Genetic counselling: Learning resources

Transcription

SC&T COUNSELLING COMPETENCES: 3 Learning resources
3
Learning resources
Resources to support
core competences and
learning outcomes in
genetics for health
professionals whose
work is focused on
families at risk of
sickle cell disease or
thalassaemia
A selection of resources has been identified
to support users of the framework in
developing their competence.
When selecting resources, no assumption has
been made of the level of prior knowledge
that the end user may have.
Wherever possible, the specific content
within a resource (e.g. section of a book or
page within a website) that is relevant to the
genetic competence has been identified.
However, for some resources this has not
been done as either multiple sections or the
whole resource is important.
The resources are in a range of formats
including text books, reports, websites, videos
and worksheets. Where ever possible a URL
has been included to give you direct access
to the information. This list is not exhaustive
and you may know of other resources that
you will find equally useful.
Identification
Comp 1:
Identify individuals who
might benefit from genetic
services and/or information
through a comprehensive
assessment:
• that recognises the key indicators of a potential inherited
genetic conditions
• that recognises the importance of family history in assessing
predisposition to disease
• that also recognises the potential impact of the condition on
the individual or family and their support needs
• taking appropriate action to seek assistance from and refer individuals
to genetics and other relevant specialists and peer support resources,
• describing local and national policies, especially those relevant
to the offer of preconception testing, antenatal screening, newborn
screening, prenatal diagnosis and pre-implantation genetic diagnosis.
Learning outcome
Suggested resources
1.1
Explore and interpret the
multigenerational family
history to assess potential
risk of inherited genetic
conditions, especially in
relation to sickle cell disease
and thalassaemia.
• Core information: Key clinical information (Pegasus). Pg 1&2 provides
family origin information. (PA Farndon, 2008 Innovait 1 (8): 561574. [Part of a series] – See Box 2 ‘Features suggestive of a genetic
condition or inherited susceptibility to a common disease’
• Core information: Who does it affect? (PEGASUS) (pg 1&2 provides
family origin information)
• NHS Sickle Cell and Thalassaemia Screening Programme Family Origin
Questionnaire
• Genetics in practice: A clinical approach for healthcare practitioners
(Haydon 2007, John Wiley & Sons Ltd) – Ch.8 Autosomal Recessive
Disorders - case studies 2 (thalassaemia) & 3 (sickle cell)
• PEGASUS Front line professionals – Manual for Health Professional
Educators and Training Facilitators [slides 6-16]
• SC&T Genetic Competence Training Videos:
• Clip 1. Information on carrier testing during pregnancy, including
explanation of sickle cell trait
• Clip 3. Giving information about carrier testing when a family
member has previously been diagnosed with sickle cell disease
• Clip 7. Carrier result and discussion of testing of children
• Clip 8. Discussion with parents of a newborn found to be a carrier of
an abnormal haemoglobin.
Learning outcome
Suggested resources
1.2
Construct a multi
generational family pedigree
for the process of assessing
genetic health risk.
• Taking and Drawing a Family History (NGEDC) – All sections [especially
Parts 1 Key points, 4 Symbols and 6 Gathering]
• Drawing a Family History activity – haemophilia A (NGEDC) - drawing
activity
• Drawing a Family History activity - A family with two children who have
a blood disorder (NGEDC) - drawing activity
• Autosomal inheritance template can be used to draw out the possible
combinations of alleles based on what is known about the parents
(NGEDC)
• SC&T Genetic Competence Training Worksheet - Drawing a Family
History: Scenario 1 Carrie alpha thalassaemia, Scenario 2 Faye sickle
cell disease
• Genetics for the Health Sciences: A handbook for clinical healthcare
(Skirton & Patch 2009, Scion Publishing ) - Ch 2 The Family History
(2.1-3, 2.6)
1.3
Make an accurate genetic
risk assessment for
individuals at risk of
sickle cell disease and
thalassaemia or their
offspring.
• See SC&T Genetic Competence Training Worksheet – Risk Assessment
Exercises (Families 1-4)
• Practical Genetic Counselling 7th Edition (Peter S Harper 2010, Hodder
Arnold) 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
pg33-40]
(Skirton & Patch 2009, Scion Publishing) - Ch 2 (Dealing with
unexpected information 2.4)
• PEGASUS Basic Genetics (includes probabilities of a relative of
someone with a recessive condition being a carrier and carrier
frequencies within different ethnic groups). Specialist Practitioner
Revision Slides - Epidemiology Part 1 covers gene and carrier
frequencies in more depth
• Autosomal inheritance template (NGEDC) can be used to draw out
the possible combinations of alleles (for both dominant and recessive
conditions) based on what is known about the parents.
