Introduction to Genetic Counselling Flashcards
What is 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
What types of cases are seen in a genetic counselling clinic?
- diagnostics
- generic mendelian conditions and chromosomal conditions
- family history of cancer
- specific clinics for certain conditions
- prenatal clinics
What types of information are gathered upon consultation?
- medical and social history
- family history, including ages at diagnosis
- confirmations of diagnoses and genetic test reports
What information is given to the patient at consultation?
- information about the condition
- inheritance patterns
- occurrence/recurrence risks
What types of choices are discussed during consultation?
- whether or not to have a genetic test
- screening options
- reproductive options
How must the genetic counsellor act when with a patient?
they must be non-judgemental and non-directive
How can grief and loss interfere with genetic counselling?
many families referred to genetics have had to cope with recent bereavement or loss
many families have expectations from the media as to what genetics can offer
What types of issues surround grief and loss around pregnancy?
- infertility
- recurrent miscarriages
- prenatal diagnosis
- termination of pregnancy
- loss of planned parenthood
What types of issues surround grief and loss around childhood and adolescence?
- birth of a handicapped child or loss of the perceived child
- loss of an infant
- loss of a young adult
- illness of a parent
What types of issues surround grief and loss in adulthood?
- genetic testing following confirmation that they have inherited a faulty gene or notice symptoms
- genetic testing may lead to a person confront surgery
- survivor guilt if they get a good predictive result
When can family dynamics get in the way of genetic counselling?
- old wounds and concealed hatreds become expressed
- refusal to give consent for medical information
- refusal to tell other family members a diagnosis
What can some issues be surrounding trans-cultural genetic counselling?
- consanguinity needs to be understood for its cultural importance
- belief and disbelief about science, invasive testing
- pressures to have children
- communication in correct language
What types of things are discussed with someone who has a family history of cancer?
- predictive/diagnostic testing
- screening options
- surgical options
Why are BRCA mutations screened for?
they are tumour suppressor genes and a mutation gives an increased risk of breast, ovarian, prostate, pancreatic cancers and melanoma
What types of cardiac conditions may be screened for and have genetic counselling?
- cardiomyopathies
- chanellopathies
- sudden death
- syndromic
these are all inherited conditions
