Gene c counselling
Gene c counselling Lesson plan (Polish) Lesson plan (English)
Link to the lesson
Before you start you should know
that some mutations increase the risk of cancer in human;
that genetic tests allow for establishing the probability of occurrence of a genetic disease.
You will learn
to give examples of hereditary diseases;
to assess the usability of using genetic counselling by couples trying to make a baby;
to describe basic prenatal testing.
Nagranie dostępne na portalu epodreczniki.pl
Nagranie dźwiękowe dotyczące poradnictwa genetycznego
Hereditary diseases
Hereditary diseases are the result of mutations which cause abnormalities in the structure or functioning of an organism. Such disorders can be caused by different types of damage to genetic material, among which one can differentiate:
chromosome abnormalities consisting in changes in the number or structure of chromosomes;
diseases caused by them are described as syndromes and they are usually named after the surnames of scientists who were the first ones to describe them; they include, among others: Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome;
substitutions (transitions or transversions) which means mutations consisting in a change of one nucleotide into another, which results in diseases such as cystic fibrosis, haemophilia, sickle cell anaemia;
deletions consisting in losing one, few or thousands nucleotides; examples of diseases caused by deletions include cri du chat syndrome (deletion of part of the short arm of chromosome 5), and Angelman syndrome;
dynamic mutations consisting in multiplication of a fragment of one gene from generation to generation (from several dozen to several hundred), which leads to creation of, for example, toxic protein; depending on how long the section of a gene containing repetitive nucleotides is, congenital defects occur in different intensity; this is the case in Huntington’s disease or fragile X syndrome.
Single‑gene mutations are inherited according to the rules of Mendelian inheritance.
Polygenic disorders, such as schizophrenia, are the result of concurrence of numerous abnormal genes and environment.
Gene c counselling
Genetic counselling aims at providing special help for people with neoplasms, genetic disease or
congenital disorder (defect in anatomy of an organism), and for their families. The tasks of the centre for genetic counselling include, among others, investigating family history, estimating the risk of a disease, and performing the tests of genetic predisposition for specific disorders. Also couples trying to have a baby may benefit from genetic counselling, especially if there were genetic diseases in their families or the age of woman is over 35 years old. The main duty of experts from the centre is:
Gene c counselling
Source: h ps://www.maxpixel.net/, licencja: CC 0.establishing whether a baby, which is going to be born, may have a hereditary disease, what are the chances for giving birth to a healthy child in the case when parents already have one ill child, estimating the risk of reoccurrence of genetic disease in next children;
diagnosing whether there is a genetic disease in the case of a child showing disorders in functioning of an organism or abnormal body structure;
formulating recommendations related to preventive healthcare for a mother and child which will be born or an ill child, and especially indicating risk factors and methods of minimising their impact on the organism;
providing psychological support for people with genetic disease and their families.
Problems analysed in centres for gene c counselling Source: Anita Mowczan, licencja: CC BY 3.0.
There are over 20 centres for genetic counselling in Poland. For example, tests specifying predispositions to most common neoplasms (e.g. breast cancer, colorectal cancer) can be conducted there.
Preven on of gene c diseases and congenital disorders
The most common cause of contacting the centre for genetic counselling are miscarriages or giving birth to a child with a congenital disorder. In majority of these cases both parents and a child should be covered by the genetic counselling. It is estimated that approx. 35% of congenital disorders are caused only by genetic factors.
Prevention of genetic diseases may be divided into primary and secondary. Primary prevention covers the activities aiming at eliminating the possibility of occurring of abnormal genotype and malformations.
For example, it is recommended to women in reproductive age to take vitamin B9 (folic acid), to prevent abnormal development of nervous system in a child. Secondary prevention covers the entirety of genetic counselling and prenatal diagnosis in order to detect genetic diseases of foetus. Prenatal testing should be performed in a pregnant woman if:
she is over 35 years old;
in previous pregnancies chromosome abnormalities were found in her case;
the occurrence of chromosome abnormalities was found in hero or in child’s father;
it was stated on the basis of the family history that there is an elevated risk of giving birth to a child with genetic disease;
abnormalities in the anatomy or development of foetus were found during the medical ultrasound testing.
