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Euthenics, Eugenics and genetic
counseling
Nizad sultana
Department of Zoology
University of Gujrat
These are branches of
science that tend to
improve our life
better.
Euthenics
Euthenics is the study of the
improvement of human
functioning and well-being by
improvement of living
conditions.
Human well being in present
generation.
Improvement” is conducted by altering
external factors :-
 education
 controllable environment
prevention and removal of contagious
disease and parasites, environmentalism,
education regarding employment, home
economics, sanitation, and housing.
 Euthenics is a branch of science that
aims to better different aspects of the
environment in order to improve
humans' wellbeing and/or the wellbeing
of other living things.
Keep in mind that the environment
includes many different components
such as food, water, organisms, and air
quality.
Examples of
Euthenics
 Water treatment plants are examples of euthenics
in action.
 Though many of us enjoy the benefits of
treatment plants without a thought, you wouldn't
take it for granted if you lived somewhere
without adequate sewer systems.
 Water treatment plants clean water that is
contaminated. We get clean drinking water so
that we don't have to drink water containing
harmful bacteria, parasites, carcinogens, or
mutagens.
 Water treatment plants carry out euthenics
because they keep all types of diseases down by
cleaning the water that we drink, shower in, and
use for cooking.
 Another common example of euthenics is the
use of vaccines. Vaccines prevent people from
developing certain diseases.
 Vaccines include gene vaccines and vaccines that
can help prevent cancer.
 The bigger premise behind widespread vaccine
use is that we can eliminate deadly and
debilitating diseases altogether by making sure
everyone is vaccinated.
Genetically
modifiedfruits
andvegetables
 Euthenics has been at work for some time
now in our food supply.
 Scientists have created genetically modified
vegetables and fruits that grow faster and stay
edible for a longer period of time.
 Scientists have also altered fruits and
vegetables by creating some that naturally
repel insects to prevent them from
consuming the food before we do.
 These euthenic measures have helped our
species because there is more food available
for us to consume.
Lawsforfoetus
protection
 Laws for the protection of the foetus from
environmental harm may be described as euthenics
e.g.
• Government-required warnings on alcohol and
cigarette containers that drinking or smoking while
pregnant may harm the fetus.
 Adding iodine to salt (to prevent thyroid deficiency),
 vitamin D to milk (to prevent rickets),
 Folic acid to cereal products (to prevent spina bifida)
are other examples, as is vaccinating women for
rubella to prevent rubella in the fetus (rubella may
damage the fetus).
 Eugenics is hygiene for the future generations.
 Euthenics is hygiene for the present generation.
 Euthenics precedes eugenics, developing better
men now, and thus inevitably creating a better
race of men in the future. Euthenics is the term
proposed for the preliminary science on which
Eugenics must be based.
Terminology
One of the first known authors to make
use of the word euthenics was Ellen
Swallow Richards (1842-1911) in her
book The Cost of Shelter (1905). She
used the word euthenics to mean “the
science of better living.”
In 1926, the Daily Colonist summarized
euthenics as “efficient living.”
In 1967, Technology Week went on to
define euthenics as “man’s
environmental opportunity,” “his
education.”
Eugenics
Eugenics is science of
improving human species
by selectively mating
people with specific
desirable heriditary traits.
History
In1869, an English scientist, Sir
Francis Galton (also cousin of
Charles Darwin) coined the phrase
eugenics, which is now defined as
the study of human genetics and of
particular methods to improve
mental and physical characteristics
that are inherited.
In his book Hereditary Genius.
Positiveand
negative
eugenics
 Individuals with traits such as dwarfism or
Down syndrome. This is defined as “negative
eugenics.”
 The movie Gattaca provides a fictional example
of a dystopian society that uses eugenics to
decide what people are capable of and their place
in the world.
 Negative eugenics aimed to eliminate, through
sterilization or segregation, those deemed
physically, mentally, or morally "undesirable".
This includes abortions, sterilization, and other
methods of family planning.
Positive
Eugenics
 The encouragement of the procreation of those
individuals who are healthy and intelligent
would be defined as “positive eugenics.”