Learning outcome
Suggested resources
1.4
Recognise that for some
individuals affected by or at
risk of a condition there may
be no family history of that
condition
Arnold) Ch 2 Genetic Counselling in Mendelian Disorders [Autosomal
recessive disorders pg33-40]
• Clip 5. Information giving to a couple considering prenatal diagnosis
for thalassaemia
an abnormal haemoglobin
1.5
Explain the relevant
inheritance patterns and
mechanisms by which
inherited genetic disease
may occur.
• Recognising the common patterns of inheritance in families (PA
Farndon, 2008 Innovait 1 (8): 561-574. [Part of a series] – Key Points
(Skirton & Patch 2009, Scion Publishing) - Ch 2 (2.5, 2.6.1)
• Clip 2. Giving a carrier result during pregnancy and discussion of
partner testing
• Clip 4. Explanation of sickle cell disease
for thalassaemia.
1.6
Use and evaluate
relevant genetic/genomic
information resources to
inform practice.
• See Competence 7 Obtain and communicate credible, current
information about genetics/genomics, for self, service users and
colleagues.
1.7
Describe the roles of the
specialist genetic services
and other agencies and
the referral pathway for
appropriate individuals.
Specialist genetic centres offer services to people with a range of genetic
conditions and are staffed by medical geneticists and genetic counsellors
who are specifically trained in genetic healthcare, while specialist sickle
cell and thalassaemia centre service focus on those conditions.
• British Soc of Human Genetics (BSHG): List of UK specialist centres;
Why are people referred to Medical Genetics? and What Happens at a
Medical Genetics Appointment?
Learning outcome
Suggested resources
1.8
Describe the typical care
pathway (for people at risk
of or affected by sickle cell
disease or thalassaemia)
that incorporates genetic
services and information.
• PEGASUS Core information – the screening cascade for haemoglobin
disorders (pg3)
• Map of Medicine Healthguides: 1) Newborn blood spot screening; 2)
Linked SC&T Screening, Sickle cell disease; 3) primary care; 4) basic
management and disease modification.
Sensitive Communication
Comp 2:
Demonstrate the
importance of sensitivity in
tailoring genetic/ genomic
information and services to
clients’ culture, knowledge,
language ability and
developmental stage:
Learning outcome
2.1
Demonstrate the use of
appropriate communication
skills in relation to the
individual’s level of
understanding of genetics
issues.
2.2
Explain the impact of
culture, ethnicity, religion
and values on an individual’s
potential use of genetic
information and services.
• recognising that ethnicity, culture, religion, ethical perspectives and
developmental stage may influence the clients’ ability to utilise these
• demonstrating sensitivity to cultural attitudes and norms and the
impact of these on families
• demonstrating the use of appropriate communication skills in relation
to the individual’s level of understanding of genetics/genomics issues.
Suggested resources
• NHS Screening Choices: Getting the best from the consultation ,
Understanding and communicating risk, Valuing choice for everyone
– valuing diversity
• Foundation for People with Learning Disabilities Barr & Skirton
(2006) Genetics: screening, choice and rights ISBN: 978-1-90364588-8.
• PEGASUS Responding to diversity http://www.pegasus.nhs.uk/
Resources/Core%20Info/core4.php PDF not currently available
(includes tips for enhancing communication, working with an
interpreter and valuing people in a cultural context) [Specialist
Practitioner Additional Revision material – Cultural and genetic
implications of kinship and consanguinity goes into much greater
detail]
• RCN (self directed learning course) Transcultural Health Care Practice:
An educational resource for nurses and health care practitioners
[Includes a module on communication]
(Haydon 2007, John Wiley & Sons Ltd) Ch13 Ethnicity
Arnold) Ch27 Population Aspects of Genetic Counselling & Genetic
Screening [Cultural aspects of genetic counselling pg367]
• NHS Screening Choices: Perceptions of ethnic origin and religious
beliefs (pg15) of The parent perspective on screening.
Learning outcome
Suggested resources
2.3
Demonstrate sensitivity
in presenting options
for carrier, prenatal and
neonatal genetic testing. • Practical Genetic Counselling 7th Edition (Peter S Harper 2010, Hodder
Arnold) Ch8 Prenatal Diagnosis 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)
partner testing
for thalassaemia.
