INTRODUCTION
HISTORY
GENES INVOLVED IN CANCER
ONCOGENES
TUMOUR SUPPRESSOR GENES
ONCOGENE
INTRODUCTION
TYPES
ACTIVATION OF PROTO ONCOGENES
FUNCTION
TUMOUR SUPPRESSOR GENES
INTRODUCTION
EXAMPLE
RB GENE
TP53 GENE
CONCLUSION
REFERENCES
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
INTRODUCTION
HISTORY
GENES INVOLVED IN CANCER
ONCOGENES
TUMOUR SUPPRESSOR GENES
ONCOGENE
INTRODUCTION
TYPES
ACTIVATION OF PROTO ONCOGENES
FUNCTION
TUMOUR SUPPRESSOR GENES
INTRODUCTION
EXAMPLE
RB GENE
TP53 GENE
CONCLUSION
REFERENCES
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
Molecular diagnosis of genetic disease ppt for studentsthirupathiSathya
DEFINITION:
Dna analysis can be used for the identification of carriers of hereditary disorders.
For prenatal diagnosis of serious genetic conditions yearly diagnosis before the onset of symptoms is done MOLECULAR DIAGNOSIS OF GENETIC DISEASE
CYSTIC FIBROSIS:
Cystic fibrosis is a genetic disease that affect mostly lungs and also the pancreas.
Screening test:
It is a complex process
Large number of genetic alterations have to be done.
For eg : It is the one of the most common lethal autosomal recessive disorder in Europe.
It is caused by mutations to cystic fibrosis transmembrane conductance regulator(CFTR) gene .
Screening individuals who may be at risk for cystic fibrosis for 500 different mutations is a daunting task.
Diagnosis test that screen for a large number of mutations of a single gene in one assay being developed.
SICKLE CELL ANEMIA:
It is a disorder where red blood cells become rigid and sticky and are shaped like “sickle”.
This irregularly shaped cells stucks in small blood vessels which can slow and block the blood flow and oxygen to all the parts of the body.
There’s no cure for sickle cell anemia.
Screening for sickle cell anemia:
SCA is a genetic disease that is the result of a single nucleotide change in the codon for the sixth aminoacid of the β- chain of the hemoglobin molecule.
The anemia is caused by the inability of the mutated hemoglobin to carry sufficient oxygen.
Target – probe hybridasation is done.
Recombinant baculoviruses are widely used to
express heterologous genes in cultured insect cells
and insect larvae. For large-scale applications, the
baculovirus expression vector system (BEVS) is particularly
advantageous.
HGP was conceived in 1984 & officially begun in earnest in October 1990.
HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome.
In 1997, United States established the National Human Genome Research Institute (NHGRI).
The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.
Topics included - Introduction; explanation; examples like blue white screening method, antibiotic resistance; Extra information regarding - detection of oncogene in vertebrates and role of sleeping beauty; Merits and demerits of insertional inactivation.
The chain-termination method developed by Frederick Sanger and coworkers in 1977. This method used fewer toxic chemicals and lower amounts of radioactivity than the Maxam and Gilbert method. Because of its comparative ease, the Sanger method was soon automated and was the method used in the first generation of DNA sequencers.
Molecular diagnosis of genetic disease ppt for studentsthirupathiSathya
DEFINITION:
Dna analysis can be used for the identification of carriers of hereditary disorders.
For prenatal diagnosis of serious genetic conditions yearly diagnosis before the onset of symptoms is done MOLECULAR DIAGNOSIS OF GENETIC DISEASE
CYSTIC FIBROSIS:
Cystic fibrosis is a genetic disease that affect mostly lungs and also the pancreas.
Screening test:
It is a complex process
Large number of genetic alterations have to be done.
For eg : It is the one of the most common lethal autosomal recessive disorder in Europe.
It is caused by mutations to cystic fibrosis transmembrane conductance regulator(CFTR) gene .
Screening individuals who may be at risk for cystic fibrosis for 500 different mutations is a daunting task.
Diagnosis test that screen for a large number of mutations of a single gene in one assay being developed.
SICKLE CELL ANEMIA:
It is a disorder where red blood cells become rigid and sticky and are shaped like “sickle”.
This irregularly shaped cells stucks in small blood vessels which can slow and block the blood flow and oxygen to all the parts of the body.
There’s no cure for sickle cell anemia.
Screening for sickle cell anemia:
SCA is a genetic disease that is the result of a single nucleotide change in the codon for the sixth aminoacid of the β- chain of the hemoglobin molecule.
The anemia is caused by the inability of the mutated hemoglobin to carry sufficient oxygen.
Target – probe hybridasation is done.
Recombinant baculoviruses are widely used to
express heterologous genes in cultured insect cells
and insect larvae. For large-scale applications, the
baculovirus expression vector system (BEVS) is particularly
advantageous.
HGP was conceived in 1984 & officially begun in earnest in October 1990.
HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome.
In 1997, United States established the National Human Genome Research Institute (NHGRI).
