genetic risk assessment and counselling 7knim742€¦ · genetic risk assessment and counselling...

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Genetic Risk Assessment and Counselling

7KNIM742 Level: 7

Credits: 15

Module leader: Joan Walters

Tel: 020 7848 3510

Email: [email protected]

____________________________________________________________________

This handbook must be read in conjunction with module information provided on KEATS, the King’s E-Learning And Teaching Service. You will be given access to KEATS on enrolment. Important information relating to assessment and related regulations can be found on KEATS and via the Nightingale Student Hub. This handbook can also be provided in alternative formats (such as large print) upon request to [email protected].

mailto:[email protected]

https://www.kcl.ac.uk/study/learningteaching/ctel/technologies/keats.aspx


https://login-keats.kcl.ac.uk/

mailto:[email protected]

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Contents

Module overview ................................................................................................................ 3

Module aims ................................................................................................................... 3

Learning outcomes.......................................................................................................... 3

Teaching arrangements ................................................................................................... 4

Academic Support .......................................................................................................... 4

Submitting coursework ....................................................................................................... 5

Formative assessment..................................................................................................... 5

Assessment criteria ......................................................................................................... 5

Summative assessment ................................................................................................... 5

Learning outcomes.......................................................................................................... 5

Results and resubmissions for coursework ...................................................................... 7

Learning resources .............................................................................................................. 8

Day 1 .................................................................................................................................. 8

Session 1: Introduction.................................................................................................... 8

Session 2: Screening in the NHS ...................................................................................... 8

Session 3: Variant Haemoglobins .................................................................................... 8

Sessions 4 & 5: Principle of Genetic Counselling — Introduction to Communicating Genetic Information ....................................................................................................................................... 9

Day 2 .................................................................................................................................. 10

Sessions 6 & 7: Laboratory Organisation & Investigations/Understanding the Implications of First Trimester Screening ........................................................................................................ 10

Sessions 8: Counselling in Practice .................................................................................. 10

Sessions 9: E-Learning & Formative Assessment Guidance .............................................. 10

Day 3 .................................................................................................................................. 11

Session 10: Communicating & Sharing Genetic Risk Information (Cultural and Social Issues) - Research Presentations .................................................................................................................. 11

Session 11: Health Promotion Resources ......................................................................... 11

Session 12: Group Exercise (Role Play) ............................................................................ 11

Day 4 .................................................................................................................................. 12

Session 13: Group Exercise (Role Play) Part 2 .................................................................. 12

Session 14: Group Tutorial Assessment strategy.............................................................. 12

Session 15: Establishing & Operating Fail-Safe Quality Management Systems ................. 12

Session 16: The Role of the Specialist Practitioner ........................................................... 12

Journals .......................................................................................................................... 13

Module evaluation .............................................................................................................. 15

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Action from previous evaluations .................................................................................... 15

Timetable ........................................................................................................................... 16

Module overview This is as a freestanding module.

Module aims

This specialist course is designed to prepare students for clinical practice in the field of genetic risk assessment and counselling with a focus on the haemoglobinopathies

Students will be given a thorough grounding in human genetics, communication and counselling skills, and in the skills required for them both to evaluate the effects of genetics services and to maintain and expand their knowledge base.

This course aims to integrate and apply knowledge of theoretical frameworks from a variety of disciplines these include biological and social sciences, nursing/midwifery and health sciences to care for individuals, families and communities with or at risk of haemoglobinopathies.

Finally, it is expected that the course will develop a practitioner capable of empowering clients through education, counselling and screening to make informed health and social choices. As well as one who is able to reflect on practice and factors that influence professional judgement, and subsequent action.

Learning outcomes

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 and thalassaemia,

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.

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Teaching arrangements

Teaching will be shared between level 6 and level 7 courses.

Mode of teaching includes:

Lectures

Seminars

Discussions/debates

Tutorials

Self-directed study

E-learning

Academic Support

The course leader provides academic support. The level of contact, time allocated and contact method should be negotiated between the course leader and the student, especially in relation to planning, drafting and submission of course assessments.

Course Facilitators

Dr Barnaby Clark, Principal Clinical Scientist, King’s College Hospital & King’s College

London.

Dr Lola Oni, Nurse Consultant/ Lecturer, Brent Sickle Cell & Thalassaemia Centre& King’s

College London.

Professor David Rees, Professor of Paediatric Sickle Cell, King’s College Hospital/King’s

College London.

Collis Rochester Peart, Former Lead Nurse/Specialist Counsellor SE London Sickle Cell &

Thalassaemia Centre/Professional Coach.

