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8/6/2019 genetics and health, Bala MBBS
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PREVENTIVE & SOCIAL MEASURES
Genetics & health
By BALASUBRAMANIAM.S
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PREVENTIVE & SOCIAL MEASURES
HEALTH PROMOTIONAL MEASURES
SPECIFIC PROTECTION
EARLY DIAGNOSIS & TREATMENT
REHABILITATION
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HEALTH PROMOTIONAL MEASURES
EUGENICS
EUTHENICS
GENETIC COUNSELLING
OTHER GENETIC PREVENTIVE MEASURES
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EUGENICS
It is a science aims to improve genetic
endowment of human population.
POSITIVE EUGENICS NEGATIVE EUGENICS
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NEGATIVE EUGENICS
Hitler sought to improve German race by Killing
the weak and defective.
People who are suffering from seriousH
ereditarydiseases are Debarred from producing children.
Its not possible to eliminate genetic defects
because of fresh mutations.
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POSITIVE EUGENICS
Improve the genetic composition by making thepersons to realize the burden of parenthood.
E.g.
Improve traits for intelligence and positive character,say ² blood groups.
Disadvantage
Multi factorial,Difficult to expect direct results
Cannot determine the gene we transmit
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EUTHENICS
Improved genotype is given access to suitable
environment. It makes them to express readily.
Interaction between hereditary andenvironmental factors.
E.g.
Mentally retarded child improved IQ on exposureto certain environmental factors.
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GENETIC COUNSELLING
Prospective genetic counseling
Retrospective genetic counseling
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PROSPECTIVE GENETIC COUNSELING
´ Identifying the heterozygous individuals &
explaining them risk of having affected
children.
Used for
´ Sickle cell anemia
´
Thalassemia
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RETROSPECTIVE GENETIC
COUNSELING
´ It is the most used now a days.
´ Identifying the family in which the hereditary
disorder has already occurred.´ WHO - congenital anomalies, mental
retardation, inborn errors of metabolism.
´
It can be done in developed areas or wherethese problems contribute serious public
health problems.
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OTHER GENETIC PREVENTIVE MEASURES
Consanguineous marriages
´ Increased risk in traits receiving recessive genes,& those determined by poly genes.
´ Albinism
´ Alkaptonuria
´ PKU.
In japan deaths rate of 116 per 1000 was found in1st 8yrs of life among offspring of first cousinsagainst 55 among controls.
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Late marriages
Trisomy21 ² mongolism more frequent in elderly
mothers.Incidence in mother at age 20
1:3000
Incidence in mother at age 401:40
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SPECIFIC PROTECTION
´ Protecting the individuals from mutations.
´ Avoiding unnecessary exposure of gonads to
radiation.E.g.
X-ray for twin pregnancy & lie of foetus.
Anti-D for erythroblatosis foetalis
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EARLY DIAGNOSIS & TREATMENT
Detection of genetic carriers
Prenatal diagnosis
Screening of newborn infants
Recognizing preclinical cases
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DETECTION OF GENETIC CARRIERS
´ Identify the healthy carriers of genetic disorders& inborn metabolic errors.
´ Elevated serum levels of serum creatine kinase
can be detected from 80% of female carriers of duchenne type of muscular dystrophy.
´ Moderate amount of carriers can be detected
fromH
emophilia, PKU, Galectosaemia.´ No method to distinguish carriers of
Alkaptonuria.
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PRENATAL DIAGNOSIS
´ Amniocentesis in early pregnancy [14-16wks] canreveal
Chromosomal abnormalities ² Down·s syndrome.
Inborn errors of metabolism ²
Alpha thalessemmia
Neural tube defects
Tay-sach·sGalactosemia
Maple syrup urine disease
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Indications methods
Advanced maternal age,Previous child with
chromosome aberration,
Intrauterine growth delay
Cytogenitics (amniocentesis,
chorionic villus sampling)
Biochemical disorders Protein assay, DNA diagnosis
Congenital anomaly Sonography, foetoscopy
Screening for neural tube
defects and trisomy
Maternal serum alpha fetal
protein, chorionic
gonadotrophin.
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SCREENING OF NEWBORN INFANTS
It can be done for
Genetic abnormalities
´ Sex Chromosomal abnormalities
´ Congenital dislocation of the hip
´ PKU
´ Congenital Hypothyroidism
´ Sickle cell disease
´ Cystic fibrosis
´ G6pd congenital adrenal hyperplasia
´ Duchenne type of muscular dystrophy
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RECOGNIZING PRECLINICAL CASES
Lists of screening test for recognizing
hereditary diseases.
´ Heterozygous of PKU ² Phenyl alanine tolerancetest.
´ Urine examination of sugar ² Diabetics.
´ Uric acid- gout.
´ GTT - Sibs & close relatives of diabetics ² acholuric jaundice.
´ Blood picture ² Thalessemmia minor.
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Type of service Condiions Preventive or
screening action
Primary prevention Rh hemolytic diseaseCongenital rubella
Congenital malformations
Use ² antiDImmunization of girls
Addition of folic acid
Control of maternal diabetes
Avoidance of mutagens
Antenatal screening Congenital malformations
Chromosomal abnormalities
Inherited disease
USG, maternal alpha feto
protein
Maternal age, serum factor,
family history
Carriers for Tay sach·s,
hemoglobinopathies
Neonatal screening Congenital malformations
PKU
Congenital Hypothyroidism
Sickle cell disease
Examination of new born for
early treatment (congenital
dislocation)
Biochemical tests for early
treatment
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REH ABILITATION
It can be done for patients having physical and
mental disability to lead a better and useful
life.
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