2.4
Describe how the impact
of genetic information on
an individual and/or family
is influenced by multiple
factors.
• NHS Screening Choices Understanding and communicating risk - pg
7 list a number of factors that can influence perception of risk and
decision making.
Where appropriate discuss with individuals how risk information might
be shared with other family members and the potential impact of it:
• Consent and confidentiality in Genetic Practice: Guidance on genetic
testing and sharing genetic information (BSHG, 2006)
• Confidentiality in medical genetics (Genetic Interest Group [GIG] 1998
now Genetic Alliance UK [GAUK])
member has previously been diagnosed with sickle cell disease.
Upholding Rights
Comp 3:
Advocate for the rights
of all clients to informed
decision making and
voluntary action:
• understanding the importance of providing genetic/genomic
information and counselling fairly, accurately and without coercion or
personal bias
• recognising that personal values and beliefs of self and client may
influence the care and support provided during decision-making and
• based on an awareness of the potential for misuse of human genetic/
genomic information.
Learning outcome
Suggested resources
3.1
Utilise a non-directive
approach to underpin
the process of genetic
counselling to facilitate
client autonomy and
empowerment.
Skirton & Patch 2009, Scion Publishing (Section 3.4 Nondirectiveness)
Arnold) Ch1 Genetic Counselling: an introduction [Section Genetic
counselling and non-directiveness].
• NHS National Genetics Education and Development Centre - teaching
and learning resources
3.2
Explore how the
practitioner’s personal
values and beliefs in relation
to ethical, cultural, religious
and ethnic issues could
impact on client care.
• NHS Screening Choices: Valuing choice for everyone – valuing diversity
[Activity 3 pg8 – Where do you stand? Reflecting on your own core
views and values]
3.3
Recognise situations where
autonomous choice may
have an adverse impact on
the health of the individual,
or others may be adversely
affected.
• Confidentiality and medical genetics (Genetic Interest Group 1998 now
GAUK) Includes The right not to know and Breaking tiality.
• NHS Screening Choices: Perceptions of ethnic origin and religious
beliefs (pg15) of The parent perspective on screening.
Learning outcome
Suggested resources
3.4
Facilitate the individual’s
rights to self determination
through ensuring informed
decision making and
voluntary action, including
obtaining informed consent
for testing.
• NHS Screening Choices: Informed choice in antenatal and newborn
screening
• EuroGen Guide Guidelines for health professionals about informed
consent procedures in Europe
• Perspectives of client personal values are addressed in - Genetics in
practice: A clinical approach for healthcare practitioners Haydon 2007,
John Wiley & Sons Ltd Ch5 Risk perception and options available and
the EuroGen Guide Ethnicity and Guidelines for health professionals
about family issues in genetics in Europe (includes gender differences)
• The potential for misuse of human genetic/genomic information and
associated topics are discussed in the Human Genetics Commission
reports: Inside information: Balancing interests in the use of personal
genetic data (2002) Full report , Summary and The concept of genetic
discrimination (2011).
3.5
Describe local policy and
national/legal frameworks
that seek to ensure that
the particular needs
of those unable to give
informed consent (for
example children or
vulnerable adults) in relation
to accessing genetic
information are addressed.
• British Society for Human Genetics Report on the Genetic Testing of
Children (2010) (includes parental decision making, children’s choice
and disclosure of carrier status), Consent and confidentiality in Genetic
Practice: Guidance on genetic testing and sharing genetic information
(2006) [Section 1.6 Individuals with learning disabilities]
• EuroGen Guide Guidelines for health professionals about informed
consent procedures in Europe and Guidelines for health professionals
dealing with vulnerable people (includes economic status, mental
handicap or mental illness, age, ethnicity and sex)
member has previously been diagnosed with sickle cell disease.
Knowledge & awareness
Comp 4:
Demonstrate knowledge
of the role of genetic and
other factors in health and
disease:
• utilising understanding of the role of genetic factors in health and
disease, especially in relation to sickle cell disease and thalassaemia
(to underpin practice)
• recognising the difference between germline and somatic genetic
disease
• educating other health professionals in relation to genetics,
specifically to sickle cell disease and thalassaemia
• acting as a specialist resource to other health professionals (including
the genetics team) in relation to genetic conditions, particularly sickle
cell disease and thalassaemia
• demonstrating an awareness of appropriate measures for the
prevention or amelioration of disease or disease expression for
genetic conditions.