Amniocentesis
Source: Andrzej Bogusz, licencja: CC BY 3.0.
The early detection of a defect, even at the stage of foetal development, allows for initiating a therapy even before child’s birth. It provides the possibility to improve the condition of foetus and increases the chances of a child to be born in better general condition. In the cases of severe defects parents may consider the possibility to terminate the pregnancy.
Prenatal testing may be invasive, they consist in breaking the continuity of tissues, for example during amniocentesis, which means sampling amniotic fluid, cord blood or tissues of foetus, which can be risky for a pregnant woman. However, non‑invasive testing, for example medical ultrasound testing of foetus, do not harm mother and child.
What is a gene c counselling?
Source: licencja: CC BY-SA 3.0.
Exercise 1
Match a genetic disease with the type of mutation which causes this disease.
Down syndrome, cri du chat syndrome, fragile X syndrome, sickle cell anaemia change in the
number of chromosomes
change of one nucleo de into another
dele on
mul plying of a fragment of one gene from genera on to genera on
Exercise 2
What are the characteristics of genetic diseases caused by single-gene mutations? Tick all correct answers.
They are inherited according to the rules of Mendelian inheritance.
In some cases they are inherited dominantly.
In some cases they are inherited recessively.
They are the result of concurrence of a defective gene and environment.
Exercise 3
What is the aim of performing prenatal tests in pregnant women? Indicate correct answer.
The assessment of mother’s health condition and early detection of possible ailments related to pregnancy.
The assessment of the health condition of foetus and early detection of its possible congenital disorders.
The assessment of mother’s health condition in terms of the ability to get pregnant again.
The assessment of foetus’ health condition in terms of its future intellectual potential.
Summary
Hereditary diseases are the result of mutations.
People with genetic disease or congenital disorder, as well as their families, may profit from genetic counselling refunded by the state.
Homework Task 1.1
Find out where is a centre for genetic counselling which is the nearest to your place of residence, and what tests it has in its offer.
Keywords
Genetic counselling, mutations, genetic diseases
Glossary
amniocentesis
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka amniocentesis
amniopunkcja – metoda diagnostyczna polegająca na pobraniu płynu owodniowego kobiety w ciąży w celu przeprowadzenia badań genetycznych
gene c counselling
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka genetic counselling
poradnictwo genetyczne – udzielenie porady oraz objęcie pomocą całej rodziny osoby cierpiącej na chorobę genetyczną lub wrodzoną wadę rozwojową
congenital disorder
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka congenital disorder
wrodzona wada rozwojowa – nieprawidłowość w budowie zewnętrznej lub wewnętrznej powstająca w czasie rozwoju wewnątrzmacicznego, będąca zwykle przyczyną niepełnosprawności dziecka; może być uwarunkowana przez czynniki genetyczne albo zewnętrzne: wirusy, promieniowanie jonizujące, niektóre leki
Lesson plan (Polish)
Temat: Poradnictwo genetyczne Adresat
Uczniowie liceum ogólnokształcącego i technikum Podstawa programowa
Wymagania ogólne
V. Rozumowanie i zastosowanie nabytej wiedzy do rozwiązywania problemów biologicznych. Uczeń:
1. interpretuje informacje i wyjaśnia związki przyczynowo‑skutkowe między procesami i zjawiskami, formułuje wnioski;
Wymagania szczegółowe
XV. Biotechnologia. Podstawy inżynierii genetycznej. Uczeń:
11. przedstawia sytuacje, w których zasadne jest korzystanie z poradnictwa genetycznego.
Ogólny cel kształcenia
Uczeń zdobywa wiedzę na temat celów, jakim służy poradnictwo genetyczne.
Kompetencje kluczowe
porozumiewanie się w językach obcych;
kompetencje informatyczne;
umiejętność uczenia się.
