CPI: Sickle cell disease: preconception carrier screening

A method to identify workforce development and education needs to support sickle cell disease pathways across the NHS Genomic Medicine Service

Sickle cell disease (SCD) is a serious inherited blood disorder that affects haemoglobin, the molecule in red blood cells responsible for carrying oxygen. A person is considered a carrier, having sickle cell trait, when they inherit one altered copy of the gene. While carriers neither experience symptoms nor have the disease themselves, if both prospective parents are carriers, there is a 1-in-4 (25%) chance with each pregnancy that their child could inherit the condition.

Increasing awareness of genetic status empowers individuals to make informed decisions about family planning. The focus of this resource is not on the management of sickle cell itself, but on improving how people identified as carriers are supported over time.

The Clinical Pathway Initiative (CPI) provides a framework and resources to help healthcare professionals guide and inform discussions on genetics with individuals with sickle cell or the trait. The sickle cell pathways available are:

This is the Preconception carrier screening pathway. It may be used to inform best practice in early risk identification, appropriate counselling and coordination of care. 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.

This work sits within the Sickle Cell Genetic Counselling and Education Workstream under NHS England’s National Healthcare Inequalities Improvement Programme.

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.

You can use this pathway to plan service delivery, identify and address workforce training needs, or to assess and develop your own knowledge, skills and behaviours to deliver a high-quality and culturally sensitive standard of care.

Resources to understand the SCD pathway

Below are some recommended resources which you can use to familiarise yourself with the SCD pathway.

e-Learning for Healthcare: NHS Screening Programmes
Gov.uk:
- NHS sickle cell and thalassaemia (SCT) screening programme
- Sickle cell and thalassaemia counselling knowledge and skills
Healthtalk: Communicating results
NICE:
- Pre-conception – advice and management
- Scenario: Genetic risk assessment
NHS England:
- Antenatal and newborn screening: identifying and reducing inequalities
- Antenatal screening: special circumstances
- Information and choices for women and couples at risk of having a baby with sickle cell disease
- Newborn blood spot screening: movers in with no available records (‘mover in’ is a baby who moved to England from outside the UK)
- Sickle cell and thalassaemia screening: learning from incidents
NHS Pregnancy: Planning your pregnancy (see: ‘Testing for sickle cell and thalassaemia’.)
Office for Health Improvement and Disparities: NHS population screening: access for all
Sickle Cell and Thalassaemia Support Project
UK National Screening Committee: Sickle cell and thalassaemia (English) (video, 1 minute)
UK Newborn Screening Laboratory Network

References:

Oteng-Ntim E, Pavord S, Howard R and others. ‘Management of sickle cell disease in pregnancy. A British Society for Haematology Guideline’. British Journal of Haematology 2021: volume 194, issue 6, pages 980–995. DOI: 10.1111/bjh.17671

Who developed this CPI project?

An initial draft of this project was developed by London North West University Healthcare NHS Trust haematology and research fellow Dr Rossby Awadzi.

Dr Awadzi was funded by NHS England to provide direction to the SCD clinical pathways review steering group regarding genetics education and training for sickle cell. This work involved:

introducing a unified approach to the integration of genomic medicine across different specialties in the mainstream setting;
identifying the workforce development and education needs;
harnessing and sharing expertise from around the country; and
providing a ‘bite-sized’ clinically relevant approach to genomic medicine.

The initial draft of the CPI project was shared with NHS England’s genetic counselling working group for review. Pertinent recommendations were incorporated into a subsequent revision.

The revised CPI project was presented, for final review and approval, to NHS England’s Genomics Education Programme Clinical Director Professor Kate Tatton-Brown.

As a part of this process, the following people contributed to the development of this CPI project:

Dr Kofi A Anie, Consultant Psychologist, London North West University Healthcare NHS Trust;
Leanne Barrett, registered genetic counsellor and founder of Geneticlea;
Elizabeth Olukoga, Community Haemoglobinopathy Specialist Nurse, London North West University Healthcare NHS Trust; and
Colette Scrace, Clinical Nurse Lead, NHS England’s Genomics Unit.