Anaar Sajoo, Principal Genetic Counsellor/Genetics Education Facilitator, King’s College

London.

Joan Walters, Course Leader, Senior Practitioner Lecturer Child & Adolescent

Health/Paediatric Haematology, King’s College Hospital & King’s College London.

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Submitting coursework For this module you are assessed by Joan Walters and Dr Jacqueline Collin.

Formative assessment

Assessment criteria These are to be completed during the weeks between college attendances (Please see e-learning site

for guidance).

Weeks 1-2: Identification of local policies and practices up to 750 words (compare and contrast

with national policy and guidance).

Week 3-4: Video observation of client’s experience – post your views on course forum site on

issues arising from viewing (compare and contrast concepts of health, wellbeing, ill health

prevention, health enhancement and health protection. Impact of family risk information upon the

individual(s) and the family and families understanding of genetic risk).

Week 5: Identification of health promotion resources and education and training within sector

(bring information to seminar in June).

Summative assessment

Up to 3,000 words

Patient Portfolio: Critical evaluation of two counselling episodes (one must be sickle cell disease and the other thalassaemia)

o A draft outline of up to 500 words can be submitted up to Tuesday 23 July

2019.

o Although there will be group tutorials, students can contact Joan Walters for individual tutorial support. The last date for this is also Tuesday 23 July 2019.

Learning outcomes

You will demonstrate:

In-depth and systematic understanding of knowledge in your field of health care practice and the ability to work with theoretical and research-based knowledge at the forefront of your academic discipline

The ability to integrate discipline specific knowledge with knowledge primarily derived from other practice and academic disciplines.

The awareness and ability to manage the implications of ethical dilemmas and the ability to formulate solutions.

The ability to undertake analysis of complex, incomplete or contradictory areas of knowledge communicating the outcome effectively to colleagues, students or clients as appropriate.

The ability to synthesize information in a manner that may be innovative, utilising knowledge or processes from the forefront of the discipline / practice.

A level of conceptual understanding that will allow you to critically evaluate practice, research, advanced scholarship and methodologies relevant to your specialty.

Autonomy in planning and implementing tasks at a professional level, making decisions in complex and unpredictable situations

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It is suggested that the entries contain the following information:

The selection of a patient /client

When drawing upon clinical experiences ensure that confidentiality and anonymity are maintained and ensure that you have gained permission to include the patient/client/carer in your essay

Part A (Approx. 400- 500 word per entry) Make a separate entry for your patient/client identifying and briefly describing the episodes of client care giving the rationale for choosing the episodes of care. This will include an introduction of the client and their family (where applicable) and the underlying health disorder, the problem identified (including inheritance patters) and the context e.g. home, clinic etc. Part B (Approx. 1000 words per entry)

From these entries identify and discuss aspects of care management i.e.

The communication process

The social, cultural and ethical issues arising from the encounter

The care delivered in relation to national and local policies, standards and guidance e.g. NICE, NSFs or professional bodies.

Ensure that the integration of your role with other professional roles is prominent within the essay.

Use relevant literature to develop and support your discussion. Your assignment should be accurately referenced and include a reference list in accordance with college guidelines.

Please note that the purpose of the portfolio is to critically analyse care provision and that work that consists predominately of descriptors of care will result in a fail grade.

You are required to make explicit links between the theoretical content of this course and use specific examples of practice drawn from the chosen episodes of care.

In the recommendations and conclusion (Approx.200-300) A summary of the key points from your discussion and an outline of any recommendations

you have for how care could be developed or improved and; a reflection on your learning based on this experience and the areas for future personal development.

MAINTAIN CONFIDENTIALITY OF CLIENTS/PATIENTS/ORGANISATIONS/HOSPITAL. PSEUDONYMS MUST BE USED.

Please note that any issue regarded as unsafe practice will constitute an automatic fail.

Coursework submission are provided on the modules KEATS site. It is essential that you use your candidate number on all assignments/examinations. Your candidate number, which will begin with Z for the academic year 2018/19, will be available via Student Records on the King’s Intranet approximately one month after you enrol. If you are unable to submit your work by the deadline please refer to the information in your programme handbook on “mitigating circumstances”. If you require further support in these circumstances, you are advised to contact KCLSU.

