Guidance

Additional resources

Published 28 September 2020

These resources support the core counselling knowledge, skills and learning outcomes, for sickle cell and thalassaemia (SCT) health professionals whose work is focused on families at risk of these conditions. This list is not exhaustive and you may know of other resources that are equally useful.

1. Identification

The family origin questionnaire (FOQ) is a form used in antenatal screening which helps determine if a person is likely to be a carrier for SCT or other haemoglobin disorders.

Genetics for the Health Sciences: A handbook for clinical healthcare (Scion Publishing). See Chapter 2 Dealing with unexpected information 2.4.

Genetics in practice: A clinical approach for healthcare practitioners (2007) Haydon (John Wiley & Sons Ltd.) See Ch. 8 Autosomal Recessive Disorders: Unaffected Parents with 25% Risk to Offspring.

Practical Genetic Counselling (2019) 8th Edition. Peter S Harper (Hodder Arnold). See Ch. 2 Genetic Counselling in Mendelian Disorders (Autosomal recessive disorders) – see Risk of being a carrier; Population risk; Consanguinity and Marriage between affected individuals’ sections (Pg. 33-40).

See also list of Health Education England resources in section 6 below.

2. Communication

Genetics screening, choice and rights (2006) Foundation for People with Learning Disabilities.

Sickle Cell Society and UK Thalassaemia Society’s Parents’ Stories share real life experiences of women’s and couple’s SCT screening journeys and what it’s like to live with and care for a child with sickle cell or thalassaemia.

Practical Genetic Counselling (2019) 8th Edition. Peter S Harper (Hodder Arnold) Ch. 9 Prenatal Diagnosis, Antenatal Screening and Reproductive Aspects of Medical Genetics (Including sections on Criteria and indications for prenatal diagnosis; Amniocentesis; Chorionic villus sampling; Molecular prenatal diagnosis & Maternal aspects of genetic counselling in pregnancy).

NHS SCT screening programme antenatal and newborn screening information leaflets.

Glossary of terms. Definitions of words and phrases commonly used in population screening.

3. Supporting personal informed choice

Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information – Background Document (2017) British Society for Genetic Medicine. Ch. 2 Issues of confidentiality in clinical practice. Ch. 3 Issue of consent in clinical practice. Ch. 4 Consent by others.

Consent and confidentiality in genomic medicine: guidance on the use of genetic and genomic information in the clinic) RCPath. Joint Committee on Medical Genetics. (2019) A Working Party report. Genetic or genomic tests are increasingly used in everyday medical practice. Health professionals need to know and understand how consent and confidentiality issues may arise.

Principles of Consent for Nursing Staff Royal College of Nursing guidance (2017). It is a general legal and ethical principle that informed and valid consent, freely given by a person with the capacity to make that decision independently, must be obtained before commencing an examination, starting treatment or physical investigation, or providing care.

4. Knowledge and awareness

GeneReviews (USA) Comprehensive clinical information on a range of genetic conditions. Sickle cell disease, beta thalassaemia, alpha thalassaemia.

Genetics Home Reference (USA) Provides overviews of inherited conditions by the National Institutes of Health.

Practical Genetic Counselling (2019) 8th Edition. Peter S Harper (Hodder Arnold) Ch. 9 Prenatal Diagnosis and Reproductive Aspects of Medical Genetics and Ch. 34 Population Aspects of Genetic Counselling and Genetic Screening.

Sickle Cell Disease in Childhood: Standards and Recommendations for Clinical Care (2019) Sickle Cell Society. These clinical recommendations, produced by the Sickle Cell Society, have been written to support paediatricians, haematologists, specialist nurses and psychologists, and those responsible for monitoring outcomes, that is hospital trusts, commissioning authorities and peer-review services.

Standards for the Clinical Care of Adults with Sickle Cell in the UK (2018) Sickle Cell Society. These standards document the minimum standard of care individuals should be receiving and outline ways in which these standards can be achieved.

Standards for the Clinical Care of Children and Adults with Thalassaemia in the UK (2016) United Kingdom Thalassaemia Society. These standards document the minimum standard of care individuals should be receiving and outline ways in which these standards can be achieved.

5. Use of genetic information, tests and results

SCT handbook for laboratories. Includes interpretation of antenatal results, guidelines for the referral of prenatal diagnosis samples to molecular haemoglobinopathy laboratories (includes template referral forms).

