CPI: Generation Study: return results and further care

The competencies required to receive and convey Generation Study results to participants and provide appropriate follow-on care

The Generation Study will sequence the genomes of 100,000 newborns to look for a specific set of rare genetic conditions that affect babies and can be acted on. It is being led by Genomics England and delivered by the NHS.

The Generation Study-supporting pathway, developed via the Clinical Pathway Initiative (CPI), has been broken down into three components:

recruit, enrol and sample;
sample, sequence and interpret; and
return results and further care.

This page focuses on the return results and further care component of the clinical pathway, which is about returning results to and providing appropriate clinical care to study participants. It describes the competencies that are required to deliver each step within the pathway and provides 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 associated learning and participant resources.

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. This framework has been designed to be a developmental tool to support staff involved in the Generation Study. It is not intended as a grading or assessment tool.

There are different routes to competence; we have provided a range of resources to support staff, but it is up to sites and principal investigators to ensure relevant staff receive appropriate training. Individual competencies should be interpreted in the context in which a healthcare professional is involved in delivering the study and considering their scope of practice.

Who developed this CPI?

This CPI pathway was developed, in collaboration with NHS England’s Genomics Education Programme, by Genomics England’s Newborns team and Newborn Genomics Programme education and training working group. Feedback is very welcome, please get in touch.

Content access requests

Some of the additional information and associated learning are hosted on the Generation Study workspace on the FutureNHS platform. If you have not already had an invitation to join, please contact the Genomics England service desk.

Content may evolve over time. We will endeavour to keep links up to date. Should you have any issues accessing the content, let us know.

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

Issue result referral pack

Competencies

A. Issues the result referral pack according to study protocols.

An internal Genomics England team creates the results referral pack, which is disseminated to the clinician by their regional results co-ordinator. Therefore, there are no competencies required for this step in the pathway.

Workforce groups

Internal Genomics England teams

STEP 2

Condition suspected: Review result referral pack

Competencies

A. Interprets the genomic test result, including the implications for both the newborn’s future health and the wider family. (St, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Confirmatory testing pathways (future.nhs)
- Generation Study: Results training deck (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)
- Generation Study: Results and referral pack (future.nhs)
- Generation Study: Results follow-up email to parent (future.nhs)

B. Enacts next steps accordingly, such as when there is a clinical urgency due to the natural history of the suspected condition. (St, K, S)

Associated learning:

Genomics England:
- Generation Study: Confirmatory testing pathways (future.nhs)
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Generation Study: Results training deck (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

C. Recognises the limitations and uncertainties of the result in a research and screening context – including penetrance and expressivity. (St, K)

Associated learning:

Genomics England:
- Generation Study: Results training deck (future.nhs)
- Generation Study: Using genetics as a screening tool (future.nhs)
NHS England’s Genomics Education Programme:
- GeNotes: Expressivity
- GeNotes: Penetrance

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Genome Analysis Guide
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

Workforce groups

Treating clinician/specialist, research co-ordinator/assistant

STEP 3

Establish patient care pathway

Competencies

A. Contacts the specialist team responsible for managing the condition. (St, S)

Associated learning:

Genomics England:
- Generation Study: Confirmatory testing pathways (future.nhs)
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Referral recommendations and HSS referrals (future.nhs)

Associated learning and participant facing resources:

Genomics England: Generation Study: Participant Information Sheet (future.nhs)

B. Instigates the next steps for testing and treatment based on clinical urgency of the suspected condition. (St, S)

Associated learning:

Genomics England: Generation Study: Confirmatory testing pathways (future.nhs)

Associated learning and participant facing resources:

Genomics England: Generation Study: Participant Information Sheet (future.nhs)

C. Collaborates with specialist clinical and laboratory teams by requesting, attending or documenting multidisciplinary review meetings as appropriate. (St, S)

Associated learning:

Genomics England: Generation Study: Confirmatory testing pathways (future.nhs)

D. Creates a shared understanding within the clinical team of the condition, management, prognosis and resources available. (St, S)

Associated learning:

Genomics England: Generation Study: Confirmatory testing pathways (future.nhs)

Workforce groups

Treating clinician/specialist, regional results co-ordinator, research co-ordinator/assistant

STEP 4

Convey the result and follow up plan to parents

Competencies

A. Communicates the result in a sensitive and accessible manner. (St, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Returning Results: The Process (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