 Positive eugenics is aimed at encouraging
reproduction among the genetically advantaged;
 For example, the reproduction of the intelligent,
the healthy, and the successful.
Eugenics
movementin
U.S
 The eugenics movement began in the U.S. in the late 19th century.
However, unlike in Britain, eugenicists in the U.S. focused on
efforts to stop the transmission of negative or “undesirable” traits
from generation to generation.
 In response to these ideas, some US leaders, private citizens, and
corporations started funding eugenical studies.
 The ERO spent time tracking family histories and concluded that
people deemed to be unfit more often came from families that
were poor, low in social standing, immigrant, and/or minority.
 Further, ERO researchers “demonstrated” that the undesirable
traits in these families, such as pauperism, were due to genetics,
and not lack of resources.
Rules to
establish
Eugenics
Stricter immigration rules were
enacted,
 but the most ominous resolution was a
plan to sterilize “unfit” individuals to
prevent them from passing on their
negative traits.
During the 20th century, a total of 33
states had sterilization programs in
place.
Sterilization
 While at first sterilization efforts targeted
mentally ill people exclusively,
 later the traits deemed serious enough to
warrant sterilization included alcoholism,
criminality chronic poverty, blindness,
deafness, feeble-mindedness, and promiscuity.
 It was also not uncommon for African American
women to be sterilized during other medical
procedures without consent. Most people subjected
to these sterilizations had no choice, and because
the program was run by the government, they had
little chance of escaping the procedure.
 It is thought that around 65,000 Americans were
sterilized during this time period.
 The eugenics movement in the U.S. slowly lost
favor over time and was waning by the start of
World War II.
Is it legal
Nazi
Eugenics
Nazi Eugenics
 Biological campaign on improvement of Aryan race
or Germanic Ubermenschen is part of Nazi
ideology.
 400, 000 people were sterilized.
 300, 000 people were killed.
 Hadamar clinic
 Action T4
 Gas chamber and buses.
 Grafeneck castle.
Criticism
 A criticism of eugenics policies is that, regardless of
whether negative or positive policies are used,
 they are susceptible to abuse because the genetic
selection criteria are determined by whichever group
has political power at the time.
 Furthermore, many criticize negative eugenics in
particular as a violation of basic human rights.
 Another criticism is that eugenics policies eventually lead
to a loss of genetic diversity.
 thereby resulting in inbreeding depression due to a loss of
genetic variation.
 It have severe effects on Evolution.
 Loss of genetic diversity
 Eugenic policies may lead to a loss of genetic
diversity. Further, a culturally-accepted
"improvement" of the gene pool may result in
extinction, due to increased vulnerability to
disease, reduced ability to adapt to environmental
change, and other factors that may not be
anticipated in advance.
Islamand
Eugenics
 Both Islamic law and tradition generally
condemn abortion, which is permitted only if
the mother's life is endangered
 Both religious law and tradition do include
references to a man's choosing an appropriate
wife, but these concerns have been interpreted
as moral and social, rather than eugenic.
 A woman may be married for four reasons:
for her property, her status, her beauty, and
her religion; so try to get one who is
religious"
There is no law to suggest choosing a
marriage partner with the intention of
improving the progeny through the
control of hereditary factors
Moreover, in the case of a person
drinking wine, the Prophet (P.B.U.H)
regarded it permissible to annul the
marriage contract, especially, if the
person was alcoholic
 Sex selection is not acceptable except for
medical reasons in gender related disease.
 Some jusists permit gene manipulation if
abnormalities with physical or physiological
harm.
 surgeries to treat congenital deformaties to
restore normal shape or function of organ is
permissible.
Islam permits prenatal diagnosis as good
if it is used to treat fetus against risks.
If deformed child is born to Muslim
Islam tells parents to accept it with love
and affection.
Kill not your children on plae of want
we provide sustanance for you and for
them.
Choose well your mate (for your
semen) as (the hidden) traits can
reappear.
