Information Package
baskent.edu.tr

Ph.D. on Medical Genetics

GEN643

GENETIC CONSULTING

Course Code
GEN643
Semester
-
Theory+Practice
2 + 0
ECTS
10
Course TypeElective Course
Course LevelDoctorate Of Science
Year of Study-
Semester-
ECTS10
Name of Lecturer(s)
Learning Outcomes

At the end of this course, the students;

  1. Knows the concepts of genetic counselling,
  2. Knows the frequent genetic diseases and their hereditary pattern,
  3. Knows the diagnostic tools for hereditary diseases,
  4. Knows pedigree analysis and acquirement of family history, interview and case preparation,
  5. Knows patient education, risk assessment and management,
  6. Knows ethical and legal issues.
Mode of DeliveryFace to face
PrerequisitesNo
Recommended Optional Programme ComponentsNone
Course DescriptionStudents are expected to learn the concepts of genetic counselling, frequent genetic diseases and their hereditary pattern, diagnostic tools for hereditary diseases, pedigree analysis and acquirement of family history, interview and case preparation, patient education, risk assessment and management, ethical and legal issues at the end of this course
Course Contents
WEEK TOPICS
1st Week 1. Introduction, definitions, and goals
2nd Week 2. Basic genetic concepts
3rd Week 3. Genetic diseases and inheritance
4th Week 4. Genetics defects and reproductive health
5th Week 5. A genetic approach to the pregnancy loss
6th Week 6. Genetic defects caused pregnancy loss and diagnosis algorithms
7th Week 7. Case discussion
8th Week 8. Midterm
9th Week 9. Prenatal diagnosis to chromosomal disorders, indications, algorithms
10th Week 10. Prenatal diagnosis to single gene disorders, indications, algorithms
11th Week 11. Case discussion
12th Week 12. Preimplantation genetic screening and diagnosis methods, indications, algorithms
13th Week 13. Case discussion
14th Week 14. Medical and legail issues in reproductive genetics
15th Week
16th Week
Recommended or Required Reading1. A Guide to Genetic Counseling (2nd Edition), Wendy R. Uhlmann, Wiley-Blackwell, 2009.
2. Practical Genetic Counselling. Peter S. Harper. 7th ed. Taylor & Francis Group, LLC (2011).
3. Thompson &Thompson Genetics in Medicine 8th Edition, Nussbaum R.L., McInnes R.R., Willard H.F., Saunders Elsevier, Philadelphia, PA (2016)
4. Firth HV., Hurst JA. Oxford Desk Referrence.Clinical Genetics and Genomics.2nd ed. 2017
Planned Learning Activities and Teaching Methods
  • Lecture
  • Discussion
  • Questions/Answers
  • Case Study
  • Problem Solving
  • Practice
  • Presentation
Assessment Methods and Criteria
Quantity Percentage (%)
Mid-term 1 30
Assignment 1 20
Total(%) 50
Contribution of In-term Studies to Overall Grade(%) 50
Contribution of Final Examination to Overall Grade(%) 50
Total(%) 100
ECTS Allocated Based on Student Workload
Activities Quantity Duration (Hour) Total Workload (Hour)
Midterm exam 1 2 2
Preparation for Quiz 2 3 6
Individual or group work 14 5 70
Preparation for Final exam 1 30 30
Course hours 14 3 42
Preparation for Midterm exam 1 20 20
Laboratory (including preparation)
Final exam 1 2 2
Homework 4 32 128
Total Work Load300
Total Work Load / 30 (h)10
ECTS Credit of the Course10
Language of InstructionTurkish
Work Placement(s)No

Programme Qualifications / Learning Outcomes

LO1 LO2 LO3 LO4 LO5 LO6
K1 X
K2 X X
K3 X
K4 X X
K5 X X
K6 X X
K7 X X X X X X
K8 X X X X X X
K9 X X X X X X