B. Outlines further genomic testing and/or clinical investigations that may be needed to confirm the condition is present. (St, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Confirmatory testing pathways (future.nhs)
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Returning Results: The Process (future.nhs)

Associated learning and participant facing resources:

Genomics England: Generation Study: Participant Information Sheet (future.nhs)

C. Communicates a clear plan for follow-up, including the time frame, mechanism and appropriate contact information for any queries. (St, S)

Workforce groups

Treating clinician/specialist

STEP 5

Arrange further testing

Competencies

A. Facilitates further tests to clarify the ‘condition suspected’ result, which may include genetic, biochemical and/or imaging tests for the newborn and their parents. (St, S)

Associated learning:

Genomics England:
- Generation Study: Confirmatory testing pathways (future.nhs)
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Returning Results: The Process (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

B. Interprets the implications, uncertainties and limitations of these further tests results for clinical care. (St, K, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Confirmatory testing pathways (future.nhs)

Participant resources:

Genomics England: Generation Study: Results follow-up email to parent (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

C. Communicates the implications, uncertainties and limitations of these further tests results for clinical care. (St, K, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Confirmatory testing pathways (future.nhs)

Participant resources:

Genomics England:
- Generation Study: Results follow-up email to parent (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

D. Communicates with laboratory colleagues to expedite testing where relevant. (St, S)

Associated learning:

Genomics England: Generation Study: Confirmatory testing pathways (future.nhs)

Workforce groups

Treating clinician/specialist, regional results co-ordinator, research co-ordinator/assistant

STEP 6

Positive result confirmed: Provide appropriate clinical care

Competencies

A. Communicates a clear plan for follow-up, including the time frame, mechanism and appropriate contact information for any queries. (St, S)

Participant resources:

Genomics England: Results follow-up email to parent (future.nhs)

B. Recognises when input from and/or referral to other specialties is required. (St, K, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Confirmatory testing pathways (future.nhs)

C. Outlines any implications for current or future clinical management, including the potential advantages and disadvantages of different options, taking into account the fact that the newborn may be asymptomatic. (St, S)

Associated learning:

Genomics England: Generation Study: Condition Information Sheet template (future.nhs)

Participant resources:

Genomics England: Results follow-up email to parent (future.nhs)

D. Recognises where further support is needed with regard to the family members’ reactions, expectations, concerns and coping in light of the genomic result. (St, K)

Associated learning:

Genomics England: Generation Study: Protocol (future.nhs)
Genomics England: Generation Study: Returning Results: The Process (future.nhs)
Genomics England: Generation Study: Condition Information Sheet template (future.nhs)

Participant resources:

Genomics England: Generation Study: Study information following a condition-suspected result (future.nhs)

Workforce groups

Treating clinician/specialist, research co-ordinator/assistant

STEP 7

False-positive results confirmed

Competencies

A. Explains the implications of a false-positive outcome to the family. (St, S)

Associated learning:

Genomics England:
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Generation Study: Key Terms and scientific principles (future.nhs)
- Study Guide for Recruiting Sites (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Genetic Confirmation Guidance (future.nhs)
- Generation Study: Genome Analysis Guide
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

B. Demonstrates that the family have received adequate support and explanation, before discharging from clinical care. (St, S)

Associated learning and participant resources:

Genomics England: Generation Study: Condition Information Sheet template (future.nhs)

Workforce groups

Regional results co-ordinator, specialist paediatric consultant, other paediatric multidisciplinary team members (clinical nurse specialist, clinical geneticist, allied health professional, clinical psychologist), genetic counsellor

STEP 8

Close the loop

Competencies

A. Utilises mechanisms for feeding back outcomes and issues in order to support the evaluation of the study. (St, S)

Associated learning and participant resources:

Genomics England: Generation Study: Participant Information Sheet (future.nhs)

Workforce groups

Treating clinician/specialist, regional results co-ordinator, research co-ordinator/assistant, principal investigator (doctor, nurse or midwife), research midwives and research team members at the study site, clinical midwife, community midwife, the wider antenatal team

All steps

Fundamental principles relevant to all pathway steps

Competencies

A. Recognises potential equality, diversity and inclusion-related barriers to participation. (G, K)

Associated learning:

