Sue Kenwrick

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

sue.kenwrick@addenbrookes.nhs.uksue.kenwrick@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