 There came a person to the Prophet ‫ﷺ‬from
Banu Fazara and said: My wife has given birth
to a child who is black, whereupon Allah’s
Apostle ‫ﷺ‬said: Have you any camels? He said:
Yes. He again said: What is this [sic: read
their] colour? He said: They are red. He said:
Is there a dusky one among them? He said: Yes,
there are dusky ones among them[.] He said:
How has it come about? He said: It is perhaps
the strain (`irq) to which it has reverted,
whereupon he (the Prophet) said: It is perhaps
the strain (`irq) to which he (the child) has
reverted
Eugenicsin
Judaism
 It is thought that Eugenics implementation is
allowed in Judaism after Nazi Hitlerian era.
 It is prohibited in Jewish law to marry a women
from family of epileptics or lepers lest illness.
 On basis of higher frequency of defective births
resulting from blood relatives.
 Rabbi Judah in his ethical will prohibit
marriages between first cousins.
 eugenics is permissible in Judaism when used
for treatment or prevention of disease.
Cristanity and
Eugenics
Amy Laura Hall written an interesting
article titled For Shame that cristian
should welcome rather than stigmatize
favor of one trait is eugenics.
Auther of Fewer and Better Babies
predict that working class parents who
produced more than two children would
eventually be considered anti social as
criminal of communities.
Genetic
couseling
 Genetic counseling is the process of advising
individuals and families affected by or at risk of
genetic disorders to help them understand and adapt
to the medical, psychological and familial implications
of genetic contributions to disease.
 The process integrates:
 Interpretation of family and medical histories to
assess the chance of disease occurrence or
recurrence
 Education about inheritance, testing,
management, prevention, resources
 Counseling to promote informed choices and
adaptation to the risk or condition.
Genetic
counselors
 Many health conditions run in families. Doctors call
these “genetic” or “hereditary” conditions. If you
have a parent or grandparent with a serious health
problem, you may want to know if you’re at high
risk for the disease. Likewise, you may want to
know if you or your partner could pass along a
hereditary condition to your baby.
 To get some answers to these questions, you might
consider genetic counseling. Genetic counselors do
more than just help you understand the chances that
a hereditary condition could pass from one
generation to another. They can also help you deal
with the emotional side of how genetic conditions
can affect a family.
Where Will the
Counseling Take
Place?
e?
 Genetic counselors usually work in a hospital or clinic. But
they also work in public health departments, laboratories,
universities, and other educational institutions. Some of the
areas they specialize in include:
 Infertility
 Cancer
 Cardiovascular health
 Cystic fibrosis
 Fetal intervention and therapy
 Hematology
 Pediatrics
 Personalized medicine
 Prenatal health
Role of Genetic Counselors
Genetic counselors help identify families
at possible risk of a genetic condition.
gathering and analyzing family history
and inheritance patterns and calculating
chances of recurrence.
Howwill
someone know
that sheneeds
counseling
Someone might consider genetic counselling if you have an
inherited condition or there is a chance you have an
inherited condition because it runs in your family.
 If a women Is pregnant she might want to speak with a
genetic counsellor about the likelihood of your baby
having any congenital disorders.
 Other reasons you might want to have genetic
counselling include:
 if prenatal tests reveal an abnormality or a risk of an
abnormality with fetus
 if Someone is thinking of having a child with a relative.
 if Someone been exposed to a chemical or environmental
agent during pregnancy and want to know if it may cause
birth defects
What canbe
expectedin
genetic
counseling
sessions
 Genetic counselling sessions usually combine
many different elements:
 talking about your family and any illnesses or
conditions that are common in your family
 learning about specific conditions and how they
are inherited
 finding out what tests are available
 talking about how to manage and prevent the
condition
 learning what support and resources exist.
Processof
genetic
counseling
 In general, a genetic counseling session aims to:
 Increase the family’s understanding of a genetic
condition
 • Discuss options regarding disease
management and the risks and benefits of
further testing and other options
 Help the individual and family identify the
psychosocial tools required to cope with
potential outcomes.
 Reduce the family’s anxiety
Patient Education
 Many patients rely heavily on their primary healthcare
providers for information related to their condition.
 In general, though, patients will require information providers
may not have.
