Medical Genetics
General competencies
1. Identify and provide all aspects of pretest and counseling in patients with the
necessary indications.
2. Understand and ascertain relevant genetic environmental and behavioral risk
factors
3. Understanding and sensitivity to philosophical, religious, cultural, and ethical
beliefs and biases of patient, family, and society regarding genetic information.
4. Understand the social and psychological implications for individuals and
families of genetic information.
5. Know indications for referral to medical genetics health care providers.
Topics
1. Basic human genetics terminology
2. Principles of human and medical genetics
3. Basic patterns of biological inheritance and variation
a. Within families
b. Within populations
4. The importance of the three generation family
a. Difference between a pedigree and genogram
5. Appropriate history and physical exam
6. Role of genetic factors in health maintenance and disease prevention
7. Difference between clinical diagnosis and genetic predisposition to disease
8. Role of behavioural, social and environmental modifiers in the manifestation
of genetic disease
9. The indications and resources for genetic testing and referral to genetic
specialists.
10. Educating patients about the range of emotional effects they and/or family
members may experience as a result of receiving genetic information
11. Safeguarding the privacy and confidentiality of the genetic information of their
clients
12. Influence of ethnicity, culture, related health beliefs, and economics in
diagnosis and in the ability of the patient to use genetic information and
services.
13. The potential physical and/or psychosocial benefits and risks of genetic
information for patients, families, and societies
14. Genetic approaches to treatment of disease (including pharmacogenomics and
gene therapy).
15. Appropriate selection and use of new information technologies to obtain
current information about genetics
16. The history of misuse of human genetic information (eugenics)
17. Ethical, legal and social issues
a. Screening for genetic abnormalities
b. Prenatal-preconception testing
c. Pre-symptomatic genetic testing
d. Carrier testing for genetic disorders
e. Confidentiality
f. Risk assessment
g. Responsibility to inform
h. Discrimination issues (e.g., insurance coverage, employment)
i. Informed consent
References:
1. American Academy of Family Physicians. (2008). Recommended Curriculum
Guidelines for Family Medicine Residents, Medical Genetics (Reprint No.
278), Leawood, Kansas.