Additional support and thanks

Mrs Patricia Alfonso-Brown, Specialist Sickle Cell Community Nurse, London Northwest University Healthcare NHS Trust
Miss Faleasha Pink, student midwife, Northampton University
Ms Paula Sullivan, Specialist Haemoglobinopathy Midwife, London Northwest University Healthcare NHS Trust
NHS England genetic counselling working group
NHS England’s Genomics Education Programme
NHS England’s National Sickle Cell Disorder Healthcare Improvement Programme

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

Identifying individuals for screening

Competencies

A. Offers carrier screening to individuals who are considering pregnancy, especially those from high-prevalence populations (such as those of African, Caribbean, Mediterranean, Middle Eastern or South Asian origin). (P, K)

Associated learning:

Gov.uk: Sickle cell and thalassaemia screening: family origin questionnaire
NHS Health A to Z: Carriers (sickle cell disease)

B. Communicates to individuals with a known carrier status to discuss screening with the other prospective biological parent, recognising that not all individuals will be able to have these conversations (such as those who will use donor sperm). (P, S)

Associated learning:

NHS England: Sickle cell and thalassaemia: screening handbook

C. Where donor gametes are being used, recognises that all gamete donors undergo haemoglobinopathy screening to identify carriers of sickle cell, beta-thalassaemia or other haemoglobin variants, in line with Human Fertilisation and Embryology Authority (HFEA) guidance. (P, K)

Associated learning:

legislation.gov.uk: Human Fertilisation and Embryology Act 2008

Workforce groups

GPs, sexual health doctors and practice nurses

STEP 2

Providing information on testing

Competencies

A. Explains the purpose of carrier screening in preconception care and its role in reproductive planning. (St, K)

Associated learning:

e-Learning for Healthcare: Sickle Cell and Thalassaemia Screening e-learning module

B. Describes the blood test procedure, its accuracy and the implications of a carrier-positive result. (St, K, S)

Associated learning:

e-Learning for Healthcare: Sickle Cell and Thalassaemia Screening e-learning module
NHS Health A to Z: Carriers (sickle cell disease)
NHS Pregnancy: Screening for sickle cell and thalassaemia

C. Discusses SCD inheritance patterns and the reproductive implications should both prospective biological parents be carriers, including the chance of passing SCD or other haemoglobinopathies to offspring. (G, K)

Associated learning:

e-Learning for Healthcare: Sickle Cell and Thalassaemia Screening e-learning module
Gov.uk: Sickle cell and thalassaemia screening: family origin questionnaire
NHS England’s Genomics Education Programme: GeNotes: Visual communication aid: Autosomal recessive inheritance
NHS Health A to Z: Carriers (sickle cell disease)

D. Clarifies that testing the other prospective biological parent is optional, but will help assess reproductive risks. (St, K)

Associated learning:

Core training typically obtained as part of the professional skill set
NHS Health A to Z: Carriers (sickle cell disease)

E. Provides information about support and genetic counselling services for individuals identified as carriers. (St, S)

Associated learning:

F. Signposts individuals or couples to relevant local or regional services for haemoglobinopathy testing where appropriate. (St, S)

Associated learning:

Please refer to local protocols and guidelines
Sickle Cell Society: Screening for sickle cell and thalassaemia

Workforce groups

Genetic counsellors, GPs, sexual health doctors and practice nurses

STEP 3

Consent and counselling before screening

Competencies

A. Obtains informed consent, ensuring the individual understands the voluntary nature of carrier screening. (St, S)

Associated learning:

General Medical Council: Decision making and consent
NHS England’s Genomics Education Programme: GeNotes: Consent conversation for genomic testing
NHS Health A to Z: Consent to treatment

B. Delivers culturally appropriate counselling that respects the individual’s values, beliefs and decision-making styles. (St, K, A)

Associated learning:

General Medical Council: Decision making and consent
Office for Health Improvement and Disparities: Culture, spirituality and religion: migrant health guide