Learning outcome
Suggested resources
4.1
Explore the role of genetic
factors in health and disease,
especially in relation to sickle
cell disease and thalassaemia
and its prevalence in different
communities.
• GeneReviews (comprehensive clinical information on a range of
genetic conditions): Sickle cell disease, beta thalassaemia, alpha
thalassaemia
• PEGASUS Core information: Key Clinical Information Basic Genetics
(PDF not currently available)
• SC&T Screening Programme Annual Data Reports
for thalassaemia
4.2
Distinguish between genetic
susceptibility and clinical
manifestation of disease,
using basic concepts of risk.
Learning outcome
Suggested resources
4.3
Explain the implications
of concurrent genetic
conditions (e.g. G6PD) that
may have an impact on care.
• Genetics Home Reference (Overviews of inherited conditions provided
by the National Institutes of Health USA) Glucose-6-phosphate
dehydrogenase deficiency
4.4
Educate health professionals
and others about genetics in
relation to sickle cell disease
and thalassaemia.
• NHS National Genetics Education and Development Centre – teaching
and learning resources.
4.5
Demonstrate an awareness
of measures to prevent
or reduce the severity
of sickle cell disease and
thalassaemia.
(Haydon 2007, John Wiley & Sons Ltd) Ch5 Tests and Pregnancy
options
• Brent SC & T Centre G6PD information.
Arnold) Ch8 Prenatal diagnosis and reproductive aspects of medical
genetics and ch 27 Population aspects of genetic counselling and
genetic screening
• Human Genetics Commission (2006) Increasing options, informing
choice: A report on preconception genetic testing and screening
• For other ‘non-genetic’ related management options eg clinical and
lifestyle please refer to the RCN Competences - Caring for people
with sickle cell disease and thalassaemia syndromes: A framework for
nursing staff and other local and national guidance.
Use of genetic information
Comp 5:
Apply knowledge and
understanding of the
utility and limitations of
genetic/genomic testing
and information to underpin
care and support for
individuals and families
prior to, during and
following decision-making:
• incorporating awareness of the ethical, legal and social issues
related to testing, recording, sharing and storage of genetic/genomic
information
• incorporating awareness of the potential physical, psychological and
social consequences of genetic/genomic information for individuals,
family members, and communities
• demonstrating confidentiality and maintenance of privacy when
discussing and recording genetic information
• seeking consent to disclose genetic information to other family
members
• demonstrating knowledge of the screening and diagnostic tests
available along patient care pathways and how to request these,
showing understanding of what tests can be offered at different
stages of the patients care
• demonstrating knowledge of the meaning of test results
• giving clear explanations to individuals on test procedures and
reporting timelines.
Learning outcome
Suggested resources
5.1
Explain how confidentiality
and privacy are maintained
when discussing and
recording genetic
information.
• British Society for Human Genetics: Consent and confidentiality in
Genetic Practice: Guidance on genetic testing and sharing genetic
information (2006) Report on the Genetic Testing of Children (2010)
(includes parental decision making, children’s choice and disclosure of
carrier status)
• Confidentiality and medical genetics (Genetic Interest Group 1998 now
GAUK) Includes The right not to know and Breaking confidentiality.
• Human Genetics Commission reports: Inside inforwmation: Balancing
interests in the use of personal genetic data (2002) Full report,
Summary.
5.2
Explain the importance of
information governance in
relation to record-keeping.
5.3
Describe features of an
appropriate environment in
which to discuss genetic/
genomic information.
• NHS Screening Choices: Getting the best from the consultation
Learning outcome
Suggested resources
5.4
Communicate information in
an appropriate and sensitive
way, involving appropriate
health professional(s) as
necessary.
Skirton & Patch 2009, Scion Publishing (Chapter 3 Counselling issues)
5.5
Recognise need to obtain
consent to share information
with other professionals and
with other family members
as appropriate.
• British Society for Human Genetics: Consent and confidentiality in
Genetic Practice: Guidance on genetic testing and sharing genetic
information (2006).
• See Competence 2 Demonstrate the importance of sensitivity in
tailoring genetic/genomic information and services to clients’ culture,
knowledge, language ability and developmental stage.
• Nursing & Midwifery Council Consent (Includes professional
responsibility, obtaining consent, complex situations and links to
further information)
partner testing.
