Standard Format of Contributions: Head

Standard Format of Contributions: Head

TITEL

/ 4.1 Genetic Determination of Health
AUTHOR / Prof. Dr. Mirko Spiroski
ADDRESS FOR CORRESPONDENCE
(incl. fax and email) / Institute of Immunobiology and Human Genetics,
Institutes, Faculty of Medicine, 1109 Skopje, PO Box 60,
Republic of Macedonia
Tel.: +389-2-110556
Fax: +389-2-110558
e-mail:
KEYWORDS / Public Health Genetics, Syllabus
LEARNING OBJECTIVES
(expected outcomes) / The objectives of this course are to:
1.  learn and use the language of human genetics,
2.  engage in genetic critical thinking, and
3.  explore the interface between genetics and public health.
This 3-credit course will provide a introduction to the underlying scientific principles of human genetics and their correct applications in health care and basic research.

SYNOPSIS

/ The content covered in the subject 4.1 Genetic Determination of Health will include seven parts:
·  Part 1. GENETICS AND PUBLIC HEALTH: AN OVERVIEW
·  Part 2. PUBLIC HEALTH ASSESSMENT
·  Part 3. EVALUATION OF GENETIC TESTING
·  Part 4. DEVELOPING, IMPLEMENTING, AND EVALUATING POPULATION INTERVENTIONS
·  Part 5. GENETICS AND PUBLIC HEALTH: ETHICAL, LEGAL, AND SOCIAL ISSUES
·  Part 6. COMMUNICATION, EDUCATION, AND INFORMATION DISSEMINATION
·  Part 7. GROUP PROJECT

TEACHING METHODS

/ Each class will include a lecture portion that examines the individual and public health applications of the assigned reading. It is expected that students will spend approximately 9 hours per week completing course assignments individually and in their study group, including: reading, problem sets, exercises, Internet searches, and discussions.

SPECIFIC RECOMMENDATIONS

/ Students are expected to participate actively in class through discussion, questions, activities and group projects.
ASSESSMENT OF STUDENTS (type of examination) / Assignments will be made in advance and will include reading, activities and problem sets. Grades will be based on a 200 point scale with 120 points available from six 20-point quizzes scheduled throughout the semester, and one 80-point group project. There will be no cumulative examination and no make-up quizzes.
Quizzes (6 x 20 point) / 120 point / Group Project / 80 point

CONTENT

(basic knowledge, methods, case studies)