 Before providing patients with any educational materials,
providers should be sure to check that the information is current
and produced by a credible source.
Reasonsfor
genetic
counseling
 Based on your personal and family health history,
your doctor can refer you for genetic counseling.
There are different stages in your life when you
might be referred for genetic counseling:
 Planning for Pregnancy: Genetic counseling
before women to become pregnant can address
concerns about factors that might affect your baby
during infancy or childhood or your ability to
become pregnant, including
 Genetic conditions that run in your family or
your partner’s family
 History of infertility, multiple miscarriages, or
stillbirth
Tests during
pregnancy
 During Pregnancy: Genetic counseling during
pregnancy can address certain tests.
 Any abnormal test results, such as a blood test,
ultrasound, Chorionic Villus Sampling (CVS),
or amniocentesis
 Maternal infections, such as Cytomegalovirus (CMV)
and other exposures such as medicines drugs, chemicals,
and x-rays
 Genetic screening that is recommended for all pregnant
women, which includes cystic fibrosisexternal
icon, sickle cell disease, and any conditions that run in
your family or your partner’s family
 Caring for Children: Genetic counseling can
address concerns if your child is showing signs
and symptoms of a disorder that might be
genetic, includingAbnormal newborn
screening results
 Birth defects
 Intellectual disability or developmental
disabilities
 Autism spectrum disorders (ASD)
 Vision or hearing problems
Stepsthatare
beingtaken
Managing Your Health: Genetic counseling for
adults includes specialty areas such as cardiovascular,
psychiatric, and cancer.
 Hereditary breast and ovarian cancer
(HBOC) syndrome
 Lynch syndrome (hereditary colorectal and other
cancers)
 Familial hypercholesterolemia
 Muscular dystrophy and other muscle diseases
 Inherited movement disorders such as Huntington’s
diseaseexternal icon
 Inherited blood disorders such as sickle cell disease
 It has been described that
 almost all monogenic disorders can be
eradicated
 / eliminated by genetic counselling or
awareness
 among people. Genetic clinics can also deal
with
 a number of clinical problems such as birth
 defects, developmental delay, autism, epilepsy,
 short stature, etc.
Clinicalgenetics
inPakistan
 There is a vast scope of clinical genetics in
Pakistan because of consanguinity.
 which is as high as 80 percent .
 The common practice of preference to marry a
cousin and / or near or
 distant blood relative has led to a culture of
marriage bondage within intra caste or isonym
groups all over Pakistan.
 Our rural population
 is almost totally ignorant of deleterious effects
of consanguinity.
 In urban areas less than 20 percent people
know about harmful effects of the so called
“cousin marriage”
 Recent studies have explained severity of such
disorders in Pakistan
 polydactyly and inherited retinal disease.
 Elite class of Pakistani community, including
doctors, lawyers, medical students and
members of parliament are very positive for
genetic diagnosis at an early stage.
 It was also found that the families of patients
suffering genetic disorders also showed very
positive attitudes for genetic diagnosis as they
are well aware about their sufferings
 It has also been surveyed that 77% of our elite
class favours premarital screening of carriers of
recessive Disease
 As genetic counselling is still not a part of
Pakistani healthcare system,
 it has been described that more than 90% of
our medical doctors are ready to refer their
routine patients to the genetic counsellors if
they found some possible genetic defects.
 Some common genetic disorders are
 Thalassemia, cystic fibrosis, Duchene
 muscular dystrophy, hereditary breast
 cancer (BRCA1, BRCA 2), Huntington
 disease, deafness, etc.
 Disorders due to chromosomal aberrations are many and
worldwide:
 some very common are: Down syndrome, DiGeorge
 syndrome (22q11.2 deletion syndrome), fragile X
 syndrome, Turner syndrome,
 Many disorders cannot occur unless both
the mother and father pass on their genes,
such as cystic fibrosis; this is known
as autosomal recessive inheritance.
 Other autosomal dominant diseases can be
inherited from one parent, such
as Huntington disease and DiGeorge
syndrome.(heart problems, specific facial
features, frequent infections, developmental
delay, learning problems and cleft palate.)
