4.5. Clinical Genetics 1600-LekM5LSSGEN-NJ

The aim of classes in clinical genetics is to familiarize students with modern knowledge about the genetic background and mechanisms of diseases (including cancer) and to provide knowledge about genetic techniques commonly used in genetic diagnostics. Students learn about the principles of referring patients to a genetic clinic, indications for genetic testing and conducting genetic counseling. They will learn about monogenic, polygenic and mitochondrial diseases, rare diseases, late-onset diseases, hereditary and hematological cancers and the possibilities of their genetic diagnosis. Students learn how to
based on the clinical picture and the results of genetic tests, make a diagnosis of a genetic disease.

Term 2022/23:

Total student workload

1. The workload related to classes requiring the direct participation of academic teachers is: participation in seminars: 14 hours participation in exercises 4 hours consultation: 5 hours conducting the exam: 2 hours The workload related to classes requiring the direct participation of academic teachers amounts to 18 hours, which corresponds to 1 ECTS point

Learning outcomes - knowledge

W1: knows the mechanism of interaction of genes related to the development of genetic diseases and the development of cancer - CK_W02 W2: knows the issue of sex determination - CK_W03 W3: knows mitochondrially inherited diseases -CK_W05 W4: knows chromosome aberrations occurring in genetic syndromes and cancers, e.g. of the hematopoietic system - CK_W07 W5: knows the basic research techniques of cytogenetics and molecular biology and their application in the diagnosis of genetic diseases - CK_W09

Learning outcomes - skills

340 / 5 000 Wyniki tłumaczenia U1: can assess the way in which a genetic disease is inherited based on pedigree analysis - CK_U01 U2: can qualify patients for genetic testing - CK_U03 U3: can assess the risk of having a child with an abnormal condition karyotype based on family history and influence of factors environmental - CK_U05

Learning outcomes - social competencies

K1: understands the need to constantly acquire up-to-date knowledge in clinical genetics to enhance yours professional competence, demonstrates skill and habit self-education - K_K08 K2: has the ability to cooperate with people of other professions during the process of diagnosing patients with diseases genetic - K_K07

Teaching methods

Seminars: providing students with the latest knowledge on the genetic background and mechanisms of diseases (including cancer), human congenital defects and methods of their treatment, and ethical aspects of genetic tests (information seminar, didactic discussion, case studies). Discussing clinical cases. Introduction to issues related to prenatal diagnosis. Classes: acquainting students with the scope of genetic research and the selection of the appropriate diagnostic method

Observation/demonstration teaching methods

- display

Expository teaching methods

- problem-based lecture

Exploratory teaching methods

- seminar

Type of course

compulsory course

Prerequisites

Before starting the course, the student must know the material passed on in the second year of studies in the subject Basics of clinical genetics and basic concepts in the field of genetics.

Course coordinators

Term 2023/24:

Olga Haus

Term 2022/23:

Magdalena Pasińska

Assessment criteria

Seminars: 14 hours
Exercise: 4 hours
- credit based on active participation in seminars and classes. Each student must score at least 4 points for activity during the seminars.

The exam of the module part: Clinical Genetics consists of 50 single-choice test questions. The condition for passing the course is to obtain 60% of correct answers.

Assessment criteria - (choice test)
Rules for calculating the modular exam
for the module:
A doctor facing aging and death

The unit responsible for conducting the examination:
Department of Forensic Medicine email: kizmedsad@cm.umk.pl, phone: 52 585 35 52

1. Each unit that is part of the module conducts a partial examination in the course it conducts.
2. The weight of each partial exam depends on the number of ECTS points in a given subject:
A. Shaping attitudes towards the elderly (ECTS 0.4) - weight 0.06
B. Geriatrics (ECTS 1.4) - weight 0.18
C. Palliative medicine (ECTS 1.4) – weight 0.18
D. Forensic medicine (ECTS 2.0) - weight 0.26
E. Clinical Genetics (ECTS 1.2) – weight 0.16
F. Aesthetic medicine and corrective surgery (ECTS 1.2) - weight 0.16
3. The results of individual exams in percentage form are sent to the unit responsible for conducting the exam.
4. The student's final grade for the modular exam is calculated according to the following formula:

0.06*A + 0.18*B + 0.18*C + 0.26*D + 0.16*E + 0.16*F
Where:
1. Percentage of points obtained by the student in the partial exam in the subject Shaping attitudes towards the elderly
2. Percentage of points obtained by the student in the Geriatrics exam
3. Percentage of points obtained by the student in the partial exam in the subject of Palliative Medicine
4. Percentage of points obtained by the student in the partial exam in the subject of Forensic Medicine
5. Percentage of points obtained by the student in the partial exam in the subject of Clinical Genetics
6. Percentage of points obtained by the student in the partial exam in the subject of Aesthetic Medicine and Remedial Surgery

5. The obtained percentage result is then converted into a grade in accordance with the table included in the study regulations.

Example:
% points subject A - 65%
% points subject B - 78%
% points subject C - 90%
% points subject D - 88%
% points subject E - 60%
% points subject F - 75%
0.06*65% + 0.18*78% + 0.18*90% + 0.26*88% + 0.16*60% + 0.16*75% = 78.6%
in accordance with the study regulations, 78.6% corresponds to the grade dst+ (3.5), which is the student's final grade for the module exam.

6. In order to calculate the final grade, the student must obtain at least 60% of points from each partial exam. If the student does not obtain the required number of points, it results in failing the entire module.
7. In case of failing one subject, the make-up exam covers only the uncredited part of the material from a given subject included in the module. On the other hand, the student receives an unsatisfactory grade (2.0) in the module exam on the first date.

Practical placement

not applicable

Bibliography

Basic:
1. Lynn B. Jorde, John C. Carey. (ed. Maciej Borowiec): Medical genetics. Edra Urban & Partner, Wrocław 2021
2. Bal J.: Medical and molecular genetics. Elements of clinical genetics. PWN 1, 2017
3. Wegrzyn P.: Genetics in gynecology and obstetrics. PZWL 2018
4. Śmigiel R, Szczałuba K. Genetically conditioned development disorders in children. PZWL 2021

Complementary:
1. Jones K., Jones M., del Campo M. Smith's Atlas of Developmental Malformations. Medipage 2018
2. Jorde L.B. et al. (editor of the Polish edition - B. Kałuszewski): Medical genetics. ed. 2 Urban&Partner 2014
3. Srebniak M.I., Tomaszewska A.: Cytogenetic studies. PZWL 2008
4. Węgleński P.: Molecular genetics. PWN 2012

Term 2022/23:

Notes

Term 2022/23:

not applicable

Additional information

Additional information (registration calendar, class conductors, localization and schedules of classes), might be available in the USOSweb system:

Description of 1600-LekM5LSSGEN-NJ in USOSweb