Genomics England:
- Generation Study: Genomic Consent Webinar (future.nhs) (video, 2 hours)
- Generation Study: Informed Choice Scenario Cards (future.nhs)
- Generation Study: Recruiting Site Full Training Slide Set (future.nhs)
National Institute for Health and Care Research: Equality, Diversity and Inclusion Strategy 2022-2027

Participant resources:

Genomics England:
- Generation Study (with Google Translate for target language translation)
- Generation Study: Translated participant information

B. Demonstrates how to overcome potential quality, diversity and inclusion-related barriers to participation. (G, S)

Associated learning:

Genomics England:
- Generation Study: Genomic Consent Webinar (future.nhs) (video, 2 hours)
- Generation Study: Informed Choice Scenario Cards (future.nhs)
- Generation Study: Recruiting Site Full Training Slide Set (future.nhs)
National Institute for Health and Care Research: Equality, Diversity and Inclusion Strategy 2022-2027

Participant resources:

Genomics England:
- Generation Study (with Google Translate for target language translation)
- Generation Study: Translated participant information

C. Employs effective communication skills to support participant choice without coercion or bias. (G, S)

Associated learning:

Genomics England:
- Generation Study: Consent Conversation Checklist (future.nhs)
- Generation Study: Genomic Consent Webinar (future.nhs) (video, 2 hours)
- Generation Study: Informed Choice Scenario Cards (future.nhs)
- Generation Study: Recruiting Site Full Training Slide Set (future.nhs)
National Institute for Health and Care Research: Good Clinical Practice (courses)

Participant resources:

Genomics England:
- Generation Study (with Google Translate for target language translation)
- Generation Study: Protocol (future.nhs)
- Generation Study: Participant Information Sheet (future.nhs)
- Participating Facing Materials for Recruiting Sites (future.nhs) (such as a poster, leaflet and participant information sheet)

D. Recognises when to initiate onward referrals to other specialists or regional clinical genomics service, such as based on the medical or family history. (G, S)

Associated learning:

Genomics England:
- Confirmatory testing pathways (future.nhs)
- Generation Study: Online engagement session for health professionals (future.nhs) (video, 47 minutes)
- Generation Study: Recruiting Site Full Training Slide Set (future.nhs)
- Generation Study: Study Guide for Recruiting Sites (future.nhs)
National Institute for Health and Care Research: Good Clinical Practice (courses)

E. Provides information in a language, format and level to facilitate participant understanding. (G, S)

Associated learning:

Genomics England: Generation Study: Recruiting Site Full Training Slide Set (future.nhs)

Participant resources:

Genomics England:
- Captioned participant videos (future.nhs)
- Generation Study (with Google Translate for target language translation)
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)
- Generation Study: Translated participant information

F. Demonstrates how to support different decision-making styles of participants. (G, S)

Associated learning:

Genomics England:
- Generation Study: Consent Conversation Checklist (future.nhs)
- Generation Study: Genomic Consent Webinar (future.nhs) (video, 2 hours)
- Generation Study: Informed Choice Scenario Cards (future.nhs)

Participant resources:

Genomics England:
- Generation Study (with Google Translate for target language translation)
- Generation Study: Participant facing videos (1 to 2 minutes participation videos) (nhs)
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)
- Generation Study: Translated participant information

G. Documents patient interactions appropriately, as per local and national processes. (G, S)

Associated learning:

Genomics England:
- Generation Study: Portal Self Study Guide (future.nhs)
- Generation Study: Recruiting Site Full Training Slide Set (future.nhs)
- Generation Study: Screening, Recruitment, Tracking log (future.nhs)
- Generation Study: Study Guide for Recruiting Sites (future.nhs)

H. Recognises scope of practice, professional responsibilities and professional boundaries, seeking further assistance where relevant. (G, S)

Associated learning:

Genomics England:
- Generation Study: Conditions List (future.nhs)
- Generation Study: Online engagement session for health professionals (future.nhs) (video, 47 minutes)
- Generation Study: Protocol (future.nhs)
- Generation Study: Recruiting Site Full Training Slide Set (future.nhs)
- Generation Study: Results training deck (future.nhs)

Participant resources:

Genomics England: Generation Study: Participant Information Sheet (future.nhs)