 Yet other genetic disorders are caused by an
error or mutation occurring during the cell
division process (e.g. aneuploidy) and are not
hereditary.
Types of genetic
counselling
 Psychiatric genetics
 Adult genetics
 ART geneticc
 Cardiovascular genetics
 Hereditary cancer genetics
 Neurogenetics
 Pediatric genetics
 Prenatal genetics
Thank you all

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Euthenics eugenics and genetic counselling

  • 1. Euthenics, Eugenics and genetic counseling Nizad sultana Department of Zoology University of Gujrat
  • 2. These are branches of science that tend to improve our life better.
  • 3.
  • 4. Euthenics Euthenics is the study of the improvement of human functioning and well-being by improvement of living conditions. Human well being in present generation.
  • 5. Improvement” is conducted by altering external factors :-  education  controllable environment prevention and removal of contagious disease and parasites, environmentalism, education regarding employment, home economics, sanitation, and housing.
  • 6.  Euthenics is a branch of science that aims to better different aspects of the environment in order to improve humans' wellbeing and/or the wellbeing of other living things. Keep in mind that the environment includes many different components such as food, water, organisms, and air quality.
  • 7. Examples of Euthenics  Water treatment plants are examples of euthenics in action.  Though many of us enjoy the benefits of treatment plants without a thought, you wouldn't take it for granted if you lived somewhere without adequate sewer systems.  Water treatment plants clean water that is contaminated. We get clean drinking water so that we don't have to drink water containing harmful bacteria, parasites, carcinogens, or mutagens.  Water treatment plants carry out euthenics because they keep all types of diseases down by cleaning the water that we drink, shower in, and use for cooking.
  • 8.  Another common example of euthenics is the use of vaccines. Vaccines prevent people from developing certain diseases.  Vaccines include gene vaccines and vaccines that can help prevent cancer.  The bigger premise behind widespread vaccine use is that we can eliminate deadly and debilitating diseases altogether by making sure everyone is vaccinated.
  • 9. Genetically modifiedfruits andvegetables  Euthenics has been at work for some time now in our food supply.  Scientists have created genetically modified vegetables and fruits that grow faster and stay edible for a longer period of time.  Scientists have also altered fruits and vegetables by creating some that naturally repel insects to prevent them from consuming the food before we do.  These euthenic measures have helped our species because there is more food available for us to consume.
  • 10. Lawsforfoetus protection  Laws for the protection of the foetus from environmental harm may be described as euthenics e.g. • Government-required warnings on alcohol and cigarette containers that drinking or smoking while pregnant may harm the fetus.  Adding iodine to salt (to prevent thyroid deficiency),  vitamin D to milk (to prevent rickets),  Folic acid to cereal products (to prevent spina bifida) are other examples, as is vaccinating women for rubella to prevent rubella in the fetus (rubella may damage the fetus).
  • 11.  Eugenics is hygiene for the future generations.  Euthenics is hygiene for the present generation.  Euthenics precedes eugenics, developing better men now, and thus inevitably creating a better race of men in the future. Euthenics is the term proposed for the preliminary science on which Eugenics must be based.
  • 12. Terminology One of the first known authors to make use of the word euthenics was Ellen Swallow Richards (1842-1911) in her book The Cost of Shelter (1905). She used the word euthenics to mean “the science of better living.” In 1926, the Daily Colonist summarized euthenics as “efficient living.” In 1967, Technology Week went on to define euthenics as “man’s environmental opportunity,” “his education.”
  • 13. Eugenics Eugenics is science of improving human species by selectively mating people with specific desirable heriditary traits.
  • 14. History In1869, an English scientist, Sir Francis Galton (also cousin of Charles Darwin) coined the phrase eugenics, which is now defined as the study of human genetics and of particular methods to improve mental and physical characteristics that are inherited. In his book Hereditary Genius.
  • 15. Positiveand negative eugenics  Individuals with traits such as dwarfism or Down syndrome. This is defined as “negative eugenics.”  The movie Gattaca provides a fictional example of a dystopian society that uses eugenics to decide what people are capable of and their place in the world.  Negative eugenics aimed to eliminate, through sterilization or segregation, those deemed physically, mentally, or morally "undesirable". This includes abortions, sterilization, and other methods of family planning.
