Predictive testing and Genetic Counselling Flashcards
what is Huntington’s disease (basics)
progressive neurodegenerative
motor (movement), cognitive (memory loss and dementia) and psychiatric (depression, anxiety aggression etc) disturbances
mean onset 35-44 mean survival 15-18 years
what are the genetics behind Huntington’s
autosomal dominant disorder, complete penetrance
HTT gene 4q13.3
mutation = CAG (polyglutamine) repeats of more than 40
why is testing for HD unique
predictive - patient is still well - knowing about future
about 50% drop out of getting tested
what reasons are there for getting HD tested
want to know plan future care plan career make decisions about kids informs relatives at risk
what will testing for HD tell you vs not tel you
will - complete certainty about getting the illness
children will or won’t be at risk
won’t - age of onset, speed of onset, types of symptoms
what does one need to consider when getting tested for HD
psychological impact
advantages and disadvantages of knowing
impact on current relationships
insurance
what is the treatment or HD
only symptomatic treatment no preventative measures or cures
testing does not save those lives
what is genetic counselling
communication process which deals with ham problems associated with the occurrence or the risk of occurrence of a genetic disorder in a family
what is the role of the genetic counsellor
help families to understand the disease, including diagnosis, how to deal with it, future course of action, helping with life adjustments
what are the specific aims of genetic counsellor
non-judgmental of decisions and non-directive
what disease is associated with infertility
klinefelters
what issues should the genetic counsellor be aware of with patients
loss and grief guilt and blame family myths and beliefs (culture and religious belief) confidentiality and informed consent distress
what type of mutation should be assessed for family history of cancer
BRCA mutation - increased risk of breast, ovarian, prostate, melanoma