Kryteria sukcesu Uczeń nauczy się:
wymieniać przykłady chorób dziedzicznych;
oceniać przydatność stosowania poradnictwa genetycznego u par starających się o dziecko;
opisywać podstawowe badania prenatalne.
Metody/techniki kształcenia podające
pogadanka.
aktywizujące dyskusja.
programowane
z użyciem komputera;
z użyciem e‑podręcznika.
praktyczne
ćwiczeń przedmiotowych.
Formy pracy
praca indywidualna;
praca w parach;
praca w grupach;
praca całego zespołu klasowego.
Środki dydaktyczne e‑podręcznik;
zeszyt i kredki lub pisaki;
tablica interaktywna, tablety/komputery.
Przebieg lekcji Przed lekcją
Uczniowie zapoznają się z treścią abstraktu. Przygotowują się do pracy na lekcji w taki sposób, żeby móc przeczytany materiał streścić własnymi słowami i samodzielnie rozwiązać zadania.
Faza wstępna
Nauczyciel podaje temat, cele lekcji i kryteria sukcesu sformułowane w języku zrozumiałym dla ucznia.
Faza realizacyjna
Uczestnicy zajęć zapoznają się z treścią przedstawioną na ilustracji interaktywnej pt.: „Na czym polega poradnictwo genetyczne?”. Następnie nauczyciel omawia z uczniami poznane zagadnienia.
Pracując w niewielkich grupach uczniowie wyszukują w dostępnych źródłach informacje na temat wybranych chorób genetycznych takich jak zespół Downa, anemia sierpowata, hemofilia, zespół kociego krzyku, zespół łamliwego chromosomu X, fenyloketonuria, itp. Każda grupa analizuje inną chorobę: uczniowie zdobywają informacje na temat przyczyn choroby, jej objawów, możliwości leczenia oraz możliwości profilaktyki. (Przykładowe źródła: www.genome.gov, www.cdc.gov, en.wikipedia.org).
Uczniowie prezentują wyniki pracy na forum klasy. Po zakończeniu prezentacji nauczyciel inicjuje dyskusję na temat diagnostyki prenatalnej i jej znaczenia w wykrywaniu chorób i wad wrodzonych płodu oraz możliwości wdrożenia leczenia na bardzo wczesnym etapie życia dziecka oferowanych przez współczesną medycynę.
Uczniowie wykonują kolejne ćwiczenia i polecenia. Nauczyciel sprawdza i uzupełnia odpowiedzi, przedstawiając uczniom niezbędne informacje. Udziela informacji zwrotnej..
Faza podsumowująca
Nauczyciel krótko przedstawia najważniejsze zagadnienia omówione na zajęciach. Odpowiada na dodatkowe pytania podopiecznych i wyjaśnia wszelkie ich wątpliwości. Uczniowie uzupełniają notatki.
Praca domowa
Odsłuchaj w domu nagrania abstraktu. Zwróć uwagę na wymowę, akcent i intonację. Naucz się prawidłowo wymawiać poznane na lekcji słówka.
Korzystając ze strony www.genome.gov poszukaj informacji na temat raka piersi, następnie zaprojektuj krótką broszurę informacyjną.