  • 16. Positive Eugenics  The encouragement of the procreation of those individuals who are healthy and intelligent would be defined as “positive eugenics.”  Positive eugenics is aimed at encouraging reproduction among the genetically advantaged;  For example, the reproduction of the intelligent, the healthy, and the successful.
  • 17.
  • 18. Eugenics movementin U.S  The eugenics movement began in the U.S. in the late 19th century. However, unlike in Britain, eugenicists in the U.S. focused on efforts to stop the transmission of negative or “undesirable” traits from generation to generation.  In response to these ideas, some US leaders, private citizens, and corporations started funding eugenical studies.  The ERO spent time tracking family histories and concluded that people deemed to be unfit more often came from families that were poor, low in social standing, immigrant, and/or minority.  Further, ERO researchers “demonstrated” that the undesirable traits in these families, such as pauperism, were due to genetics, and not lack of resources.
  • 19. Rules to establish Eugenics Stricter immigration rules were enacted,  but the most ominous resolution was a plan to sterilize “unfit” individuals to prevent them from passing on their negative traits. During the 20th century, a total of 33 states had sterilization programs in place.
  • 20. Sterilization  While at first sterilization efforts targeted mentally ill people exclusively,  later the traits deemed serious enough to warrant sterilization included alcoholism, criminality chronic poverty, blindness, deafness, feeble-mindedness, and promiscuity.
  • 21.  It was also not uncommon for African American women to be sterilized during other medical procedures without consent. Most people subjected to these sterilizations had no choice, and because the program was run by the government, they had little chance of escaping the procedure.  It is thought that around 65,000 Americans were sterilized during this time period.  The eugenics movement in the U.S. slowly lost favor over time and was waning by the start of World War II.
  • 23. Nazi Eugenics Nazi Eugenics  Biological campaign on improvement of Aryan race or Germanic Ubermenschen is part of Nazi ideology.  400, 000 people were sterilized.  300, 000 people were killed.  Hadamar clinic  Action T4  Gas chamber and buses.  Grafeneck castle.
  • 24.
  • 25. Criticism  A criticism of eugenics policies is that, regardless of whether negative or positive policies are used,  they are susceptible to abuse because the genetic selection criteria are determined by whichever group has political power at the time.  Furthermore, many criticize negative eugenics in particular as a violation of basic human rights.  Another criticism is that eugenics policies eventually lead to a loss of genetic diversity.  thereby resulting in inbreeding depression due to a loss of genetic variation.  It have severe effects on Evolution.
  • 26.  Loss of genetic diversity  Eugenic policies may lead to a loss of genetic diversity. Further, a culturally-accepted "improvement" of the gene pool may result in extinction, due to increased vulnerability to disease, reduced ability to adapt to environmental change, and other factors that may not be anticipated in advance.
  • 27. Islamand Eugenics  Both Islamic law and tradition generally condemn abortion, which is permitted only if the mother's life is endangered  Both religious law and tradition do include references to a man's choosing an appropriate wife, but these concerns have been interpreted as moral and social, rather than eugenic.  A woman may be married for four reasons: for her property, her status, her beauty, and her religion; so try to get one who is religious"
  • 28. There is no law to suggest choosing a marriage partner with the intention of improving the progeny through the control of hereditary factors Moreover, in the case of a person drinking wine, the Prophet (P.B.U.H) regarded it permissible to annul the marriage contract, especially, if the person was alcoholic
  • 29.  Sex selection is not acceptable except for medical reasons in gender related disease.  Some jusists permit gene manipulation if abnormalities with physical or physiological harm.  surgeries to treat congenital deformaties to restore normal shape or function of organ is permissible.
  • 30. Islam permits prenatal diagnosis as good if it is used to treat fetus against risks. If deformed child is born to Muslim Islam tells parents to accept it with love and affection. Kill not your children on plae of want we provide sustanance for you and for them.
