Alle colleges van het van Genetics and Public Health uitgewerkt aan de hand van de leerdoelen. Ik heb het tentamen met een 8.8 gehaald met deze aantekeningen
Lecture 1: Meet and Greet Mendel
- Explain the principles of monogenetic (Mendelian) inheritance and illustrate them with examples
- Draw a family tree using information about a family and calculate the risks of suffering from or
passing on an inherited disorder
o Autosomal Dominant Inheritance Pattern (assume heterozygous)
Homozygous dominant rare
All children affected
Characteristics
Several generations affected
On average 50% of children of affected parents are also affected
Inheritance from man to woman, from man to man, from woman to
man and from woman to woman
Examples
Huntington disease 100% penetrant always get the disease
BRCA1 &2 60-80% penetrant
Lynch syndrome
Achondroplasia (dwerggroei)
o Autosomal Recessive Inheritance Pattern
Characteristics
On average, if both parents are carrier, a quarter of their children are
affected
o Families in which none of the children are affected, but both
parents are carrier, are not observed
Sometimes parents are consanguineous higher incidence
Usually just 1 generation
Examples
Cystic Fibrosis
Hemoglobinopathies sickle cell anemia/thalassemia
Phenylketonuria (PKU)
o X-linked recessive transmission
Characteristics
Sons are affected
Women are (usually) not affected carrier pass on predisposition
No inheritance from man to man (pass on y-chromosome)
Examples
Duchenne Muscular Dystophy
Hemophilia A & B impaired blood clotting
Color blindness
Lecture 2: Genes and Diseases
- Explain what is meant by genetic variation
- Describe the following classification of genetic diseases using an example
o Chromosomal disorders
Numerical or structural changes (0.6% live born)
Mostly affect autosome
In general
Loss of chromosomal material is more dangerous than gain
Abnormalities of sex chromosome is better tolerated than autosomal
1
, Usually origin de novo
Examples
Down syndrome trisomy 21
Klinefelter XXY (extra X)
o Monogenic disorders
Most follow Mendelian pattern of inheritance single genes
Some exceptions HC4 More than Mendel
Mechanisms of single gene disorders
Enzyme defects inborn errors of metabolism
o Material to be degraded builds up in certain cells in the body
causes problems
o Example Tay-Sachs Disease
Defect in membrane receptors/transport systems
o Example Familial Hypercholesterolemia
Alterations in structure, function, or quantity or non-enzyme proteins
o Example Marfan syndrome
Genetic variants leading to unusual drug reactions
o Example Cytochrome P450 enzymes
o Mendelian subsets of common diseases
o Multifactorial and complex disorders
Frequent ±10% lifetime risk
Most common disorders are multifactorial asthma/arthritis/dementia
Multi- or polygenic >1, each convey low risk
And environmental factors
Complex interactions between gene & environment
Lecture 3: Public Health and Genetics
- Explain the definition of public health genomics
o The responsible and effective translation of genome-based knowledge and technologies
into public policy and health services for the benefit of population health
o Sometimes conflicting principles best health outcome vs freedom to choose
o Difference genetics and genomics
Genetics study of genes and their roles in inheritance: the way that certain
traits or conditions are passed down from one generation to another
Genomics study of all of a person’s genes (genome), including interactions of
those genes with each other and with the person’s environment
o In 2000 first genome sequenced
Knowledge available
Important moment in political terms
o Cost of the genome dropped most costs now in the analyzing of the genome
o Future prevention advice?
Stratify per risk group not yet
o Bench or bedside?
2
, Much knowledge in the lab, but patients don’t always profit from it
Translation is needed scientific findings to health care
- Explain how the benefit of the individual plays a role in public health genomics, clinical genetics
and community genetics
o Genetics in medicine
Individualism & autonomy insurance payment
Goal empower counselees
Outcome informed choice/personal control
Primary care
GPs/midwives/child health centers
Get most (simple) questions
However
o Genetic knowledge relevant for primary care not adequate
o Fast developments
o Often not “core business”
Clinical genetics
Medical specialty
Diagnosis/prognosis/recurrence risk?
o Cancer in family, young age, often same type
o Counselee has (hereditary) disorder
o Child does not develop adequately (physical
abnormalities/intellectual disability)
Involves few people
Complex decisions eg:
o Have (more) children or not?
o Prenatal diagnosis and selective abortion?
o Have both breasts removed?
Helping people make a choice that suits their moral considerations
and/or what they consider important in life informed decision making
Genetic testing guidelines
Counseling, support
Psychological consequences of testing
Family issues
Issues of genetic discrimination
Usually genetic counseling with testing, but number of tests is
increasing
o Result of large-scale genomic research
From single gene (Mendelian) conditions to common
complex conditions
Extending scope of testing in health care
o From reproductive tests to predictive testing
o From reproductive decision making to personal risk reduction
o From rare monogenic to common complex diseases
o From families to large sections of healthy populations
o Public health
Collectivism & paternalism government funding
Goal promote health and prevent disease
Outcome uptake/compliance/decrease number affected/economic benefits
The focus in on populations > individual
Human diseases result from gene-environment interaction possibilities for
disease prevention
Translating research into practice and services close the gap
- Explain optimistic visions on genomic medicine and give arguments against optimism
3
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