W tej lekcji zostaną użyte m.in. następujące pojęcia oraz nagrania
Pojęcia
amniocentesis
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka amniocentesis
amniopunkcja – metoda diagnostyczna polegająca na pobraniu płynu owodniowego kobiety w ciąży w celu przeprowadzenia badań genetycznych
gene c counselling
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka genetic counselling
poradnictwo genetyczne – udzielenie porady oraz objęcie pomocą całej rodziny osoby cierpiącej na chorobę genetyczną lub wrodzoną wadę rozwojową
congenital disorder
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka congenital disorder
wrodzona wada rozwojowa – nieprawidłowość w budowie zewnętrznej lub wewnętrznej powstająca w czasie rozwoju wewnątrzmacicznego, będąca zwykle przyczyną niepełnosprawności dziecka; może być uwarunkowana przez czynniki genetyczne albo zewnętrzne: wirusy, promieniowanie jonizujące, niektóre leki
Teksty i nagrania
Nagranie dostępne na portalu epodreczniki.pl
Nagranie dźwiękowe dotyczące poradnictwa genetycznego
Genetic counselling
Hereditary diseases are the result of mutations which cause abnormalities in the structure or functioning of an organism. Such disorders can be caused by different types of damage to genetic material, among which one can differentiate:
chromosome abnormalities consisting in changes in the number or structure of chromosomes;
diseases caused by them are described as syndromes and they are usually named after the surnames of scientists who were the first ones to describe them; they include, among others: Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome;
substitutions (transitions or transversions) which means mutations consisting in a change of one nucleotide into another, which results in diseases such as cystic fibrosis, haemophilia, sickle cell anaemia;
deletions consisting in losing one, few or thousands nucleotides; examples of diseases caused by deletions include cri du chat syndrome (deletion of part of the short arm of chromosome 5), and Angelman syndrome;
dynamic mutations consisting in multiplication of a fragment of one gene from generation to generation (from several dozen to several hundred), which leads to creation of, for example, toxic protein; depending on how long the section of a gene containing repetitive nucleotides is, congenital defects occur in different intensity; this is the case in Huntington’s disease or fragile X syndrome.
Single‑gene mutations are inherited according to the rules of Mendelian inheritance.
Polygenic disorders, such as schizophrenia, are the result of concurrence of numerous abnormal genes and environment.
Genetic counselling aims at providing special help for people with neoplasms, genetic disease or
congenital disorder (defect in anatomy of an organism), and for their families. The tasks of the centre for genetic counselling include, among others, investigating family history, estimating the risk of a disease, and performing the tests of genetic predisposition for specific disorders. Also couples trying to have a baby may benefit from genetic counselling, especially if there were genetic diseases in their families or the age of woman is over 35 years old. The main duty of experts from the centre is:
establishing whether a baby, which is going to be born, may have a hereditary disease, what are the chances for giving birth to a healthy child in the case when parents already have one ill child, estimating the risk of reoccurrence of genetic disease in next children;
diagnosing whether there is a genetic disease in the case of a child showing disorders in functioning of an organism or abnormal body structure;
formulating recommendations related to preventive healthcare for a mother and child which will be born or an ill child, and especially indicating risk factors and methods of minimising their impact on the organism;
providing psychological support for people with genetic disease and their families.
There are over 20 centres for genetic counselling in Poland. For example, tests specifying predispositions to most common neoplasms (e.g. breast cancer, colorectal cancer) can be conducted there.
The most common cause of contacting the centre for genetic counselling are miscarriages or giving birth to a child with a congenital disorder. In majority of these cases both parents and a child should be covered by the genetic counselling. It is estimated that approx. 35% of congenital disorders are caused only by genetic factors.
Prevention of genetic diseases may be divided into primary and secondary. Primary prevention covers the activities aiming at eliminating the possibility of occurring of abnormal genotype and malformations.
For example, it is recommended to women in reproductive age to take vitamin B9 (folic acid), to prevent abnormal development of nervous system in a child. Secondary prevention covers the entirety of genetic counselling and prenatal diagnosis in order to detect genetic diseases of foetus. Prenatal testing should be performed in a pregnant woman if:
she is over 35 years old;
in previous pregnancies chromosome abnormalities were found in her case;
the occurrence of chromosome abnormalities was found in hero or in child’s father;
it was stated on the basis of the family history that there is an elevated risk of giving birth to a child with genetic disease;
abnormalities in the anatomy or development of foetus were found during the medical ultrasound testing.
The early detection of a defect, even at the stage of foetal development, allows for initiating a therapy even before child’s birth. It provides the possibility to improve the condition of foetus and increases the chances of a child to be born in better general condition. In the cases of severe defects parents may consider the possibility to terminate the pregnancy.
