of sample, recording and requesting genomic testing

Competencies

Associated learning:

Associated learning:

Associated learning:

Workforce groups

ALL STEPS

Fundamental principles relevant to all steps

Competencies

Associated learning:

Associated learning:

Associated learning:

Workforce groups

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