CPI: Generation Study: sample, sequence and interpret

The competencies required for the sample, sequence and interpret component of the Generation Study

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 sample, sequence and interpret component of the clinical pathway. 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

Process sample

Competencies

A. Processes the newborn’s blood sample according to study protocols.

External providers or internal Genomics England teams carry out sample processing for the Generation Study. Therefore, there are no competencies required for this step in the pathway.

Workforce groups

External providers or internal Genomics England teams

STEP 2

Sequence sample

Competencies

A. Sequences the newborn’s DNA sample according to study protocols.

External providers or internal Genomics England teams carry out sample sequencing for the Generation Study. Therefore, there are no competencies required for this step in the pathway.

Workforce groups

External providers or internal Genomics England teams

STEP 3

Analyse and interpret sequence data

Competencies

A. Describes how the study’s approach to choosing conditions and variant prioritisation informs the process for generating results. (P, K)

Associated resources:

Genomics England:
- Conditions list
- Conditions we test for
- Dr David Bick Introduction (future.nhs) (video, 1 minute)
- How we choose conditions
- Online Engagement Session for Health Professionals (future.nhs) (video, 47 minutes)
- Generation Study: Genome Analysis Guide
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)
- Generation Study: Results training deck (future.nhs)

Participant resources:

Genomics England:
- Conditions we test for
- How we choose conditions
- Newborn Genomes Programme: Our 4 principles (video, 5 minutes)
- Generation Study: Participant Information Sheet (future.nhs)
- Generation Study: Protocol (future.nhs)

B. Demonstrates the ability to use the systems supporting variant review in the study. (St, S)

Associated resources:

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

Participant resources:

Genomics England:
- Generation Study: Conditions List (future.nhs)
- Generation Study: Genetic Confirmation Guidance (future.nhs)

C. Applies knowledge to the variant review, interpretation and reporting process in the context of the study. (St, S)

Associated resources:

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

Participant resources:

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

D. Recognises potential special cases and uncommon scenarios (so-called ‘unhappy paths’) that can arise in the course of the study and how this can impact results. (St, S)

Associated resources:

Genomics England: Generation Study: Genome Analysis Guide

Workforce groups

Principal Investigator (doctor, nurse or midwife), research midwives and other research team members at study site, clinical midwife, community midwife, other antenatal staff (sonographer, obstetrician, midwifery support worker, fetal medicine specialist), research co-ordinator/assistant

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)

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. Demonstrates familiarity with national and local requirements on human tissue samples. (St, K)

Associated resources and participant resources:

Genomics England: Generation Study: Protocol (future.nhs)

K. Can explain the sequencing and interpretation process to generate results. (St, S)

Associated resources and participant 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)

Workforce groups

All roles and professions

CPI: Generation Study: sample, sequence and interpret

The competencies required for the sample, sequence and interpret component of the Generation Study

Key

STEP 1

Process sample

Competencies

Workforce groups

STEP 2

Sequence sample

Competencies

Workforce groups

STEP 3

Analyse and interpret sequence data

Competencies

Associated resources:

Participant resources:

Associated resources:

Participant resources:

Associated resources:

Participant resources:

Associated resources:

Workforce groups

All steps

Fundamental principles relevant to all pathway steps

Competencies

Associated learning:

Participant resources:

Associated learning:

Participant resources:

Associated learning:

Participant resources:

Associated learning:

Associated learning:

Participant resources:

Associated learning:

Participant resources:

Associated learning:

Associated learning:

Participant resources:

Associated learning:

Participant resources:

Associated resources and participant resources:

Associated resources and participant resources

Workforce groups

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