Submission date for coursework: Tuesday 30 July 2019; 11.59am


https://mykcl.kcl.ac.uk/?src=HPIcon

https://internal.kcl.ac.uk/index.aspx

http://www.kcl.ac.uk/aboutkings/quality/academic/assessment/mitcir.aspx

http://www.kclsu.org/

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Late submissions will be accepted for 24 hours following the submission date. All work submitted late will be marked as normal but will be capped at the pass mark for the module. If your assignment is a hard copy, please ensure you date stamp it and submit it to the submission room G15 James Clerk Maxwell Building. If your assignment is submitted electronically through TurnItIn, information about how to submit late will be provided on KEATS module sites under assessment information. Please label the file with your candidate number and double-check you have submitted the correct file. The external examiner for this module is Paula Keating. Students are not to make direct contact with external examiners, in particular regarding their individual performance in assessments. The university and its Examination Boards in the ten Faculties (Institutes/Schools, King's Learning Institute and the Association of King's College (AKC), work with over 500 external examiners to ensure the quality and standard of our taught awards. Find the latest report on the External Examiners Report page, navigate to the Faculty’s section.

Results and resubmissions for coursework

Students will receive a provisional (unratified) mark for their coursework 4 weeks following submission. According to the method of submission as detailed on your KEATS site, if your work was submitted online you will be able to download marked coursework from KEATS; alternatively, if you completed a hard copy submission you can collect your coursework and feedback from the Nightingale Student Hub. To collect a hard copy assignment, you must provide your candidate number. Alternatively, you may send a stamped addressed envelope to the Nightingale Student Hub ensuring that this is large enough to accommodate your assignments and that you have applied sufficient postage. Hard copy assignments will be retained for four weeks; if you have not collected your assignment by then, it will be destroyed. Feedback will include the award of a numerical grade which remains provisional until ratified by the examination boards. The dates for the examination boards are available on KEATS. Ratified marks can be viewed via Student Records on the King’s Intranet, the Monday following the relevant examination board. The marking criteria by which your work is judged are provided in full in your programme handbook. Please also refer to the section in your programme handbook on plagiarism and how to avoid it. If you have a query about how to refer to a specific piece of work please ask your module leader, your group leader or a member of library staff for guidance or please use King’s Libguides site. The feedback you receive on your assignment will guide you towards how to do better next time or how to maintain your existing high standard! If you do not understand your mark or the feedback you receive please contact Joan Walters, module leader.

If you are unsuccessful, it is recommended that you contact the module leader before submitting your second attempt. This will enable the module leader to provide you with an appropriate level of support as you prepare to resubmit your work.

Resbumission date for coursework: Tuesday 15 October 2019; 11.59am.


https://internal.kcl.ac.uk/student/external-examiner-reports/index.aspx

https://internal.kcl.ac.uk/student/external-examiner-reports/index.aspx




https://mykcl.kcl.ac.uk/?src=HPIcon

https://internal.kcl.ac.uk/index.aspx

http://libguides.kcl.ac.uk/reference/JAN

http://libguides.kcl.ac.uk/reference/JAN

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Learning resources

Day 1 9 May 2019

Session 1: Introduction

Course welcome and outline.

Learning outcome and indicative reading:

Identify learning opportunities and the assessment strategy on the course.

Discuss how to use the workbook

Please access MYREADINGLISTS (Genetic Risk Assessment & Counselling) -

https://kcl.rl.talis.com/modules/7knim742.html

Session 2: Screening in the NHS

Learning outcome and indicative reading

During this session you will learn about:

Overview of NHS Screening Programme

Brief overview of cystic fibrosis, down syndrome, MCCAD, PKU ad congenital hypothyroidism

Antenatal & Neonatal Screening Programme for sickle cell and thalassaemia



Session 3: Variant Haemoglobins



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 childbearing woman and her unborn child.






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Sessions 4 & 5: Principle of Genetic Counselling — Introduction to Communicating Genetic Information



Differences between screening and diagnosis.

Taking and recording a genetic family history

Recording and interpreting a family pedigree

Cultural and genetic implication of kinship and consanguinity

Cascade screening

Determine the patterns of genetic inheritance

Examination of moral ethical dimension of screening.




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Day 2

10 May 2019

Sessions 6 & 7: Laboratory Organisation & Investigations/Understanding the Implications of First Trimester Screening



Overview of laboratory investigations

Identify test 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



Sessions 8: Counselling in Practice



Introduction to theories of genetic counselling

Role playing a counselling session



Sessions 9: E-Learning & Formative Assessment Guidance


Guidance on e-learning – and formative assessment strategy for completion during interim

weeks prior to next taught sessions in June.






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Day 3

13 June 2019

Session 10: Communicating & Sharing Genetic Risk Information (Cultural and Social Issues) - Research Presentations



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

Session 11: Health Promotion Resources



Examine, select and develop suitable educational methods and resources to meet the needs of individuals and communities.

