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.

(Scion Publishing). See Chapter 2 Dealing with unexpected information 2.4.

(2007) Haydon (John Wiley & Sons Ltd.) See Ch. 8 Autosomal Recessive Disorders: Unaffected Parents with 25% Risk to Offspring.

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

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

2. Communication

(2006) Foundation for People with Learning Disabilities.

Sickle Cell Society and UK Thalassaemia Society바카라 사이트™s share real life experiences of women바카라 사이트™s and couple바카라 사이트™s SCT screening journeys and what it바카라 사이트™s like to live with and care for a child with sickle cell or thalassaemia.

(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

(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.

) 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.

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

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

Provides overviews of inherited conditions by the National Institutes of Health.

(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.

(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.

(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.

(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).

. 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

:

• . 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.

• . 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.

• . This resource is aimed at NHS healthcare professionals who want to build a foundation of knowledge about the underpinning science behind 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.

King바카라 사이트™s College London: . 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: . 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: . 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): . This 바카라 사이트˜i-learn바카라 사이트™ 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

(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 바카라 사이트˜a valid and reliable way of assessing quality바카라 사이트™.

. Creating and Assessing Genetic Information (2009). Free online tool developed by 바카라 사이트˜The Access to Credible Genetics바카라 사이트™ (ATCG) Resource Network, and published by Genetic Alliance, for anyone assessing the quality and completeness of health information.

8. Ongoing support

(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 for professional standards of practice and behaviour

• setting 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

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

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

. 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.

(2009) Published by Genetic Alliance. Chapter 8 Ethical, Legal and Social Issues.

. 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.