The Genetic Counsellor: The Genetic Counsellor: Sue Kenwrick PhD Sue Kenwrick PhD Genetic Counsellor Genetic Counsellor Department of Medical Genetics Department of Medical Genetics Addenbrooke’s Hospital Addenbrooke’s Hospital [email protected][email protected]Tel: 01223 216446 Tel: 01223 216446
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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
'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
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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