Lecture 1

Question 1

Human Genetics

Answer 1

the science of heredity and variation in humans.

Question 2

Medical Genetics

Answer 2

the subset of human genetics that is important in medicine and medical research

Question 3

Molecular Genetics

Answer 3

the study of the structure and function of individual genes

Question 4

Clinical Genetics

Answer 4

the application of genetics to diagnose and patient care. applied to individuals and families.

Question 5

how do genetics disorders arise?

Answer 5

when a gene does not perform its normal function

Question 6

what is the study of genes and their function about?

Answer 6

the relationship between genotype and phenotype

Question 7

what is 100K?

Answer 7

government lead programme aiming to map 100,000 NHS patient gene.

Question 8

what are the types of genetic disorders?

Answer 8

• single gene
• chromosomal
• mitochondrial
• imprinted

Question 9

what are genetic biomarkers?

Answer 9

tests (e.g. blood test) to determine the risk of being predisposed to a genetic disorder. this can be used in cancer profiling

Question 10

what is pharmacogenetics?

Answer 10

variations in drug response is linked to genetic variation. pharmacogenetics can determine whether a drug will be beneficial to a person based on their genetics.

Question 11

Give example of a drug which works best for patients with a particular expression of genes.

Answer 11

IMATINIB (GLEEVEC)
- drug for leukaemia 
-works on best on a specific mutation
FACTOR IX
-replacement clotting factor for Haemphilia B
-a specific gene intervention

Question 12

Reason to refer a child to clinical genetics

Answer 12

• birth anomalies
• malformation
• Dysmorphic features
• learning difficulties

Question 13

Reasons to refer an adult to clinical genetics

Answer 13

• diagnosis
• predictive testing
• carrier testing
• family history (cancer)

Question 14

reasons to refer a pregnant lady to clinical genetics

Answer 14

• known genetic disorder in family
• abnormality detected in screening
• fetal loss or recurrent miscarriage

Question 15

what is the role of a family tree in genetic diagnosis?

Answer 15

detect a pattern of inheritance

Question 16

what is the role of physical examinations in genetic diagnosis?

Answer 16

to direct testing and inform precise diagnosis

Question 17

what do genetic tests involve?

Answer 17

chromosome - karyotype

Genes- DNA testing

Question 18

what are the non-genetic tests used in diagnosing genetic disorders?

Answer 18

• blood test

- X rays

Question 19

what is enzyme assays (non-genetic test) used to diagnose?

Answer 19

Inborn errors of metabolism

Question 20

what is Haematology (non-genetic test) used to diagnose?

Answer 20

Thalassaemia

Question 21

what is X-rays used to diagnose?

Answer 21

skeletal dysplasia (achondroplasia)

Question 22

what types of genetic tests are used to diagnose disorders involving genetic architecture?

Answer 22

• Cytogenetics

- Array based techniques

Question 23

what types of genetic tests are used to diagnose disorders involving genetic faults?

Answer 23

• sequencing
• OLA assays
• MLPA tests

Question 24

why are diagnostic testing useful?

Answer 24

• finds exact cause

answers both specific and broad questions

Question 25

why are predictive testing useful?

Answer 25

Testing based on predisposition (e.g. Family). when the disorder is not clinically visible and would therefore effect individual’s life.

Question 26

why are carrier testing useful?

Answer 26

testing for recessive disorders including autosomal and X-linked

Question 27

why are prenatal testing useful?

Answer 27

Preventative genetic disease. tests on amniotic fluid, chorionic villus sampling

Question 28

what are the advantages and disadvantage of genetic tests?

Answer 28

Advantage:

• early diagnosis = early intervention
• carrier testing = reproductive choices
• prenatal testing = reproductive choices

disadvantages:
- discover disorders which may be un-treatable and affect patient’s quality of life e.g. alzeimers

Question 29

what is genetic counselling?

Answer 29

an education process that seeks to assist affected (or at risk) individuals to understand genetic disorder, how it is transmitted, and treatment and management options (prognosis ) and family planning

Question 30

pharmacogenomics

Answer 30

analysis of entire genomes across groups of individuals the genetic factors influencing responses to a drug

Question 31

pharmacogenetics

Answer 31

studying an individual’s genetic make-up to predict responses to a drug and guide prescription. Example: cancer