Introduction to medical genetics and clinical genetics in SA Flashcards
What is the difference between medical geneticist and a genetic counsellor
A medical geneticist is a doctor who specialize in diagnosing and treating genetic conditions ,help the family of the affected or at risk of of the inherited disease to make informed decisions ; interpreting results of a genetic test and being an interface between the lab and the patient whereas a genetic counsellor is a medical scientist with masters degree in genetics, who help individuals and their families affected by the hereditary conditions to understand and adopt to the implications of genetic contributions (EFFECTS ) of the disease
What is medical genetics ?
A branch of medicine that involves the diagnosis and management of hereditary diseases ,it incorporates gene therapy ,personalized medicine and predictive medicine
Who in the prenatal sphere should be referred to a medical / genetic counsellor ?
7 marks
- Advanced maternal age
- Abnormalities detected on prenatal screening diagnosis
- Consanguinity
- Family history of genetic disorder
- Pre-implantation genetic diagnosis
- Multiple misarranges
Who in the pediatrics sphere can we refer to a MG or GC ?
- congenital abnormalities
- Disorders of sexual determination
- delayed development
- Syndromic epilepsy
- Growth abnormalities
- hematological diseases
Who in the adult sphere can we refer to GC / MG ?
- Connective tissue disease
- Ophthalmologic diseases
- cardiomyopathy
- Adult onset / neurological diseases
- Hereditary cancer suspected / family history
- genetic carrier testing
What does a typical medical genetic consultation entail ?
- History pedigree
- Clinical examination
- Special investigation
- Genetic counselling ( to explain the effect of the disease ,hw to adapt to the disorder)
- Psycho-social support
What is a family pedigree and what is it used for ?
A family pedegree diagram is a record of medical and biological data about a family with respect to the inheritance of the genetic condition .It establishes a pattern of inheritance of a condition
what is the use of a pedigree diagram
- It is used to calculate risks associated with inheriting a disorder in the family .
- It is also used to determine genetic testing strategies as well as reproductive options related to the condition
- Develop patient rapport
- Used to determine if the patient understands their genetic health history ,educate the patient about their genetic conditions and patterns of inheritance
What are the special investigations used in GC ?
- blood tests
- X-rays
- MRI/ Ct SCANS
It is focused on whether a specific genetic investigations help confirm a suspected diagnosis
T/F : genetic tests can be required by anyone
false, Genetic tests can only be requested by someone qualified to interpret the test results and explain them in a meaningful way to the patient