I. Identifies the factors that may influence an individual’s response to their result, including (but not limited to) their physical and mental health and wellbeing, cultural, religious, familial and personal values. (G, K)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheets (future.nhs)
- Generation Study: Confirmatory testing pathways (future.nhs)
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)
- Generation Study: Result follow-up email to parent (future.nhs)
- Generation Study: Results and referral pack (future.nhs)
- Generation Study: Results training deck (future.nhs)

Participant resources:

Genomics England:
- Generation Study: Condition Information Sheets (future.nhs)
- Generation Study: Protocol (future.nhs)
- Generation Study: Result follow-up email to parent (future.nhs)
- Generation Study: Results and referral pack (future.nhs)
- Participant Information sheet (PDF, 20 pages)

J. Facilitates the continuation of standard clinical care pathways throughout the course of research. (G, S)

Associated learning:

Genomics England:
- Generation Study: Guide to returning condition suspected results (future.nhs)
- Generation Study: Results training deck (future.nhs)

Participant resources:

Genomics England: Generation Study: No conditions suspected email (Parents) (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

K. Explains the potential familial implications of a result, including reproductive options, clinical management and genomic testing implications. (G, S)

Associated learning:

Genomics England:
- Generation Study: Returning Results: The Process (future.nhs)
- Generation Study: No conditions suspected email (GP) (future.nhs)

Participant resources:

Genomics England: Generation Study: No conditions suspected email (Parents) (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Protocol (future.nhs)
- Generation Study: Participant Information Sheet (future.nhs)

L. Demonstrates knowledge of general genetic and genomic concepts in relation to the scope of the test. (G, K)

Associated learning:

Genomics England:
- Generation Study: Key Terms and scientific principles (nhs)
- Generation Study: Overview (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Training deck (future.nhs)
NHS England’s Genomics Education Programme:
NHS England’s e-Learning for Healthcare: Genomics 101 – Genes to Genome (course)

Participant resources:

Genomics England: Condition Information Sheets (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

M. Has awareness of relevant resources for signposting. (G, K)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Overview (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Training deck (future.nhs)

Participant resources:

Genomics England:
- Generation Study: No conditions suspected email (Parents) (future.nhs)
- Generation Study: Results follow-up email to parent (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Conditions we test for
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

N. Recognises that only select gene changes have been analysed in this test, and results do not exclude other conditions affecting a baby’s health. (P, K)

Associated learning:

Genomics England:
- Generation Study: Genetic Confirmation Guidance (future.nhs)
- Generation Study: Genome Analysis Guide
- Generation Study: No conditions suspected email (GP) (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Using genetics as a screening tool (future.nhs)

Participant resources:

Genomics England:
- Generation Study: Genetic Confirmation Guidance (future.nhs)
- Generation Study: Genome Analysis Guide
- Generation Study: No conditions suspected email (Parents) (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

O. Recognises the ongoing implications of data and sample storage for further research. (G, K)

Associated learning:

Genomics England:
- Generation Study: Overview (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Sampling Guide for recruiting sites (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

P. Recognises the potential for additional research initiatives that may be relevant to a participant based on their result. (G, K)

Associated learning:

Genomics England:
- Generation Study: Results training deck (future.nhs)
- Generation Study: Returning Results: The Process (future.nhs)

Associated learning and participant facing resources:

Genomics England: Generation Study: Participant Information Sheet (future.nhs)

Q. Has awareness of how the sequencing and interpretation process generates results. (G, K)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Conditions List (future.nhs)
- Generation Study: Genetic Confirmation Guidance (future.nhs)
- Generation Study: Genome Analysis Guide
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

R. Employs appropriate communication skills to support families with the immediate and longer-term psychosocial impacts of a genomic result. (G, S)

Associated learning:

Genomics England:
- Generation Study: Condition Information Sheet template (future.nhs)
- Generation Study: Guide to returning condition-suspected results (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Returning Results: The Process (future.nhs)

Participant resources:

Genomics England:
- Generation Study: Results follow-up email to parent (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

S. Can distinguish differences between this research study and related programmes, such as the standard NHS Screening Programme or other evaluation programmes. (G, K)

Associated learning:

Genomics England:
- Generation Study: Overview (future.nhs)
- Generation Study: Results training deck (future.nhs)
- Generation Study: Returning Results: The Process (future.nhs)

Associated learning and participant facing resources:

Genomics England:
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

Workforce groups

All roles and professions