- Introduction
- Penetrance
- ACCE
- Patents
- Moral Theories
- Pharmacogenomics
- DNA Test Methods
- Disease Susceptibility
- Twin Adoption Studies
- Informed Consent
- Clinical Utility
-
These works are licensed under a
Creative Commons Attribution-Noncommercial-
Share Alike 3.0 Unported License
Developed in collaboration with the Centre for Applied Research in Educational Technologies (CARET).
Penetrance
This module explains what is meant by penetrance and how the penetrance of a mutation can be calculated. The concepts of complete, incomplete and lifetime penetrance are explained.
ACCE
This module describes a framework for evaluating genetic tests – the ACCE framework. Each component of the framework is examined: the disorder and the setting where the test is being used, the analytical validity, the clinical validity, the clinical utility and ethical, legal and social aspects of the test.
Patents
This module explains what a patent is and the benefits and disadvantages of patents. It examines the criteria that an invention must meet to be patentable – novelty, non- obviousness, being useful and how it is disclosed. It presents what can and what cannot be patented.
Moral Theories
Moral theories are the frameworks we use to justify or clarify our position when we decide what view or what actions to take. The module describes 3 moral theories of relevance to public health genomics – consequentialism, deontology and bioethics.
Pharmacogenomics
Pharmacogenomics concerns the genetic influences on an individual’s response to drugs. This module examines the ways that genes influence the way that individual responds to drugs and looks at the pharmacokinetic and pharmacodynamic properties of drugs. Advances in this field are considered, in particular the use of pharmacogenetic knowledge in cancer therapeutics.
DNA Test Methods
This module examines the techniques that have been developed for detecting, copying and sequencing DNA. It describes the processes of hybridisation, fluorescent in situ hybridisation (FISH), polymerase chain reaction (PCR) and DNA Sanger sequencing. It concludes with information on how DNA microarrays are undertaken and their applications.
Disease Susceptibility
This module describes the types of studies that are undertaken to investigate which genes are involved in particular disease causation. Linkage studies and gene-disease association studies are explored and the advantages and disadvantages of these types of studies.
Twin Adoption Studies
Twin and adoption studies have been used to assess the genetic contribution as compared to the environmental contribution to disease causation. The value of comparing monozygotic and dizygotic twins is examined as well as the advantages and disadvantages of twin studies. Similarly the reasons for undertaking adoption studies are explored and the advantages and disadvantages of these studies.
Informed Consent
Consent is a basic component of many types of everyday encounter. This module examines the history of the notion of informed consent, why there is a need for informed consent and the different types of consent. It also investigates which type of consent is required for different situations. It describes the different parts of the informed consent process.
Clinical Utility
Clinical utility refers to the likelihood that genetic information will lead to an improved health outcome. The following aspects of clinical utility are considered - the effectiveness of the available interventions, the social consequences of the genetic information and the economic implications of genetic testing and follow up.
About the Interactive Tutorials
We have prepared ten short animated tutorials covering some of the basics of public health genomics and genetic testing. The tutorials are all stand-alone modules, which can either be watched independently or as part of series.
These tutorials have been developed on an experimental basis in order to explore the possibilities of this medium. We welcome any feedback you have: each module ends with a form for this purpose.