Prenatal testing may be invasive, they consist in breaking the continuity of tissues, for example during amniocentesis, which means sampling amniotic fluid, cord blood or tissues of foetus, which can be risky for a pregnant woman. However, non‑invasive testing, for example medical ultrasound testing of foetus, do not harm mother and child.
Hereditary diseases are the result of mutations.
People with genetic disease or congenital disorder, as well as their families, may profit from genetic counselling refunded by the state.
Lesson plan (English)
Topic: Genetic counselling Target group
High school / technical school student Core curriculum
General requirements
V. Reasoning and applying the acquired knowledge to solving biological problems. Student:
1. interprets information and explains causal relationships between processes and phenomena, formulates conclusions;
Specific requirements
XV. Biotechnology. Basics of genetic engineering. Student:
11. presents situations in which the use of genetic counseling is justified.
General aim of education
The student acquires knowledge about the purposes of genetic counseling.
Key competences
communication in foreign languages;
digital competence;
learning to learn.
Criteria for success The student will learn:
exchange examples of hereditary diseases;
assess the applicability of genetic counseling in couples applying for a child;
describe basic prenatal tests.
Methods/techniques expository
talk.
activating
discussion.
programmed
with computer;
with e‑textbook.
practical
exercices concerned.
Forms of work
individual activity;
activity in pairs;
activity in groups;
collective activity.
Teaching aids e‑textbook;
notebook and crayons/felt‑tip pens;
interactive whiteboard, tablets/computers.
Lesson plan overview Before classes
Students get acquainted with the content of the abstract. They prepare to work on the lesson in such a way to be able to summarize the material read in their own words and solve the tasks themselves.
Introduction
The teacher gives the topic, the goals of the lesson in a language understandable for the student, and the criteria of success.
Realization
Working in small groups, students search in available sources for information on selected genetic diseases such as Down's syndrome, sickle cell anemia, hemophilia, feline cry syndrome, fragile X syndrome, phenylketonuria, etc. Each group analyzes a different disease: students get information about the causes the disease, its symptoms, treatment options and the possibility of prophylaxis.
Students present the results of their work on the class forum. After the presentation, the teacher initiates a discussion about prenatal diagnosis and its importance in detecting diseases and defects of congenital fetuses and the possibility of implementing treatment at a very early stage of the child's life offered by modern medicine.
The participants will familiarize themselves with the content presented in the interactive illustration
„What is genetic counseling?”. Then the teacher discusses the issues discussed with the students.
Students perform exercises and commands. The teacher checks and supplements the answers, providing students with the necessary information. Provides feedback..
Summary
The teacher briefly presents the most important issues discussed in class. He answers the additional questions of the proteges and explains all their doubts. Students complete notes.
Homework
Listen to the abstract recording at home. Pay attention to pronunciation, accent and intonation.
Learn to pronounce the words learned during the lesson.
Using the www.genome.gov website, look for information about breast cancer, then design a brief information brochure..
The following terms and recordings will be used during this lesson
Terms
amniocentesis
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka amniocentesis
amniopunkcja – metoda diagnostyczna polegająca na pobraniu płynu owodniowego kobiety w ciąży
w celu przeprowadzenia badań genetycznych gene c counselling
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka genetic counselling
poradnictwo genetyczne – udzielenie porady oraz objęcie pomocą całej rodziny osoby cierpiącej na chorobę genetyczną lub wrodzoną wadę rozwojową
congenital disorder
Nagranie dostępne na portalu epodreczniki.pl Nagranie dźwiękowe słówka congenital disorder
wrodzona wada rozwojowa – nieprawidłowość w budowie zewnętrznej lub wewnętrznej powstająca w czasie rozwoju wewnątrzmacicznego, będąca zwykle przyczyną niepełnosprawności dziecka; może być uwarunkowana przez czynniki genetyczne albo zewnętrzne: wirusy, promieniowanie jonizujące, niektóre leki
Texts and recordings
Nagranie dostępne na portalu epodreczniki.pl
Nagranie dźwiękowe dotyczące poradnictwa genetycznego
Genetic counselling
Hereditary diseases are the result of mutations which cause abnormalities in the structure or functioning of an organism. Such disorders can be caused by different types of damage to genetic material, among which one can differentiate:
chromosome abnormalities consisting in changes in the number or structure of chromosomes;
diseases caused by them are described as syndromes and they are usually named after the surnames of scientists who were the first ones to describe them; they include, among others: Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome;
substitutions (transitions or transversions) which means mutations consisting in a change of one nucleotide into another, which results in diseases such as cystic fibrosis, haemophilia, sickle cell anaemia;
deletions consisting in losing one, few or thousands nucleotides; examples of diseases caused by deletions include cri du chat syndrome (deletion of part of the short arm of chromosome 5), and Angelman syndrome;
dynamic mutations consisting in multiplication of a fragment of one gene from generation to generation (from several dozen to several hundred), which leads to creation of, for example, toxic protein; depending on how long the section of a gene containing repetitive nucleotides is, congenital defects occur in different intensity; this is the case in Huntington’s disease or fragile X syndrome.