Practises within a context
of effective and rigorous
Information Governance.
Based on local and national guidelines
5.6
Recognise and describe
situations where ongoing
support to individuals and
families is appropriate.
Learning outcome
Suggested resources
5.7
Respond appropriately and
effectively to enquiries
about genetic/genomic
concerns, recognising
the limitations of own
knowledge.
partner testing
for thalassaemia
• Clip 6. Giving the result of a prenatal diagnostic test
5.8
Evaluate the relevance
of genetic/genomic
information available to
individuals.
• DISCERN Genetics - provides those using information on genetic
testing and screening with a valid and reliable way of assessing quality
using a questionnaire based tool.
5.9
Recognise the potential
risks, benefits and
limitations of genetic testing
and access to genetic
information for the patient,
the family and others.
• Bradley AN (2005) Utility and limitations of genetic testing and
information. Nursing Standard. 20, 5, 52-55
5.10
Describe the potential
psychological effects of
accepting or declining
genetic/genomic testing on
the individual and family.
Skirton & Patch 2009 Case histories throughout this book illustrate a
number of the psychological effects
• Trust It or Trash It? Free online tool developed by ‘The Access To
Credible Genetics (ATCG) Resource Network’ for anyone assessing the
quality and completeness of health information.
• NHS Sickle Cell and Thallassaemia Screening Programme, Handbook
for Laboratories, 3rd Edt; Oct 2012 Includes information on the
limitations of screening tests as well as Situations requiring particular
care (pg25) and Appendix 6 Guidance concerning non-paternity.
• SC&T Screening Programme – The Family Legacy [A three part drama,
available to watch online]
• Green JM et al (2004) Psychosocial aspects of genetic screening
of pregnant women and newborns: a systematic review Health
Technology Assessment 8(33)1-124.
Learning outcome
Suggested resources
5.11
Describe relevant
procedures for requesting
blood tests, including
completing test order forms.
• NHS Sickle Cell and Thalassaemia Screening Programme, Handbook
for Laboratories, 3rd Edt; Oct 2012 [includes referral guidelines
(pg 47-52), contact details of laboratories involved in Appendix 9
newborn screening and Appendix 10 prenatal diagnosis (PND) and
pre-implantation genetic diagnosis (PGD)] Guidelines for the referral of
sickle cell and thalassaemia prenatal diagnosis samples to molecular
haemoglobinopathy laboratories (includes referral forms) & Protocol
for reporting newborn screening results for sickle cell disease to
parents
• National Reference Laboratory for haemoglobinopathies (also
provides support to health professional requiring advice interpreting
haemoglobinopathy laboratory results).
5.12
Demonstrate understanding
of difference between
screening and diagnostic
tests.
• UK Screening Portal What is screening? Includes a definition and
animation
5.13
Demonstrate awareness of
methods used for screening
and diagnostic testing.
for Laboratories, 3rd Edt; Oct 2012 Includes information on methods,
reporting criteria and reporting times
• PEGASUS Glossary
(Skirton & Patch 2009, Scion Publishing) Section 1.4 Types of genetic test.
• PEGASUS Specialist Practitioner revision material Laboratory
investigation – newborn screening slides.
Professionalism
Comp 6:
Examine one’s own
competency to practice on a
regular basis:
• recognising areas where professional development related to
genetics/genomics would be beneficial
• maintaining awareness of clinical developments in genetics/genomics
that are likely to be of most relevance to the client group
• understanding the responsibilities of one’s professional role in the
referral, provision or follow-up to genetics services
• maintaining and updating knowledge and skills through lifelong
learning.
Learning outcome
6.1
Explore own strengths
and weaknesses in genetic
knowledge and practice.
6.2
Maintain contemporaneous
knowledge of genetic/
genomic developments and
the implications for own
practice.
Suggested resources
• Association of Genetic Nurses and Counsellors (AGNC) Supervision
Working Group – Report on Genetic Counselling Supervision
• Courses: King’s College London Genetic Risk Assessment and
Counselling (developed in partnership with the NHS Sickle Cell
and Thalassaemia screening programme) Haemoglobinopathies:
short counselling course ; Plymouth University modules for health
professionals working in genetic contexts: Practical Skills for Health
Genetics, Genetic Science for Health Professionals, Counselling Skills
for Health Genetics.