Part 1. GENETICS AND PUBLIC HEALTH: AN OVERVIEW

1.  Genetics and Public Health: A Framework for the Integration of Human Genetics into Public Health Practice.

2.  Genetics and Public Health: Historical Perspectives and Current Challenges and Opportunities.

3.  The Human Genome Project: Evolving Status and Emerging Opportunities for Disease Prevention.

4.  Models of Public Health Genetic Policy Development.

5.  The Multidisciplinary Nature of Public Health Genetics in Research and Education.

6.  Quiz 1.

Part 2. PUBLIC HEALTH ASSESSMENT

7.  Epidemiology, Molecular Biology, and Public Health.

8.  Surveillance for Birth Defects and Genetic Diseases.

8.  Surveillance for Hemophilia and Inherited Hematologic Disorders.

9.  Public Health Assessment of Genetic Predisposition to Cancer.

10.  Public Health Assessment of Genetic Susceptibility to Infectious Diseases: Malaria, Tuberculosis, and HIV.

11.  Public Health Assessment of Genetic Information in the Occupational Setting.

12.  Quiz 2.

Part 3. EVALUATION OF GENETIC TESTING

13.  Medical and Public Health Strategies for Ensuring the Quality of Genetic Testing.

14.  Newborn Screening Quality Assurance.

15.  Quiz 3.

Part 4. DEVELOPING, IMPLEMENTING, AND EVALUATING POPULATION INTERVENTIONS

16.  Public Health Needs Assessment for State-Based Genetic Services Delivery.

17.  Access to Genetic Services in the United States: A Challenge to Genetics in Public Health.

18.  Community Genetics in The Netherlands.

19.  Delivery of Genetic Services in Developing Countries.

20.  Genetics and Prevention Effectiveness.

21.  Impact of Genetic Information and Genetic Counseling on Public Health.

22.  Lessons Learned from Newborn Screening for Phenylketonuria.

23.  Newborn Screening for Cystic Fibrosis: A Paradigm for Public Health Genetics Policy Development.

24.  Newborn Screening for Sickle Cell Disease: Public Health Impact and Evaluation.

25.  Public Health Strategies to Prevent the Complications of Hemochromatosis.

26.  Applying Genetic Strategies to Prevent Atherosclerosis.

27.  Quiz 4.

Part 5. GENETICS AND PUBLIC HEALTH: ETHICAL, LEGAL, AND SOCIAL ISSUES

28.  Genetics, Public Health, and the Law.

29.  Genetics and Public Health: Informed Consent Beyond the Clinical Encounter.

30.  Public Health Surveillance of Genetic Information: Ethical and Legal Responses to Social Risk

31.  Quiz 5.

Part 6. COMMUNICATION, EDUCATION, AND INFORMATION DISSEMINATION

32.  Principles and Practices of Communication Processes for Genetics in Public Health.

33.  Training in Public Health Genetics

34.  Consumer Perspectives on Genetic Testing: Lessons Learned.

35.  Using the Internet to Disseminate Genetics Information for Public Health.

36.  Quiz 6.

Part 7. GROUP PROJECT

OBJECTIVE:
The over all objective of the project activity is to create the opportunity for students to examine the historic and current issues and controversies surrounding a specific genetic condition and to anticipate the medical and public health interventions and possible research opportunities that could be beneficial in the near future. Students will gain experience:

1.  working within a group to investigate, synthesize and present information on a specific genetic condition

2.  using the primary literature and consumer support and information resources

3.  examining the perspective of various disciplines on a genetics topic

4.  writing on and speaking about your own interpretations and conclusions

5.  defining future research and inquiry needs related to a specific genetic condition

6.  presenting one's work to peers

PROCESS:
Early in the semester everyone will be assigned to a group composed of between 4-6 students. Each group will then select their project topic from amongst a group of specified subjects. From this point on groups should plan to meet weekly for the duration of the semester to: design a timeline, assign tasks, report back, discuss and evaluate data and material relevant to the project, make contact with a relevant support group or consumer advocacy organization, prepare a written report and an oral presentation, conduct a practice presentation, and deliver a 30 minute presentation to the class during your scheduled time.

PROJECT CONTENT:
The completed project will consist of written, oral and evaluation components as described below:

Part 7.1. Written Paper

Produce a written report on the topic that is no longer than 10. pages and includes the following four sections:

1.  Summarize what is known about the basic genetic mechanism underlying this particular condition.

2.  Report the 'story' of the discovery of the gene/chromosomal basis for this condition and outline the impact of this discovery to date on public health care for this condition.

3.  Identify the psychosocial issues confronting those who are at-risk for or affected by this condition.

4.  Provide an annotated bibliography.

Part 7.2. Oral Presentation

The group should determine the number of presenters and organization of their presentation so that within the 30 minutes available they will cover the following:

1.  What amount of funds and from what sources are going into services, research, and education regarding this condition?

2.  Identify 2-3 priority issues or challenges facing providers, researchers or consumers interested in this condition.

3.  Examine this condition from the different public health perspectives.

Part 7.3. Evaluation

At the conclusion of the project each student will complete an intragroup evaluation of their work and the group's work.

Standard Format of Contributions: Appendices

RESOURCES recommended readings et al.)

/ Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease
Edited by MJ Khoury, W Burke, and E Thomson, Oxford University Press (2000)
REFERENCES (as in I-JPHE: alphabetic order, citation in the text by first author and year) / General Medical Genetic Textbooks
Gelerhrter TD and Collins, FS Principles of Medical Genetics, Williams and Wilkins, 1990
Korf B. 1996. Human Genetics: A Problem-Based Approach
Thompson MW, McInnes RR and Willard HF Thompson and Thompson Genetics in Medicine, 5th edition. W.B. Saunders, 1991.
Genetic Disorders
Jones K. Smith's Recognizable Patterns of Human Malformation, 5th edition, Saunders, ?1995 or 1996.
McKusick VM. Mendelian Inheritance in Man. (online version available)
Authoritative compendium on genetics and history of genetic disorders.
Rimoin DL, Connor JM and Pyeritz RE Emery and Rimoin's Principles and Practice of Medical Genetics, 3rd edition, Churchill Livingstone, 1997.
Scriver CR et al. The Metabolic and Molecular bases of Inherited Diseases, Seventh Edition, McGraw-Hill, 1995.
Stevenson RE, Hall J, Goodman R. Human Malformation and Related Anomalies.
Ethnocultural Issues in Genetics and Medicine
Fisher N 1997 Cultural and Ethnic Diversity. A Guide for Genetics Professionals. Johns Hopkins University Press: Baltimore, MD.
Special Issues in Cancer Genetic Counseling
Schneider K. 1996. Counseling about Cancer: Strategies for Genetic Counselors. National Society of Genetic Counselors: Wallingford, PA.
Genetics and Primary Care
Genetic Counseling: Your New Job - published in Febrary, 1995 in the American College of Physicians’ ACP Observer
Genetics and Your Practice - Training program for primary care providers published by the March of Dimes and the Washington State Department of Health (July, 1996)
“Genetics in Medical Practice: The Role of Primary Care Providers”, Gene Letter, Sept., 1996
Quality Improvement Training Manual - Genetics Services Sections, Washington State Department of Health
Selected Online Genetic Resources
Alliance of Genetic Support Groups: Contains current information on support groups for more than 300 genetic and rare conditions. Includes accurate addresses, phone numbers, a printed brochure, a list of addresses, and phone numbers.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Consists of a systematic collection of important citations from the world's literature reporting on all common and rare chromosomal alterations, phenotypes and abnormalities in humans.
Department of Energy Human Genome ProgramFocuses on reaching the goals of the U.S. Human Genome Project in cooperation with the extramural division of the National Human Genome Research Institute of the National Institutes of Health.
GeneClinics (formerly Genline): Contains comprehensive clinical descriptions, diagnostic criteria, management and counseling issues, molecular laboratories and genetic support group links for specific genetic conditions.
GeneTestsTMTMTM (formerly Helix): An online international directory of clinical and research genetic laboratories that provide genetic testing.
Genetic Conditions and Rare Conditions Information: Links users to support groups, and educational and research resources.
Genetic Professional Organization: Provides addresses of and information on international genetics groups.
Web site: http://www.kumc.edu/gec/prof/soclist.html
Web site: http://www.faseb.org/genetics
The Human Genome Epidemiology Network (HuGENet™): Provides information on the epidemiologic aspects of human genes.
Human Cytogenetics Database: Includes cytogenetic data on more than 1,000 chromosome aneuploidies.
Information for Genetic Professionals: Provides links to clinical, research, and educational resources for genetic counselors, clinical geneticists, and medical geneticists, as well as information on training programs in genetics.
London Dysmorphology Database (LDDB): Includes a clinical description of more than 3,000 non-chromosomal, multiple congenital anomaly syndromes.
March of Dimes:Provides information on specific birth defects or infant health problems, pre-pregnancy, pregnancy, teen pregnancy, newborn care, effect of exposure to drugs and environmental hazards during pregnancy (teratogens), support groups, and genetics.
National Human Genome Research Institute (NHGRI): Heads the Human Genome Project for the National Institutes of Health.
NORD (National Organization for Rare Disorders, Inc.): Provides education, advocacy, research, and service for voluntary health organizations serving people with rare disorders and disabilities.
Office of Genetics and Disease Prevention (OGDP): Provides access to current information about the impact of human genetic research on public health and disease prevention.
Office of Rare Diseases (ORD): Provides information on more than 6000 rare diseases, including research, scientific and medical publications, as well as patient support groups.
OMIM ™ (Online Mendelian Inheritance in Man): Catalog of human genes and genetic disorders.
POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations): Contains descriptions of more than 2,500 singe gene, chromosomal, skeletal and complex genetic syndromes from the medical literature, as well as from the Genetics Clinic at the Murdoch Institute in Victoria, Australia.
Note: Because of dynamic nature of web, some URLs may have changed.
EVALUATION OF UNIT BY STUDENTS (student questionnaire)

8