UK National Reference Laboratory for Haemoglobinopathies. This provides a dedicated SCT laboratory support service for antenatal and newborn laboratories and other healthcare professionals involved in the NHS SCT screening pathway.

6. Maintaining SCT counselling knowledge and skills

NHS SCT screening programme education resources

Health Education England:

• Consent: A competency framework. This competency framework identifies the core competencies required to facilitate and consent patients for germline genomic tests. Each competency is provided with links to supporting evidence-based educational resources.

• Family history template. A genetic pedigree captures details about the health of multiple generations. This information can be important in diagnosing an inherited condition, revealing a pattern of inheritance and informing clinical decisions regarding testing and management. Understanding the relationships between family members can also be useful when considering the communication of information and the clinical management of the whole family.

• Fundamentals in Human Genetics and Genomics. This resource is aimed at NHS healthcare professionals who want to build a foundation of knowledge about the underpinning science behind genomic medicine.

• Introduction to the Counselling Skills used in Genomic Medicine. This course introduces the knowledge, communication and counselling skills as well as the appropriate attitudes and behaviours necessary to support patients and their families whose care will be influenced by genomic investigations.

King’s College London: Genetic Risk Assessment and Counselling. Developed in partnership with the SCT Screening Programme. This specialist course is designed for students to have an in-depth knowledge of common inherited disorders, and the practical applications of genetics in healthcare, including genetic testing, prevention of genetic disorders, prenatal diagnosis and genetic counselling. Funding is available from the NHS Sickle Cell and Thalassaemia Screening Programme.

Cardiff University: Genetic and Genomic Counselling (MSc). The aim of this course is to train graduates interested in the clinical application of advances in human genetics and genomics so that they can provide and critically evaluate genetic and genomic counselling services. It is not necessary to undertake a full MSc.

Glasgow University: Certificate in Counselling Skills (COSCA). This is a short course which outlines the different theoretical models of counselling. It also examines issues of personal, professional and ethical conduct.

Royal College of Midwives (accessible to RCM members only): Genetics and genomics for midwifery practice. This ‘i-learn’ online resource was originally written by the National Genetics Education and Development Centre and is now provided by the RCM. The aim of the resource is to help midwives develop a better understanding of genetics and genomics.

7. Assessing information and resources

DISCERN Genetics (2005). The DISCERN Project Team aim to provide clear guidance for users and producers of publicly available information on genetic screening and testing. This is a questionnaire which provides those using information on genetic testing and screening with ‘a valid and reliable way of assessing quality’.

Trust it or Trash it?. Creating and Assessing Genetic Information (2009). Free online tool developed by ‘The Access to Credible Genetics’ (ATCG) Resource Network, and published by Genetic Alliance, for anyone assessing the quality and completeness of health information.

8. Ongoing support

Genetics for the Health Sciences: A handbook for clinical healthcare (2009) Skirton & Patch (Scion Publishing). Chapters 6 to 11 consider implications of genetic information and testing across the life stages from preconception to the older adult.

9. Clinical governance

9.1 National Nursing and Midwifery Council

The Nursing and Midwifery Council (NMC) is the nursing and midwifery regulator for England, Wales, Scotland and Northern Ireland. It exists to protect the public and achieves this by:

• maintaining a register of nurses, midwives and nursing associates

• setting a code of conduct for professional standards of practice and behaviour

• setting standards for education and training

• ensuring that registered nurses, midwives and nursing associates keep their skills and knowledge up to date

• having clear and transparent processes to investigate nurses, midwives and nursing associates who fall short of its standards or breach their professional code

10. Ethical and social issues

Genomics Education (HEE). This short interview with an ethics researcher at the Wellcome Trust Sanger Institute provides an overview of the key ethical aspects of genomic testing.

Human Genome Project. This resource contains details of the ethical, social and legal implications of the Human Genome Project.

Nuffield Council on Bioethics. This paper describes the range of ethical issues that arise in relation to the prospect of genome editing becoming available as a reproductive option for prospective parents.

Understanding Genetics: A New York Mid-Atlantic Guide for Parents and Health Professionals (2009) Published by Genetic Alliance. Chapter 8 Ethical, Legal and Social Issues.

World Health Organization. Useful online resources on ethical, legal and social issues of human genomics.

11. Insurance

The UK agreement between the government and the British Association of Insurers, on the use of genetic test results and insurance.