C. Explains that the testing of the other prospective biological parent is voluntary; actively supports access to testing by addressing potential barriers and signposts to appropriate local or specialist services. (St, S)

Associated learning:

Please refer to local protocols and guidelines

Workforce groups

Genetic counsellors, GPs, sexual health doctors and practice nurses

STEP 4

Conducting the screening test

Competencies

A. Follows the local and national guidelines for sample collection and handling. (P, K)

Associated learning:

NHS England:
- Governance, quality assurance and accreditation
- Diagnostics: Recovery and Renewal – Report of the Independent Review of Diagnostic Services for NHS England
United Kingdom Accreditation Service (UKAS): Medical Laboratory Accreditation (ISO 15189)

B. Applies best practice to sample labelling, transport and delivery. (P, K)

Associated learning:

Department of Health and Social Care: SaBTO (Safety of Blood, Tissues and Organs) microbiological safety guidelines

C. Records both consent and the sample’s details in the individual’s medical records. (P, S)

Associated learning:

Health and Care Professions Council (HCPC): Standards of conduct, performance and ethics
NHS England: Records Management Code of Practice

D. Maintains confidentiality and data protection throughout the process. (St, S)

Associated learning:

Information Commissioner’s Office (ICO): UK GDPR guidance and resources
Health and Care Professions Council (HCPC): Standards of conduct, performance and ethics
NHS England: Records Management Code of Practice

Workforce groups

Practice nurses and GPs

STEP 5

Communicating results and next steps

Competencies

A. Communicates results promptly and sensitively in a private and supportive setting. (St, S)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
General Medical Council: Domain 2: Patients partnership and communication

B. If the individual is a carrier, offers screening to the other prospective biological parent and explains the next steps. (St, K)

Associated learning:

Please refer to local protocols and guidelines

C. If the prospective biological parents are both carriers, discusses reproductive options.

Associated learning:

Antenatal Results & Choices
e-Learning for Healthcare: About the NHS Screening programmes
NHS England: Information and choices for women and couples at risk of having a baby with sickle cell disease
NHS England’s Genomics Education Programme:
- Delivering results: the patient perspective
- Preimplantation genetic testing
NHS Pregnancy: Screening for sickle cell and thalassaemia

D. For confirmed carriers, provides psychological support and genetic counselling. (St, S, A)

Associated learning:

NHS Health A to Z: Genetic and genomic testing
patient.info: Genetic counselling

E. Ensures prospective biological parent(s) understand they are not obliged to pursue further testing. (St, K)

Associated learning:

Please refer to local protocols and guidelines
General Medical Council:
- Decision making and consent
- The seven principles of decision making and consent
National Institute for Health and Care Excellence: About shared decision making
NHS England: Involving people in their own care

Workforce groups

GPs and genetic counsellors

Step 6

Future pregnancies and planning

Competencies

A. For any future pregnancies, where the other prospective biological parent is new, recommends carrier screening for them. (St, K)

Associated learning:

e-Learning for Healthcare: About the NHS Screening programmes
Gov.uk: Sickle cell and thalassaemia screening: family origin questionnaire
NHS Health A to Z: Carriers (sickle cell disease)

B. Can explain the importance of updated screening to assess the risk of SCD or other haemoglobinopathies. (St, K)

Associated learning:

British Society for Haematology (BSH): Significant haemoglobinopathies: A guideline for screening and diagnosis
NHS England: Sickle cell and thalassaemia (SCT) screening: programme overview
NHS England’s Genomics Education Programme: GeNotes: Presentation: Pregnancy in which the mother is diagnosed with, or is a known carrier of, a haemoglobinopathy disease
Royal College of General Practitioners (RCGP) Learning: Genomics toolkit

C. Ensures the individual is aware of available options for pre- and postnatal testing. (St, K)

Associated learning:

NHS England:

D. Provides access to ongoing support and genetic counselling. (St, S)

Associated learning:

NHS Health A to Z: Genetic and genomic testing
patient.info: Genetic counselling

Workforce groups

GPs, genetic counsellors and midwives

STEP 7

Documentation and healthcare integration

Competencies

A. Records carrier screening results in the individual’s medical records, ensuring accessibility for future reference. (P, S)