Single‑gene mutations are inherited according to the rules of Mendelian inheritance.
Polygenic disorders, such as schizophrenia, are the result of concurrence of numerous abnormal genes and environment.
Genetic counselling aims at providing special help for people with neoplasms, genetic disease or
congenital disorder (defect in anatomy of an organism), and for their families. The tasks of the centre for genetic counselling include, among others, investigating family history, estimating the risk of a disease, and performing the tests of genetic predisposition for specific disorders. Also couples trying to have a baby may benefit from genetic counselling, especially if there were genetic diseases in their families or the age of woman is over 35 years old. The main duty of experts from the centre is:
establishing whether a baby, which is going to be born, may have a hereditary disease, what are the chances for giving birth to a healthy child in the case when parents already have one ill child, estimating the risk of reoccurrence of genetic disease in next children;
diagnosing whether there is a genetic disease in the case of a child showing disorders in functioning of an organism or abnormal body structure;
formulating recommendations related to preventive healthcare for a mother and child which will be born or an ill child, and especially indicating risk factors and methods of minimising their impact on the organism;
providing psychological support for people with genetic disease and their families.
There are over 20 centres for genetic counselling in Poland. For example, tests specifying predispositions to most common neoplasms (e.g. breast cancer, colorectal cancer) can be conducted there.
The most common cause of contacting the centre for genetic counselling are miscarriages or giving birth to a child with a congenital disorder. In majority of these cases both parents and a child should be covered by the genetic counselling. It is estimated that approx. 35% of congenital disorders are caused only by genetic factors.
Prevention of genetic diseases may be divided into primary and secondary. Primary prevention covers the activities aiming at eliminating the possibility of occurring of abnormal genotype and malformations.
For example, it is recommended to women in reproductive age to take vitamin B9 (folic acid), to prevent abnormal development of nervous system in a child. Secondary prevention covers the entirety of genetic counselling and prenatal diagnosis in order to detect genetic diseases of foetus. Prenatal testing should be performed in a pregnant woman if:
she is over 35 years old;
in previous pregnancies chromosome abnormalities were found in her case;
the occurrence of chromosome abnormalities was found in hero or in child’s father;
it was stated on the basis of the family history that there is an elevated risk of giving birth to a child with genetic disease;
abnormalities in the anatomy or development of foetus were found during the medical ultrasound testing.
The early detection of a defect, even at the stage of foetal development, allows for initiating a therapy even before child’s birth. It provides the possibility to improve the condition of foetus and increases the chances of a child to be born in better general condition. In the cases of severe defects parents may consider the possibility to terminate the pregnancy.
Prenatal testing may be invasive, they consist in breaking the continuity of tissues, for example during amniocentesis, which means sampling amniotic fluid, cord blood or tissues of foetus, which can be risky for a pregnant woman. However, non‑invasive testing, for example medical ultrasound testing of foetus, do not harm mother and child.
Hereditary diseases are the result of mutations.
People with genetic disease or congenital disorder, as well as their families, may profit from genetic counselling refunded by the state.
