Professional Documents
Culture Documents
Genetic Counseling 1
Genetic Counseling 1
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)
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
symptoms develop
High cholesterol in hypercholesterolaemia Renal cysts in adult polycystic kidney disease
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
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
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.
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?
Treatable v non-treatable
What sort of protocol should we have for:
Huntingtons disease Breast cancer
Bowel cancer
Polyposis coli
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
Statins are a class of drug that improve outcome in all forms of hypercholesterolaemia
Should they be available to everyone or just individuals
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
Martin (DMD)
CAROL
SUE MARTIN