Patient Care - Students will demonstrate an ability to:

• Order relevant diagnostic tests;
• Provide patient-focused individualized care of individuals of all ages and socio-demographics;>

A single one hour didactic lecture is provided with the title “Molecular Diagnosis”.  This lecture introduces students to the various molecular biology tests that are used to diagnosis genetic disease and mutation.

This is fulfilled by the following lecture objectives:

• describe possible uses of molecular diagnosis in the context of human disease
• differentiate between direct and indirect methods of mutation detection
• explain the circumstances which dictate whether direct or indirect molecular diagnosis can be used.
• outline the laboratory techniques that are used in molecular diagnosis
• Linkage analysis
• PCR methods
• gene sequencing
• indel detection
• appreciate the costs, benefits and limitations of molecular testing
• appreciate the factors to be considered in interpreting the results of molecular testing
• explain how linkage analysis leads to the production of genetic (linkage) maps
• outline how linkage analysis is used in the indirect detection of a mutation

As a result of the human genome project and a better understanding of the contribution of genetic variation to human disease we are fast approaching a time when physicians will be able to offer “individualized medicine”.  That is, medical diagnosis, treatment, and prevention based upon what makes each individual different – genetic variation. 

This material is provided in a single didactic lecture with the title, “Omics, pharmacogenetics and the future”.   The lecture focuses primarily on how to identify genetic variation and its effect on drug metabolism:  pharmacogenetics or pharmacogenomics.

This is fulfilled by the following lecture objectives:

• outline the role of pharmacogenetics in therapeutics
• give examples of current examples of pharmacogenetics in practice
• explain what is meant by “individualized medicine”

 

Medical Knowledge – Students will demonstrate medical knowledge sufficient to:

• Formulate cases and develop differential diagnosis;
• Actively use knowledge to solve problems;
• Develop strong fund of knowledge of pathology and pathophysiology;

Three didactic lectures are provided to allow students to identify which mode of genetic inheritance is found for particular genetic trait or disease.   All modes of inheritance are covered in the course and students are taught how to identify these modes of inheritance using family history and pedigree analysis. In addition, students are taught how to calculate genetic risk for offspring of a particular family pedigree.

This is fulfilled by the following lecture objectives:

• interpret a family pedigree incorporating standard genetic symbols.
• outline the characteristics of the following patterns of inheritance: autosomal dominant, autosomal  recessive; X-linked dominant and X-linked recessive.
• explain how disease liability is transmitted for autosomal dominant diseases
• demonstrate how disease liability is transmitted for autosomal recessive diseases
• explain how liability is transmitted for X-linked diseases
• outline how the basic risk calculations are performed for the different categories of genetic transmission.
• determine a strategy for identifying these disorders, investigating them and providing appropriate genetic counselling for the families

Students are also taught how to determine genetic liability to a disease or disorder by using population frequency data.

• calculate the probability that an individual is a carrier or a homozygote for an autosomal recessive trait:
• in general pedigrees.
• in pedigrees exhibiting consanguinity.

Student are required to understand specific details of the following genetics disorders.  These include the mode of inheritance, genes involves, diagnostic methods, and pathology.  This list comprises important representative examples for each mode of inheritance:

Topic	Disease/syndrome
Autosomal Dominant	Huntington disease
Autosomal Dominant	Achondroplasia
Autosomal Recessive	Cystic fibrosis
Autosomal Recessive	Sickle cell anemia
X-linked Recessive	Duchenne muscular dystrophy
X-linked Recessive	Hemophilia A
Non-Mendelian	mitochondrial
Non-Mendelian	Angelman, Prader-Willi
Cytogenetic abnormalities	Down syndrome
Cytogenetic abnormalities	Angelman and Prader-Willi
Cytogenetic abnormalities	Turner syndrome
Inherited cancers	Breast/ovarian cancer
Inherited cancers	Colorectal cancer
Multifactorial inheritance	Diabetes
Multifactorial inheritance	Hypertension

Lastly, students are informed of the relationship between the general physician and genetic counselor, as well as the role of the gene counselor. 

This is provided in a single lecture entitled:  Screening, counseling and ethical issues.

This is fulfilled by the following lecture objectives:

• define "genetic counselling"
• describe
• the patient groups most in need of such counselling
• the optimum times for its provision
• the resources required for genetic counselling
• explain the importance of an accurate diagnosis
• understand how the estimation of recurrence risks is used in answering questions posed
• appreciate the need to provide appropriate assistance in the decision-making process of patients