The Genetic Counsellor:The Genetic Counsellor: Sue Kenwrick PhDSue Kenwrick PhD
Genetic CounsellorGenetic Counsellor
Department of Medical GeneticsDepartment of Medical GeneticsAddenbrooke’s HospitalAddenbrooke’s Hospital
[email protected]@addenbrookes.nhs.ukTel: 01223 216446Tel: 01223 216446
Genetic Counselling
'a communication process which deals with human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family. ….’
Content
• My career path
• What genetic counselling involves
• Skills and qaulifications required
The Journey
B.Sc. Genetics
Ph.D. Cancer
Postdoctoral research – molecular biology and human genetics
PI/Lecturer - finding genes for human disease
20 years as a scientist,
I wanted a change
Genetics
Global view, not specific
Team work
Impact of genetics on health, mental and physical
?Could I become a genetic counsellor?
Requirements of a new job
Clinical Genetics Service:
East Anglian Regional Genetics Service Addenbrooke’s Hospital.
The Team:
Medical Genetics Consultants and Registrars
Genetic Counsellors -nursing or academic background with genetic counselling training
Molecular diagnostic and cytogenetic laboratories.
Where is Genetic Counselling Done?
Skills attained: Skills required:
Genetic knowledge Counselling patientsTeaching Health serviceSupervision
Solution:
Obtained Certificate in counselling (general)Obtained a Genetic counsellor training positionM.Sc. in Genetic counselling -GOAL
Genetics is a Family Affair
Affected individuals: Diagnosis and Clinical Care
Affected and unaffected individuals: Genetic Counselling
Genetic Counselling 1
Information gathering
• Developing a family tree inc. ethnicity
• Finding out how much people understand
• Experiences within the family
• Finding out what they need or expect
• Getting a view of family relations and culture
Genetic Counselling 2
• the clinical aspects of the condition
• the inheritance pattern
• implications for other family members
• the chance of recurrence
• the tests/options available to them
Information giving -
Genetic Counselling 3
• Information not advice
• Empowering individuals so that they can:
-Make informed choices that are right for them and their family
-Adjust to having a genetic condition in the family
Support
Example 1 - Cystic fibrosis
Amy 10y
Charles2m Cystic fibrosis
Counselling:
• Affect of the diagnosis• Chance of recurrence• Prenatal genetic
testing/PGD• Implications for other family members
Autosomal recessive, 1/2500 births
Example 2 - Breast cancer
Counselling:
• Affect of the diagnosis• Risk assessment• Genetic testing• Managing risk
•surveillance•surgery
• Implications for wider family• Family dynamics
60 62
33
?
Monica 30y
Skills Required
• Good understanding of clinical and genetic issues
• Good communication skills –translating genetics into lay language
• Sensitivity to a patient’s circumstances
• Good listening and observation (picking up cues)
• Ability to help patients explore their options and choices without being judgmental
• Dealing with emotional reaction
Emotional Reactions
numbness
Guilt
Low self esteem
Blame
Shame
Denial
Anxiety
Anger
confusion
Sorrow
Becoming a Genetic Counsellor
• AGNC website: www.agnc.co.uk
• Nursing or ‘caring services’– - then specialise
• Academic background– MSc in Genetic
Counselling – Experience in a ‘caring’
service
