Genetic Risk Assessment & Counselling Level 7 7KNIM742

• Overview of the NHS Screening Programme
• Antenatal & Neonatal Screening Programme for sickle cell and thalassaemia
• Structure and physiology of normal haemoglobin
• Structure and pathophysiology of abnormal haemoglobin - sickle cell, haemoglobin C and beta thalassaemia, other abnormal haemoglobins and G6PD.
• Appraise and assess the implications of sickle cell, thalassaemia and other haemoglobin variants to the childbearing woman and her unborn child.
• Differences between screening and diagnosis.
• Taking and recording a genetic family history
• Recording and interpreting a family pedigree
• The cultural and genetic implication of kinship and consanguinity
• Cascade screening
• Determine the patterns of genetic inheritance
• Examination of the moral ethical dimension of screening.
• Overview of laboratory investigations
• Identify tests available to detect carrier and disease state
• Distribution of values in the target population
• Policy on further investigations
• Importance of first-trimester screening and diagnosis
• Pathway for the management of a high-risk pregnancy
• Introduction to theories of genetic counselling
• Role-playing a counselling session 
• Beliefs, values and attitudes to health
• Examine how culture informs both lay and professional definitions of health and service provision.
• Concepts and principles of health education, health promotion, ill health prevention and health protection
• Discuss the factors, which contribute to a breakdown in communication, which may lead to stress, anger and display of aggression in a healthcare environment.
• Analyse the role of the health care professional as a facilitator of client learning.
• Developing communication and counselling skills, identifying barriers to effective communication, for effective client/carer interaction
• Dealing with strong emotions and identifying coping mechanisms
• Examine, select and develop suitable educational methods and resources to meet the needs of individuals and communities.
• Adopt appropriate strategies to meet the diverse needs of clients at various educational levels.
• Establishing & Operating Fail-Safe Quality Management Systems
• The Role of the Specialist Practitioner  

On completion of this module, the student will be able to:

• Outline the NHS Antenatal and Neonatal Screening Programme for sickle cell and thalassaemia and other genetic conditions.
• Categorise populations ‘at risk’, modes of inheritance and potential health implications for commonly inherited disorders including sickle cell disease, thalassaemia, cystic fibrosis, and haemophilia.
• Communicate genetics information to take account of modes of inheritance, genetic risk and parents understanding of different types of risk presentation.
• Critically examine the moral and ethical dimensions of screening including informed consent and screening, non-directive counselling, non-paternity, potential cut-off points for prenatal diagnosis, paternity issues surrounding the clinical risk assessment of the woman’s pregnancy
• Identify, use and interpret laboratory tests available to detect carrier and disease state with knowledge of the distribution of values in the target population with an understanding of the importance of first trimester screening and diagnosis.
• Develop a pathway for the management high risk pregnancies (including women who have a haemoglobin disorder) and clients living with a haemoglobinopathy following recommended referral guidelines.
• Examine, select and develop suitable educational methods and resources to meet the needs of individuals, communities and health care practitioners.
• Critically apply the theoretical knowledge of culturally competent care.
• Critically review and discuss current research findings and their potential application and utilisation in practice.

Qualified healthcare professionals – Nurse, Midwife or Health Visitor

Portfolio ( level 6 3000 words and level 7 3500 words)

Term 3 -

02/05/2024, 03/05, 06/06, 07/06

The course dates indicate face-to-face delivery with online work to be completed between the dates.