Study Guide

Objectives

The aim of the course is to introduce the field of clinical genetics from the perspective of a biomedical laboratory scientist's work and to study theoretical knowledge of laboratory tests, analytical methods and ethical aspects related to clinical genetics.

After completing the course the student:
• knows the basic concepts and most common inheritance patterns of genetics
• knows the basics of research methods used in genetic laboratories and can find out their principles
• knows the perspectives related to the genetics of multifactorial diseases
• knows the special features of fetal diagnostics and knows the basic information of the methods used in fetal diagnostics
• knows the ethical aspects related to genetic research

Content

• Clinical genetics as a specialty
• Basic concepts of genetics
• Diagnostic methods used in genetics
• Prenatal diagnosis
• Genetics of multifactorial diseases
• Cancer genetics
• Ethical perspectives

Assessment criteria, satisfactory (1-2)

The student can name some of the methods used in clinical genetics laboratories and their most common applications in diagnostics. The student understands the theoretical foundations of clinical genetics in terms of the knowledge base needed by a biomedical laboratory scientist. The student recognizes some of the ethical issues related to clinical genetics.

Assessment criteria, good (3-4)

The student recognizes the main methods used in clinical genetics laboratories, knows their principles and factors affecting their reliability. The student understands and structures the theoretical foundations of clinical genetics in terms of the knowledge base needed by a biomedical laboratory scientist. The student can apply the learned knowledge base to the work of a biomedical laboratory scientist. The student demonstrates that he/she is familiar with the ethical issues in the field of clinical genetics.

Assessment criteria, excellent (5)

The student knows the basic principles and quality factors of the methods used in clinical genetics laboratories. The student can explain in detail the most important research methods and the most common applications in diagnostics. The student can analyze the usability and limitations of different research methods using examples. The student can apply the knowledge base they have acquired in professional tasks and justify their actions based on what they have learned and researched. The student can name ethical issues related to clinical genetics and present perspectives on them.