Associated learning:

National Data Guardian: The Caldicott Principles
NHS England’s Genomics Education Programme: GeNotes: Consent conversation for genomic testing

B. Shares relevant information with the individual’s GP and other healthcare professionals, ensuring coordinated care. (P, S)

Associated learning:

British Society for Genetic Medicine: Confidentiality and genetic information
Royal College of Pathologists: Consent and confidentiality in genomic medicine – new guidance for health professionals

C. Ensures confidentiality and secure handling of genetic information. (St, A)

Associated learning:

British Society for Genetic Medicine: Confidentiality and genetic information
Information Commissioner’s Office (ICO): What is special category data?
NHS England: Confidentiality Policy
Royal College of Pathologists: Consent and confidentiality in genomic medicine – new guidance for health professionals

D. Can use opportunities to educate healthcare professionals on carrier screening where appropriate. (P, K, S)

Associated learning:

NHS England’s Genomics Education Programme:
- Facilitating genomic testing: A competency framework
- Genomics in Primary Care

Workforce groups

GPs, genetic counsellors and practice nurses

All steps

Fundamental principles relevant to all steps

Competencies

A. Provides accurate and evidence-based information on sickle cell trait and reproductive implications. (G, S)

Associated learning:

British Society for Genetic Medicine: Healthcare professionals
Genetic Alliance UK: Support and information
Royal College of General Practitioners Learning: Genomics toolkit
Royal College of Pathologists: Consent and confidentiality in genomic medicine – new guidance for health professionals

B. Recognises when to refer to genetic specialists for further advice. (P, A)

Associated learning:

NHS England: Counselling and referral for prenatal diagnosis (PND)
NHS Health A to Z: Genetic and genomic testing

C. Uses culturally sensitive and clear communication techniques. (St, K, A)

Associated learning:

e-Learning for Healthcare: Cultural Competence and Cultural Safety

D. Respects patient autonomy and decision-making preferences. (St, S, A)

Associated learning:

General Medical Council: The seven principles of decision making and consent
National Institute for Health and Care Excellence: About shared decision making
NHS England: Involving people in their own care

E. Completes documentation in a comprehensive and consistent manner. (P, S)

Associated learning:

NHS England:
- Digital Primary Care: The Good Practice Guidelines for GP electronic patient records – (GPGv5)
- Records and document management policy

Workforce groups

All roles and professions

Optional step

Long-term follow-up and education

Competencies

A. Encourages individuals to update their screening status if planning future pregnancies. (St, K)

Associated learning:

NHS England:
- Sickle cell and thalassaemia (SCT) screening: programme overview
- Sickle cell and thalassaemia: screening handbook

B. Encourages and signposts family members to genetic counselling where appropriate. (St, S)

Associated learning:

Gov.uk: Sickle cell and thalassaemia screening: family origin questionnaire
NHS England’s Genomics Education Programme: GeNotes: Clinical genetics services map
NHS Health A to Z: Carriers (sickle cell disease)

C. Promotes public awareness about sickle cell trait and available support resources. (St, S, A)

Associated learning:

Core training typically obtained as part of the professional skill set

Workforce groups

GPs, genetic counsellors, midwives and community practitioners

CPI: Sickle cell disease: preconception carrier screening

A method to identify workforce development and education needs to support sickle cell disease pathways across the NHS Genomic Medicine Service

Key

STEP 1

Identifying individuals for screening

Competencies

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 2

Providing information on testing

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 3

Consent and counselling before screening

Competencies

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 4

Conducting the screening test

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 5

Communicating results and next steps

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

Step 6

Future pregnancies and planning

Competencies

Associated learning:

Associated learning:

Associated learning:

Associated learning:

Workforce groups

STEP 7

Documentation and healthcare integration

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:

Associated learning:

Associated learning:

Workforce groups

Optional step

Long-term follow-up and education

Competencies

Associated learning:

Associated learning:

Associated learning:

Workforce groups

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