Lecture 4: What does a geneticist do? Flashcards
Define Human genetics.
the science of heredity and variation in humans
Define medical genetics.
the subset of human genetics that is important in medicine and medical research
Define molecular genetics.
the study of the structure and function of individual genes
Define clinical genetics.
the application of genetics to diagnosis and patient care (in individuals and families)
What relationship is the study of genes about?
Genotype and phenotype
What leads to a genetic disorder?
when a gene does not perform its normal function correctly.
What are types of inherited genetic disorders?
Single gene
Chromosomal
Mitochondrial
Imprinted
What are genetic biomarkers of diseases used for?
Cancer profiling
Empirical risk factors.
What are common in clinical genetics in children?
Birth anomalies — malformations
Dysmorphic features
Learning difficulties
What are common in clinical genetics in Adults?
Diagnosis
Predictive testing
Carrier testing
Family history (including cancer)
What are common in clinical genetics in Pregnancy?
Known genetic disorder
Abnormality detected on screening
Fetal loss or recurrent miscarriages
What three things are involved in making a genetic diagonosis?
- Family tree - to detect pattern of inheritance
- Clinical examination - to define phenotype and inform Labatory testing
- Diagnostic tests - non-genetic and genetic.
What are some non- genetic tests for genetic disorders?
Blood tests
Enzyme assays
Inborn errors of metabolism
Haematology
X-rays
Skeletal dysplasia
Achondroplasia
What are some genetic tests for genetic disorders?
Genomic architecture
Cytogenetics
Array-based techniques
Gene faults
DNA sequencing
Other methods
e.g. MLPA
Targetted
Specific questions
Global
Karyotype, WGS, exome
Advantages of genetic testing:
Early diagnosis
Early interventions
e.g. deafness
Carrier testing
Reproductive choices
Prenatal testing
Reproductive choices