• Professional organisations: National Institute for Health and
Clinical Excellence, British Society for Haematology, UK Forum on
Haemoglobin Disorders, Royal College of Pathologists
• Refer to the statutory obligations set out for continuing professional
development (CPD) by your professional body. For example Nursing
& Midwifery Council – CPD and practice.
6.3
Describe own role in relation
to referral, provision and
follow-up to genetics, in
the context of the multidisciplinary care team.
for Laboratories, 3rd Edt; Oct 2012 [pg 20-21Lines of responsibility]
• PEGASUS Core information What is your role in the antenatal and
newborn screening for genetic disorders?
Assessing information and resources
Comp 7:
Obtain and communicate
credible, current
information about genetics/
genomics, for self, service
users and colleagues:
• using information technologies and other information sources
effectively
• applying critical appraisal skills to assess the quality of information
accessed
• signposting others to sources of reliable information and support.
Learning outcome
Suggested resources
7.1
Employ a range of
appropriate genetic
information resources to
inform practice.
• NHS Sickle Cell and Thalassaemia Screening Programme includes
leaflets and factsheets for health professionals, parents-to-be and
carriers of an unusual haemoglobin gene
7.2
Incorporate current genetic
knowledge from reputable
sources into practice.
• Support organisations: Condition specific - National eg UK Sickle Cell
Society and UK Thalassaemia Society and appropriate local sickle
cell and thalassaemia centres (contact the Sickle and Thalassaemia
Association of Counsellors (STAC) for details); or more general eg
Genetic Alliance UK
• PEGASUS including Education resources for health professionals
involved in screening and Information for health professionals to give
to patients
• APoGI (Accessible Publishing of Genetic Information) resource for
Haemoglobin Gene Variants
• See also 6.2. http://sct.screening.nhs.uk/.
7.3
Critically evaluate and utilise
reliable genetic evidence
when communicating with
patient/clients.
• DISCERN Genetics - provides those using information on genetic
testing and screening with a valid and reliable way of assessing quality
using a questionnaire based tool
• Trust It or Trash It? Free online tool developed by ‘The Access To
Credible Genetics (ATCG) Resource Network’ for anyone assessing the
quality and completeness of health information
• National Human Genome Research Institute (USA) Finding reliable
health information online includes a number of links to quality
resources.
7.4
Develop effective
communication strategies to
inform clients and colleagues
of relevant genetic/genomic
information.
• NHS National Genetics Education and Development Centre – teaching
and learning resources.
Ongoing support
Comp 8:
Provide ongoing support
to individuals and families
with sickle cell disease and
thalassaemia, or signpost to
relevant services:
• being responsive to changing needs
• demonstrating awareness about how an inherited condition, and its
implications for family members, might impact on family dynamics
• working in partnership with family members, voluntary organizations,
support groups and other agencies in the management of conditions
• recognising the expertise of individuals and family members that
develops over time and with experience
• providing services consistent with the SC&T nursing competences.
Learning outcome
Suggested resources
8.1
Explain the potential
psychological and social
impact of the genetic
aspects of sickle cell disease
and thalassaemia on the
individual and the family.
• Read and listen to real life accounts at SC&T Screening Programme;
Telling Stories, Understanding Real Life Genetics; Genes are Us and
Health Talk Online (Screening for sickle cell and thalassaemia)
8.2
Recognise the relevance
of life stages to needs for
genetic information and
genetic counselling and how
concerns may change over
the lifespan.
(Skirton & Patch 2009, Scion Publishing) Ch 6-11 considers implications
of genetic information and testing across the life stages from preconception to the older adult.
8.3
Recognise and utilise the
expertise of patients/
clients and their families
with respect to managing
sickle cell disease and
thalassaemia.
• RCN Competences - Caring for people with sickle cell disease and
thalassaemia syndromes: A framework for nursing staff http://sct.
screening.nhs.uk/nursing-framework#fileid11409
• The NHS Expert Patient Programme A self-management programme
for people who are living with a chronic (long-term) condition
• Living with Sickle Cell Disease, being an accredited Expert Patient
Programme Facilitator and Regional Care Advisor for Sickle Cell
Society – Mike’s story.
Learning outcome
Suggested resources
8.4
Promote a collaborative
approach to enhance
patient/client care in
relation to genetics/
genomics with other
statutory and voluntary
organisations.