Adopt appropriate strategies to meet diverse needs of clients at various educational levels.



Session 12: Group Exercise (Role Play)


During this session you will learn about: Discuss the factors, which contribute to breakdown in communication, which may lead to

stress, anger and display of aggression in a health care environment. Analyse the role of the health care professional as facilitator of clients learning. Developing communication and counselling skills, identify barriers to effective

communication, for effective client/carer interaction Dealing with strong emotions and identifying coping mechanisms





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Day 4

14 June 2019

Session 13: Group Exercise (Role Play) Part 2


See previous session and reading for sessions 4 & 5.

Session 14: Group Tutorial Assessment strategy

Students to have clear understanding of the requirements to fulfil the requirements of the assessment strategy.

Session 15: Establishing & Operating Fail-Safe Quality Management Systems



Audit, data requirements and recording

Critical incidence analysis

Patient satisfaction surveys

Collating and reporting data for different stakeholders



Session 16: The Role of the Specialist Practitioner


During this session you will learn about: Competences Professional regulation Role of the practitioner as a change agent in the context of specialist needs of client group in

a variety of settings Develop a strategy for delivery of specialist care Accountability in professional practice The role of the practitioner as client advocate Career progression – mentoring and coaching



Session 17: Course Evaluation

Learning outcome

Student to have an opportunity to clarify any issues arising from the course content

Written and verbal feedback of course



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The online reference list can also be found on the KEATS site.

Journals

American Journal of Hematology

Blood

Blood Reviews

British Journal of Health Psychology

British Journal of Obstetrics & Gynaecology

Community Genetics

European Journal of Haematology

European Journal of Obstetrics & genetics

Genetics in Medicine

Gynaecology

Hereditary

Journal of Human Genetics

Journal of Human Genetics

Human Genetics

Human Reproduction

International of Human genetics

Midwives

Prenatal Diagnosis

Professional Care of Mother and Child

Sociology of health and Illness

Social Science & Medicine

Transfusion


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Websites

Antenatal results & Choices – http://www.arc-uk.org/sickle-cell

Blood Cells and Red Cell Antigens - http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=rbcantigen

Boston Sickle/Thalassaemia Unit - http://sickle.bwh.harvard.edu/

California Oakland Thalassaemia Unit – http://www.thlassaemia.com/home.shtml

Cooley’s Anemia Foundation - www.thalassaemia.org

G6PD - http://www.rialto.com.g6pd/index.htm

Haemoglobin Gene Variants - http://www.chime.ucl.ac.uk/APoGI

Genetic Information Group http://www.gig.org.uk/index.html

National Institute for Health and Clinical Excellence - http://www.nice.org.uk/

National Service Frameworks (Department of Health) - www.dh.gov.uk/en/Healthcare/NationalServiceFrameworks/index.htm

The Management of Sickle Cell - http://www.nhlbi.nih.gov/health/prof/blood/sickle/index.htm

The NHS Sickle cell and Thalassaemia Screening Programme- http://sct.screening.nhs.uk/

Unit for the Study of Thalassaemia & Sickle Cell - http://www.tascunit.com/

The Sickle Cell Society - www.sicklecellsociety.org

The UK Thalassaemia Society - www.ukts.org

The Comprehensive Sickle Cell Centre Georgia - http://www.scinfo.org/

Databases

The Cochrane Database of Systematic Reviews

http://www.arc-uk.org/sickle-cell

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=rbcantigen

http://sickle.bwh.harvard.edu/

http://www.thlassaemia.com/home.shtml

http://www.thalassaemia.org/

http://www.rialto.com.g6pd/index.htm

http://www.chime.ucl.ac.uk/APoGI

http://www.gig.org.uk/index.html

http://www.nice.org.uk/

http://www.dh.gov.uk/en/Healthcare/NationalServiceFrameworks/index.htm

http://www.nhlbi.nih.gov/health/prof/blood/sickle/index.htm

http://sct.screening.nhs.uk/

http://www.tascunit.com/

http://www.sicklecellsociety.org/

http://www.ukts.org/

http://www.scinfo.org/

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Module evaluation As part of the university’s Student Voice Strategy, King’s uses an electronic module evaluation system known as EvaSys. This provides an opportunity for you to feedback on different aspects of the module through a series of pre-set questions and qualitative comments. At the end of the module you will receive an automated invitation via your KCL email account to complete your evaluation online.

Please take the time to complete as your feedback is important. It informs ongoing developments to individual modules to ensure that the learning needs and expectations of the Faculty’s student community are met to a high standard.

