CPI: Lynch syndrome: post-test: variant of uncertain significance found

The competencies required to deliver the post-test aspects of the Lynch syndrome clinical pathway when a variant of uncertain significance has been found

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:

Pre-test
Post-test: causative variant found
Post-test: no causative variant found
Post-test: variant of uncertain significance found

This page focuses on the post-test component of the clinical pathway where a variant of uncertain significance has been found. 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

Interpret germline test report as ‘variant of uncertain significance’

Competencies

A. Ensures that the patient report matches the correct patient with at least three correct patient identifiers. (St, S)

Associated learning:

Clinical Sequencing Exploratory Research: Guide to Interpreting Genomic Reports (document)

B. Ensures that the genomic report is the most recent and correct/expected for the test that was requested. (St, S)

Associated learning:

Clinical Sequencing Exploratory Research: Guide to Interpreting Genomic Reports (document)

C. Determines whether any genomic variant has been identified, its classification as outlined in the laboratory report and any implications for the patient. (St, S)

Associated learning:

Clinical Sequencing Exploratory Research: Guide to Interpreting Genomic Reports (document)

D. Is able to liaise with other professionals (such as MDT, clinical genetics, GLH) regarding any queries relating to the result (St, S)

Associated learning:

Genomic Education Programme: Let’s Talk About… Variants of Uncertain Significance (video)

E. Understands the implications of a ‘variant of uncertain significance (VUS)’, including the difference between a ‘hot’ or ‘cold’ VUS. (St, K)

Associated learning:

Genomic Education Programme: Let’s Talk About… Variants of Uncertain Significance (video)

Workforce groups

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

STEP 2

Inform patient/next-of-kin of patient’s result

Competencies

A. Arranges feedback of the result to the patient, ensuring appropriate setting and allocated time. (St, S)

Associated learning:

Genomics Education Programme: Genomics 101: Talking Genomics (online course)

B. Uses effective and appropriate genomic communication skills to communicate the result of the genomic test. (St, S)

Associated learning:

Genomic Education Programme: Let’s Talk About… Communication Strategies (video)

C. Can explain that variation in the genome is common, but not all are disease-causing, along with the uncertain significance of the variant detected. (St, S)

Associated learning:

Genomics Education Programme: Genomics 101: Talking Genomics (online course)
Genomics Education Programme: Let’s Talk About…Variants of Uncertain Significance (video)

D. Informs the patient/next-of-kin that variant reclassification can occur. (St, S)

Associated learning:

Genomics Education Programme: Genomics 101: Talking Genomics (online course)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 6 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 6 (online course)

E. Obtains any new information learned about the patient’s phenotype and/or family history that may inform the future management plan. (St, S)

Associated learning:

Genomics Education Programme: Genomics 101: Talking Genomics (online course)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 6 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 6 (online course)

F. Outlines implications for any current or future clinical management if relevant. (St, S)

RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 6 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 6 (online course)

G. Is prepared to respond to patient’s queries, or facilitate referral or signposting to alternative source of information (such as colleague, patient resource, support group). (St, S)

Associated learning:

Bowel Cancer UK (charity website)
The Eve Appeal (charity website)
Genomics Education Programme: Let’s Talk About… Communication Strategies (video)
Macmillan Cancer Support: Types of womb cancer (patient information)

Workforce groups

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

STEP 3

Inform patient/next-of-kin of family implications

Competencies

A. Describes potential clinical screening options for family members (based on clinical presentation in family). (St, S)

Associated learning:

RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 6 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 6 (online course)

B. Conveys the importance of the patient and family notifying relevant healthcare professionals of any change to their medical or family history, as this may have an impact on their future care or screening. (St, S)

Genomics Education Programme: Let’s Talk About… Communication Strategies (video)
RM Partners: Lynch Syndrome (colorectal cancer) online training for MDTs: Option 2 – video 6 (online course)
RM Partners: Lynch Syndrome (endometrial cancer) online training for MDTs: Option 2 – video 6 (online course)

C. Responds to queries or facilitates referral or signposting to alternative source of information (such as colleague, patient resource, support group). (St, S)

Associated learning

Bowel Cancer UK (charity website)
The Eve Appeal (charity website)
Genomics Education Programme: Let’s Talk About… Communication Strategies (video)
Macmillan Cancer Support: Types of womb cancer (patient information)

Workforce groups

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

STEP 4

Management plan

Competencies

A. Ensures the result is documented appropriately as per national and local processes, and communicated to other healthcare professionals who would benefit from knowing the result. (St, S)

Associated learning:

British Gynaecological Cancer Society: Uterine Cancer Guidelines (document)
NICE: NG151 Colorectal cancer (guidance)

B. Acts on national and local clinical guidelines for cancer management plan, and facilitates onward referrals to other specialists in accordance with any MDT discussion. (St, S)

Associated learning:

British Gynaecological Cancer Society: Uterine Cancer Guidelines (document)
NICE: NG151 Colorectal cancer (guidance)

C. Follows local processes for referring eligible patients to clinical genetics services. (St, S)

Associated learning:

British Gynaecological Cancer Society: Uterine Cancer Guidelines (document)
NICE: NG151 Colorectal cancer (guidance)

D. Communicates a clear plan to the patient/next-of-kin for follow-up, including the time frame (specific or open-ended), mechanism (such as telephone or face to face), and appropriate contact information for any queries. (St, S)

Associated learning:

Genomics Education Programme: Let’s Talk About… Communication Strategies (video)

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 all 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: Lynch syndrome – resources for patients (GeNotes)

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: post-test: variant of uncertain significance found

The competencies required to deliver the post-test aspects of the Lynch syndrome clinical pathway when a variant of uncertain significance has been found

Key

STEP 1

Interpret germline test report as ‘variant of uncertain significance’

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 2

Inform patient/next-of-kin of patient’s result

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

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Workforce groups

STEP 3

Inform patient/next-of-kin of family implications

Competencies

Associated learning:

Associated learning

Workforce groups

STEP 4

Management plan

Competencies

Associated learning:

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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