• Map of Medicine Health guides for Sickle cell disease: primary care,
management of acute complications and basic management and
disease modification
• RCN Competences - Caring for people with sickle cell disease and
thalassaemia syndromes: A framework for nursing staff http://sct.
screening.nhs.uk/nursing-framework#fileid11409 (competence 10)
for Laboratories, 3rd Edt; Oct 2012 Appendix 11 Proposed networks of
clinical care
• Race Equality Foundation Briefing Paper 17 K Atkin & EN Anionwu
(2010) The social consequences of sickle cell and thalassaemia:
improving the quality of support (Pg5 section on comprehensive care
and references therein)
• UK Sickle Cell Society and UK Thalassaemia Society and other local
organisations as appropriate.
All material listed as PEGASUS should
be acknowledged as ‘PEGASUS:
Professional Education for Genetics
Assessment and Screening. © 2006
University of Nottingham (on behalf of
PEGASUS) www.pegasus.nhs.uk’
Where a reference is made to the
SC&T Genetic Competence Training
Videos these are hosted on the SC&T
Screening site.
Glossary of key terms
Term
Definition
antenatal screening Screening tests carried out during pregnancy to determine likelihood of
the pregnant woman being a carrier of the condition
autosomal recessive
Type of inheritance pattern wherein both parents are carriers and an
affected person inherits one mutated copy of the relevant gene from
each parent
carrier
Person who has one normal and one mutated copy of the relevant
disease-causing gene. Carriers usually have no signs or mild signs of the
disease
carrier testing Test (usually performed on genetic material) to determine if an individual
is a carrier of a specific condition
clinical supervision
A formal arrangement in which the health professional meets with
an experienced colleague to reflect on case management and/
or professional issues. The aim is to enhance the competence and
professional development of the practitioner and so contribute to patient
safety
counselling supervision
A formal arrangement in which the counsellor meets with an
experienced counselling supervisor to reflect on his or her work. The
focus of supervision is the relationship between the counsellor and
client. The aim is to enhance the self-awareness of the counsellor and
the way in which his or her values, beliefs and experiences may have an
impact on the relationship with the client
G6PD
Condition in which the individual has a deficiency of the enzyme glucose6-phosphate dehydrogenase, or G6PD, which contributes to normal
function of red blood cells
genetic
Pertaining to the influence of genes
genomic
Pertaining to the influence of genes interacting with other genes and/or
environmental factors
newborn screening
Test offered to determine the likelihood of a newborn being affected by a
genetic condition
preimplantation genetic diagnosis
In vitro fertilisation procedure wherein 1-2 cells from the very early
embryo are removed and tested to determine if it will develop into an
affected or unaffected individual. Only embryos that would be unaffected
are implanted into the uterus
prenatal diagnosis
Any procedure involving diagnosis of a genetic condition in the fetus
Links to key documents
1. http://sct.screening.nhs.uk/nursing-framework
Competency framework for the clinical nursing care of patients with
sickle cell and Thalassaemia. This framework was developed by a group
of expert nurses, clinicians and patients with the support of the SC&T
Screening Programme. The competences were accredited by the Royal
college of Nursing in November 2010 and jointly published by the RCN
and SC&T Screening Programme in March 2011.
2. http://www.kcl.ac.uk/teares/nmvc/external/prospectus/
course_info.php?code=118
Information about the Genetic Risk Assessment and Counselling training
module run by King’s College London School of Nursing as an accredited
course with 30 credits at levels 6 and 7. This university course has
replaced the so called un-accredited “PEGASUS course” previously run
by the SC&T Screening Programme.
3. http://www.kcl.ac.uk/teares/nmvc/external/prospectus/
study_info.php?code=KSHAE_
Information about the study days run by King’s College London School
of Nursing for giving newborn screening results to parents, including
those newborns who are carriers of sickle cell, Thalassaemia or other
haemoglobinopathy variant.
4. http://sct.screening.nhs.uk/
Website of the NHS Sickle Cell & Thalassaemia Screening Programme
which gives full information about antenatal and newborn screening
for sickle cell & Thalassaemia, including the Programme objectives,
screening policies, quality assurance and data reports.
5. http://sct.screening.nhs.uk/standardsandguidelines
Included in the Screening programme website are the standards and
guidelines for:
(a) Screening (antenatal and newborn) for SC&T
(b) Handbook for Laboratories screening for SC&T
(c) Clinical care of children with sickle cell disease
(d) Clinical care of adults with sickle cell disease
(e) Clinical care of adults and children with Thalassaemia.

Genetic counselling: Learning resources

Transcription

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