To strengthen the feedback cycle, a report summarizing the quantitative results for the module as a whole and the module lead’s reflections on your feedback will be sent to you after the online evaluation survey has closed.

Action from previous evaluations 1. Session on variant haemoglobins extended as requested for 2018/19 as requested by course

participants and course management team.

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Timetable The most up-to-date timetable can be found online here: https://timetables.kcl.ac.uk/ Please login using your K-number and password.

6KNIN640 & 7KNIM742 Genetic Risk Assessment & Counselling

Teaching mode

Date Type of Session

Title Time Lecturer Room

University based study

Day 1

9 May 2019

Introduction

Welcome & Introduction

Course overview including assessment strategy and learning resources; Competences - frameworks introduction.

09.30-10.15

Joan Walters

Dr Lola Oni, Collis Rochester Peart & Anaar Sajoo

FWB. 3.52

Lecture

Screening in the NHS

Overview of NHS Screening Programme. Antenatal & Neonatal Screening Programme.

10.15-11.00 Joan Walters

Abnormal haemoglobins

The aetiology, epidemiology and natural history of and their genetic basis.

11.30-13.30 Dr Lola Oni & Collis Rochester Peart

Workshop

Principles of genetic counselling

Differences between screening and diagnosis. Taking and recording a genetic family history Recording and interpreting a family pedigree Cultural and genetic implication of kinship and consanguinity.

14.00-15.30

Anaar Sajoo Cascade screening

Introduction to methods of communicating genetic information.

Principles of non-directive counselling.

Assessing and providing correct information on genetic risk Providing non-directive pre-conception or early pregnancy advice to at-risk carrier couples.

15.45-17.00

https://timetables.kcl.ac.uk/KCLSWS/SDB1819RDB/login.aspx?ReturnUrl=%2fkclsws%2fSDB1819RDB%2fdefault.aspx

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Day 2

10 May 2019

Seminar

Laboratory organisation and investigations

Identification tests available to detect carrier including the distribution of values in the target population policy on further laboratory investigations of haematological and molecular testing.

09.00-10.30

Dr Barnaby Clark

FWB. 2.40 Understanding the importance of first trimester screening and diagnosis

Use of and interpretation of laboratory blood tests for carrier testing (including implications for childbearing woman and her unborn child).

Referral guidelines for expert counselling/prenatal diagnosis.

11.00-12.30

Guidance on e-learning and formative assessment 13.30-1400 Joan Walters

FWB 3.52 Workshop

Counselling in practice

Introduction to theories of genetic counselling. Role playing a counselling session.

E-learning –and formative assessment strategy. Practice exercise.

14.00-17.00

Dr Lola Oni, Collis Rochester Peart, Anaar Sajoo & Joan Walters

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E-learning 13 May-10 June 2019

PLEASE SEE KEATS SITE FOR FORMATIVE ASSESSMENT GUIDELINES

No classroom sessions


Day 3

13 June 2019

Seminar

Research presentations

Ethical, cultural and social issues in understanding of genetic risk.

09.00-11.00 Dr Lola Oni

FWB. 2.81

Service user experience (telling parents stories) 11.30-13.30


Service user TBC

Workshop

Group exercises (role play) part 1

Choosing strategies for effective communication. Dealing with the potential consequences of ineffective communication (including breakdown in communication, displays of stress, anger and aggression.

14.30-17.00


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Day 4

14 June 2019

Workshop

Group exercises (role play) part 2

Choosing strategies for effective communication. Dealing with the potential consequences of ineffective communication (including breakdown in communication, displays of stress, anger and aggression.

09.00-10.30


FWB. 2.40

Seminar

Group Tutorial

Summative Assessment strategy. 11.00-11.40 Joan Walters

Establishing and operating fail-safe quality management systems

(Group work and feedback from guided study) Audit, data requirements and recording critical incidence analysis. Patient satisfaction surveys.

Collating and reporting data for different stakeholders.

11.45-13.00 Dr Lola Oni, Collis Rochester Peart, Anaar Sajoo

FWB 3.52

The role of the specialist practitioner

Professional Regulation.

Career progression - Mentoring and Coaching.

13.30-15.00 Dr Lola Oni, Collis Rochester Peart, Anaar Sajoo & Joan Walters

Course Evaluation/Close 15.00-16.00 ALL

Location key:

FWB – Franklin-Wilkins Building, Waterloo Campus

genetic risk assessment and counselling 7knim742€¦ · genetic risk assessment and counselling...

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