  • 31. Choose well your mate (for your semen) as (the hidden) traits can reappear.
  • 32.  There came a person to the Prophet ‫ﷺ‬from Banu Fazara and said: My wife has given birth to a child who is black, whereupon Allah’s Apostle ‫ﷺ‬said: Have you any camels? He said: Yes. He again said: What is this [sic: read their] colour? He said: They are red. He said: Is there a dusky one among them? He said: Yes, there are dusky ones among them[.] He said: How has it come about? He said: It is perhaps the strain (`irq) to which it has reverted, whereupon he (the Prophet) said: It is perhaps the strain (`irq) to which he (the child) has reverted
  • 33. Eugenicsin Judaism  It is thought that Eugenics implementation is allowed in Judaism after Nazi Hitlerian era.  It is prohibited in Jewish law to marry a women from family of epileptics or lepers lest illness.  On basis of higher frequency of defective births resulting from blood relatives.  Rabbi Judah in his ethical will prohibit marriages between first cousins.  eugenics is permissible in Judaism when used for treatment or prevention of disease.
  • 34. Cristanity and Eugenics Amy Laura Hall written an interesting article titled For Shame that cristian should welcome rather than stigmatize favor of one trait is eugenics. Auther of Fewer and Better Babies predict that working class parents who produced more than two children would eventually be considered anti social as criminal of communities.
  • 35.
  • 36. Genetic couseling  Genetic counseling is the process of advising individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.  The process integrates:  Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence  Education about inheritance, testing, management, prevention, resources  Counseling to promote informed choices and adaptation to the risk or condition.
  • 37. Genetic counselors  Many health conditions run in families. Doctors call these “genetic” or “hereditary” conditions. If you have a parent or grandparent with a serious health problem, you may want to know if you’re at high risk for the disease. Likewise, you may want to know if you or your partner could pass along a hereditary condition to your baby.  To get some answers to these questions, you might consider genetic counseling. Genetic counselors do more than just help you understand the chances that a hereditary condition could pass from one generation to another. They can also help you deal with the emotional side of how genetic conditions can affect a family.
  • 38. Where Will the Counseling Take Place? e?  Genetic counselors usually work in a hospital or clinic. But they also work in public health departments, laboratories, universities, and other educational institutions. Some of the areas they specialize in include:  Infertility  Cancer  Cardiovascular health  Cystic fibrosis  Fetal intervention and therapy  Hematology  Pediatrics  Personalized medicine  Prenatal health
  • 39. Role of Genetic Counselors Genetic counselors help identify families at possible risk of a genetic condition. gathering and analyzing family history and inheritance patterns and calculating chances of recurrence.
  • 40. Howwill someone know that sheneeds counseling Someone might consider genetic counselling if you have an inherited condition or there is a chance you have an inherited condition because it runs in your family.  If a women Is pregnant she might want to speak with a genetic counsellor about the likelihood of your baby having any congenital disorders.  Other reasons you might want to have genetic counselling include:  if prenatal tests reveal an abnormality or a risk of an abnormality with fetus  if Someone is thinking of having a child with a relative.  if Someone been exposed to a chemical or environmental agent during pregnancy and want to know if it may cause birth defects
  • 41. What canbe expectedin genetic counseling sessions  Genetic counselling sessions usually combine many different elements:  talking about your family and any illnesses or conditions that are common in your family  learning about specific conditions and how they are inherited  finding out what tests are available  talking about how to manage and prevent the condition  learning what support and resources exist.
  • 42. Processof genetic counseling  In general, a genetic counseling session aims to:  Increase the family’s understanding of a genetic condition  • Discuss options regarding disease management and the risks and benefits of further testing and other options  Help the individual and family identify the psychosocial tools required to cope with potential outcomes.  Reduce the family’s anxiety
  • 43. Patient Education  Many patients rely heavily on their primary healthcare providers for information related to their condition.  In general, though, patients will require information providers may not have.  Before providing patients with any educational materials, providers should be sure to check that the information is current and produced by a credible source.
