Veidlapa Nr. M-3 (8)

Study Course Description

Clinical Genetics I

Main Study Course Information

Course Code

RGN_024

Branch of Science

Clinical medicine; Medicinal Genetics

ECTS

40.00

Target Audience

Medicine

LQF

Level 8

Study Course Implementer

Course Supervisor

Daiga Mūrmane

Residency Speciality

Speciality

Medical Geneticist

Supervisor of Medical Speciality

Madara Rēdele

Contacts

About Study Course

Objective

To provide the acquisition and improvement of theoretical knowledge and practical skills in order to prepare the doctor for certification in the speciality of a medical geneticist in accordance with the laws and regulations of the Republic of Latvia.

Learning Outcomes

Knowledge

1.Defines the role of genetic factors in maintaining health, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogens in the development of human congenital anomalies. Describes how changes in chromosomes and DNA change the function or number of genes, main monogenic and other types of inheritance. Describes the clinical signs of the most common congenital monogenic and chromosomal diseases. Understands the clinical significance of penetrance, variable expression, anticipation, and new mutation. Explains the possibilities and limitations of genetic investigation. Describes the main methods of obtaining the test sample in prenatal diagnosis. Understands the main ethical issues in genetics.

Skills

1.Collects family anamnesis, draws up and interprets the family tree, recognises patients with a genetic disease or risk of developing a genetic disease, provides genetic counselling according to the objectives, methods and practice adopted, calculates the monogenetic disease recurrence risk, explains the concept of risk to the patient in an understandable way, interprets the results provided by the genetic laboratory, provides the genetic information in an understandable way, and allows the patient and their family to make the decision.

Competences

1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. Selects an examination plan appropriate for setting the diagnosis, prescribes examinations; evaluates possible genetic disease heterogeneity and the impact thereof on the diagnosis; sets a genetic diagnosis according to the practice of evidence-based medicine; provides the patient with information about the mechanism of inheritance of the genetic disease, family planning, course of the disease and prognosis; recommends consultations of other specialists according to the medical problems, the development of which is characteristic of the specific genetic syndrome; prescribes medications specific to genetic diseases. Able to draw up an appropriate investigation plan for establishing a diagnosis, prescribe examinations. Knowledge of the specific problem is sufficient to understand its essence, to diagnose and, if necessary, provide emergency assistance, implement diagnostic, treatment and preventive measures under the guidance of a specialist.

Assessment

Individual work

Title	% from total grade	Grade
1. Individual work	-	-
To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases. Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.

Examination

Title	% from total grade	Grade
1. Examination	-	-
At the end of the course, teaching staff: 1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book. 2. Assesses the theoretical knowledge of the medical genetics resident on a 10-point scale after a written examination – a multiple-choice test, recording the assessment in the medical resident’s book.

Study Course Theme Plan

FULL-TIME

Part 1

Seminar

Modality	Location
-	-

Topics

Structure, tasks, possibilities of the Clinic for Medical Genetics and Prenatal Diagnosis (MĢPDK).

Seminar

Modality	Location
-	-

Topics

Medical genetic counselling and calculation of probable risk in offspring

Seminar

Modality	Location
-	-

Topics

Medical genetic counselling and calculation of probable risk in offspring

Seminar

Modality	Location
-	-

Topics

Medical genetic counselling and calculation of probable risk in offspring

Seminar

Modality	Location
-	-

Topics

Classification of genetic diseases, types of inheritance

Seminar

Modality	Location
-	-

Topics

Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis

Seminar

Modality	Location
-	-

Topics

Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis

Seminar

Modality	Location
-	-

Topics

Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis

Seminar

Modality	Location
-	-

Topics

Ethical aspects of genetic counselling, discussion of complex cases

Seminar

Modality	Location
-	-

Topics

Ethical aspects of genetic counselling, discussion of complex cases

Seminar

Modality	Location
-	-

Topics

Relation of clefts to genetic pathology

Seminar

Modality	Location
-	-

Topics

Relation of clefts to genetic pathology

Seminar

Modality	Location
-	-

Topics

Prenatal diagnosis of inherited and congenital anomalies of foetal development

Seminar

Modality	Location
-	-

Topics

Prenatal diagnosis of inherited and congenital anomalies of foetal development

Seminar

Modality	Location
-	-

Topics

Pregnancy planning for families at increased risk of giving birth to a child with congenital and inherited diseases

Seminar

Modality	Location
-	-

Topics

Pregnancy planning for families at increased risk of giving birth to a child with congenital and inherited diseases

Seminar

Modality	Location
-	-

Topics

Genetic counselling: indications for referral to MĢPDK, for postnatal counselling

Seminar

Modality	Location
-	-

Topics

Genetic counselling: indications for choosing an appropriate method of genetic investigation

Total ECTS (Creditpoints):

40.00

Number of Residency Seminars:

Length (weeks):

Final Examination:

Residency exam (Theory and practice)

Bibliography

Required Reading

Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, 2022

Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 2010

Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics., 2018

Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis. 2nd Edition, 2009

DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges, 2010

Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities, 2015

Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies, 2018

Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015

Harper, P. Practical Genetic Counselling. 7th Edition. CRC Press, 2011

10.

Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010

11.

Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021

12.

Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020

13.

Reardson, W. The Bedside Dysmorhologist. Oxford, 2016

14.

Jones, Kenneth L, Marilyn C. Jones, and Miguel. Campo. Smith's Recognizable Patterns of Human Malformation., 2013

15.

Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017

16.

Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017

17.

Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016

18.

Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016

19.

Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2. Springer, 2014

20.

Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019

21.

Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007

Other Information Sources

OMIM.

Orphanet.

Genereviews

Phenomizer. HPO.

Varsome.

Reprotox.

Metagene.

Vademecum Metabolicum.

Metabolic Emergency Protocol.

10.

NDC.

11.

Treat NMD.

12.

NCCN Guidelines.