What is genetic counselling?

The process by which patients or relatives at risk of a disorder that may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it, and of the ways in which this may be prevented, avoided or ameliorated

Genetic counsellors
Clinical Geneticists
Genetic Nurse Specialists Genetic Associates (Science graduates)

Counsellors in specific areas (Haemophilia etc)

Should all healthcare professionals be able to

communicate genetic issues?

Genetic Testing
Identification of disease genotype in a family
Identification of a genetic disease in a family?

Pre-symptomatic Testing
Identification of a genotype before a phenotype

develops
HD trinucleotide expansion

Identification of a marker of a disease before

symptoms develop
High cholesterol in hypercholesterolaemia Renal cysts in adult polycystic kidney disease

Is the disease worth testing for?

Can we predict the course of the disease? Can we improve treatment? Can we affect outcome? Is termination of pregnancy justified?

 Has the genetic change been identified? In the condition? In the family? Is the test accurate and reproducible? Is there a lab that will perform the test? GENETIC TESTING IS NOT AVAILABLE FOR MOST SINGLE GENE DISORDERS

Do we have an appropriate test?

HD as a model for Pre-symptomatic testing

Highly sensitive and specific diagnostic test Fully penetrant disease Relatively consistent clinical course

Pre-enrollment appointment Pre-symptomatic testing protocol

Confirm diagnosis in affected relative Draw up family tree General discussion about HD

First Appointment
Discuss basis of test Assess knowledge of HD Review information

Second Appointment
Why are you having the test now? What are the benefits of a result positive or negative? Who else is likely to be affected by your result? Check knowledge base

Third Appointment
How have you coped with major life changes in the past? How will you get the result? Who will you share it with? Blood taken at this appointment

Results
A firm date for result is given when the blood is taken Result given in clinic or at home Contact arranged for 2-4 weeks and then negotiated

CADASIL dominant disease - mutations in Autosomal

NOTCH gene Recurrent strokes and resulting disability Migraine may occur 10 years before onset of strokes Variable clinical course but penetrance nearly complete Often associated with a characteristic MRI scan

Letter to neurologist
This 24 year old woman has been complaining of

headache for the past 2 years. The headaches are associated with visual aura and vomiting. She is the main carer for her 52 year old wheelchair-bound mother.

Neurology appointment
Symptom history strongly suggestive of migraine
Family history - stroke in mother and maternal uncle Could be CADASIL - MRI scan ordered to confirm

Letter to geneticist
This 24 year old lady has a strong family history of

stroke. Her mother is wheelchair-bound at 52 and her uncle died at 47. Apart from intermittent migraine she is in good health.

Genetic Clinic Appointment

Family history suggestive of CADASIL
Migraine may be associated but also common in the

general population - not necessarily symptomatic of CADASIL Discussion of genetic testing (sample from mother to look for mutation) Pre-symptomatic protocol explained

Discussion
Is MRI a pre-symptomatic test in this situation?
Which approach is better? Could you combine approaches?

 Why do we place so much more emphasis on gene

testing compared with other clinical testing?

Treatable v non-treatable
What sort of protocol should we have for:
Huntingtons disease Breast cancer

Bowel cancer
Polyposis coli

Hypercholesterolaemia (high blood cholesterol levels)

Some people have a dominantly inherited mutation

leading to high cholesterol Some have a genetic susceptibility to high cholesterol We can all have high cholesterol if we dont eat a decent diet. Drug treatments are expensive

Is Hypercholesterolaemia a genetic problem or a social problem?

Does genetic testing have a role? Do you eat a good diet?
If not, would genetic testing make you improve it?

Statins are a class of drug that improve outcome in all forms of hypercholesterolaemia
Should they be available to everyone or just individuals

with LDL receptor mutations?

Genetic susceptibility
What would you do if you were told that your risk of

developing diabetes was twice the population risk Change diet? Exercise? Panic? Nothing?

Data Protection
Confidentiality
Individual rights versus social responsibility Who owns genetic information?

Martin (DMD) 1.
Martin was diagnosed at 2yrs with DMD following

investigation for developmental delay. A dystrophin deletion is demonstrated in both Martin and his mother Sue. Sue has 2 younger sisters neither of whom is in a stable relationship. Her mother died in a car accident and there is little contact with the extended family.

Martin (DMD) 2
Sue who has a history of depression feels very guilty

about being a carrier of DMD. Her husband phones the department to say that they wish no further contact from genetics. He says Sue has told her sisters that there is a genetic test available and they are not interested but may make contact later.

Martin (DMD) 3
Sues cousin Carol attends another Genetic

Department after a friend tells her about the diagnosis in Martin.

How can information be shared?

Martin (DMD)

CAROL

SUE MARTIN