  • 44. Reasonsfor genetic counseling  Based on your personal and family health history, your doctor can refer you for genetic counseling. There are different stages in your life when you might be referred for genetic counseling:  Planning for Pregnancy: Genetic counseling before women to become pregnant can address concerns about factors that might affect your baby during infancy or childhood or your ability to become pregnant, including  Genetic conditions that run in your family or your partner’s family  History of infertility, multiple miscarriages, or stillbirth
  • 45. Tests during pregnancy  During Pregnancy: Genetic counseling during pregnancy can address certain tests.  Any abnormal test results, such as a blood test, ultrasound, Chorionic Villus Sampling (CVS), or amniocentesis  Maternal infections, such as Cytomegalovirus (CMV) and other exposures such as medicines drugs, chemicals, and x-rays  Genetic screening that is recommended for all pregnant women, which includes cystic fibrosisexternal icon, sickle cell disease, and any conditions that run in your family or your partner’s family
  • 46.  Caring for Children: Genetic counseling can address concerns if your child is showing signs and symptoms of a disorder that might be genetic, includingAbnormal newborn screening results  Birth defects  Intellectual disability or developmental disabilities  Autism spectrum disorders (ASD)  Vision or hearing problems
  • 47. Stepsthatare beingtaken Managing Your Health: Genetic counseling for adults includes specialty areas such as cardiovascular, psychiatric, and cancer.  Hereditary breast and ovarian cancer (HBOC) syndrome  Lynch syndrome (hereditary colorectal and other cancers)  Familial hypercholesterolemia  Muscular dystrophy and other muscle diseases  Inherited movement disorders such as Huntington’s diseaseexternal icon  Inherited blood disorders such as sickle cell disease
  • 48.  It has been described that  almost all monogenic disorders can be eradicated  / eliminated by genetic counselling or awareness  among people. Genetic clinics can also deal with  a number of clinical problems such as birth  defects, developmental delay, autism, epilepsy,  short stature, etc.
  • 49. Clinicalgenetics inPakistan  There is a vast scope of clinical genetics in Pakistan because of consanguinity.  which is as high as 80 percent .  The common practice of preference to marry a cousin and / or near or  distant blood relative has led to a culture of marriage bondage within intra caste or isonym groups all over Pakistan.
  • 50.  Our rural population  is almost totally ignorant of deleterious effects of consanguinity.  In urban areas less than 20 percent people know about harmful effects of the so called “cousin marriage”
  • 51.  Recent studies have explained severity of such disorders in Pakistan  polydactyly and inherited retinal disease.  Elite class of Pakistani community, including doctors, lawyers, medical students and members of parliament are very positive for genetic diagnosis at an early stage.  It was also found that the families of patients suffering genetic disorders also showed very positive attitudes for genetic diagnosis as they are well aware about their sufferings
  • 52.  It has also been surveyed that 77% of our elite class favours premarital screening of carriers of recessive Disease  As genetic counselling is still not a part of Pakistani healthcare system,  it has been described that more than 90% of our medical doctors are ready to refer their routine patients to the genetic counsellors if they found some possible genetic defects.
  • 53.  Some common genetic disorders are  Thalassemia, cystic fibrosis, Duchene  muscular dystrophy, hereditary breast  cancer (BRCA1, BRCA 2), Huntington  disease, deafness, etc.  Disorders due to chromosomal aberrations are many and worldwide:  some very common are: Down syndrome, DiGeorge  syndrome (22q11.2 deletion syndrome), fragile X  syndrome, Turner syndrome,
  • 54.  Many disorders cannot occur unless both the mother and father pass on their genes, such as cystic fibrosis; this is known as autosomal recessive inheritance.  Other autosomal dominant diseases can be inherited from one parent, such as Huntington disease and DiGeorge syndrome.(heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.)
  • 55.  Yet other genetic disorders are caused by an error or mutation occurring during the cell division process (e.g. aneuploidy) and are not hereditary.
  • 56. Types of genetic counselling  Psychiatric genetics  Adult genetics  ART geneticc  Cardiovascular genetics  Hereditary cancer genetics  Neurogenetics  Pediatric genetics  Prenatal genetics