The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.
Topics included - Introduction; explanation; examples like blue white screening method, antibiotic resistance; Extra information regarding - detection of oncogene in vertebrates and role of sleeping beauty; Merits and demerits of insertional inactivation.
The chain-termination method developed by Frederick Sanger and coworkers in 1977. This method used fewer toxic chemicals and lower amounts of radioactivity than the Maxam and Gilbert method. Because of its comparative ease, the Sanger method was soon automated and was the method used in the first generation of DNA sequencers.
genetic testing for mothers and childrenpooja kajla
Genetics is the branch of science that deals with the study of heredity
Term ‘Gene’ was coined in by Johannsen in 1909
Mr. Johann Gregor Mendel(1822-1884) is “Father of Genetics”
When a lady visits her Obstetrician, she may be advised Ultrasonography Scan at some stage in pregnancy. It is a frequently asked question as to how many scans should she undergo during pregnancy? When? Why? (for what purpose?). I have explained this in simplified manner. Ultrasonography is an ideal and safe screening tool in pregnancy.
Reproductive Genetics: Introduction to Genetic Testing Optionskanew396
GenomeSmart can help you navigate the different reproductive genetic testing options to allow you to make informed decisions for the health of yourself and your family.
GENETIC TESTING: Introduction, definition, methods: molecular, chromosomal and biochemical, indications, types: preimplantation, forensic, newborn, carrier, prenatal, ethical, social and legal issues, interpretation of tests, risks and limitations, role of nurse
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
Follow us on: Pinterest
Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
HOT NEW PRODUCT! BIG SALES FAST SHIPPING NOW FROM CHINA!! EU KU DB BK substit...GL Anaacs
Contact us if you are interested:
Email / Skype : kefaya1771@gmail.com
Threema: PXHY5PDH
New BATCH Ku !!! MUCH IN DEMAND FAST SALE EVERY BATCH HAPPY GOOD EFFECT BIG BATCH !
Contact me on Threema or skype to start big business!!
Hot-sale products:
NEW HOT EUTYLONE WHITE CRYSTAL!!
5cl-adba precursor (semi finished )
5cl-adba raw materials
ADBB precursor (semi finished )
ADBB raw materials
APVP powder
5fadb/4f-adb
Jwh018 / Jwh210
Eutylone crystal
Protonitazene (hydrochloride) CAS: 119276-01-6
Flubrotizolam CAS: 57801-95-3
Metonitazene CAS: 14680-51-4
Payment terms: Western Union,MoneyGram,Bitcoin or USDT.
Deliver Time: Usually 7-15days
Shipping method: FedEx, TNT, DHL,UPS etc.Our deliveries are 100% safe, fast, reliable and discreet.
Samples will be sent for your evaluation!If you are interested in, please contact me, let's talk details.
We specializes in exporting high quality Research chemical, medical intermediate, Pharmaceutical chemicals and so on. Products are exported to USA, Canada, France, Korea, Japan,Russia, Southeast Asia and other countries.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Ocular injury ppt Upendra pal optometrist upums saifai etawah
Gene screen technology
1.
2. •Systematic application of testing designed to
identify individuals in a given population who are at
higher risk of having or developing a particular
disorder of or having a gene mutation for a particular
disorder.
•Newest and most sophisticated of the techniques
used to test for genetic disorders.
•One of the fastest moving fields in medical science.
•Determines the risk of having or passing on a genetic
disorder.
3. • Used to detect faulty or abnormal genes in an
organism.
• Detect some genes related to an increased risk of
cancer.
• Detect some genes known to cause genetic
disorders.
4. CRITERIAS
Genetic screening should not be performed
unless a number of conditions are met.
1. Condition to be screened for should be
serious.
2. Diagnostic methodology should be
adequate.
5. 3.The condition must be sufficiently frequent
to make the programme economically feasible.
4. The individual identified as at risk must have
.
some options, preferably either effective early
treatments or prenatal diagnosis.
6. TYPES OF SCREENING
There are three principle types of genetic
screening
Prenatal genetic screening
Carrier screening
Newborn screening
7. PRENATAL SCREENING
Also called as fetal screening
Prenatal screening identifies disease in fetus.
It makes possible averting the unwanted birth
of a child with a genetic condition.
The purpose of prenatal diagnosis is to
detect significant defects in fetus.There is
now a variety of techniques,each of which
has unique advantages and disadvantages.
8.
9. Amniocentesis
Amniocentesis is a surgical tap into the uterus to
obtain amniotic fluid.
The amniotic fluid can be analyzed to determine the
genetic status of fetus.
Initially used for the diagnosis of the disease
erythroblastosis fetalis.
The procedure can be performed at 14 weeks
gestation or later. It is most commonly done
between 15-19 weeks.
10. • Currently the most common indication for genetic
amniocentesis is an increased abnormalities in the
fetus.
• Helpful in diagnosis of open fetal defects such as
neural tube or ventral wall defects.
• Early amniocentesis is generally defined as
amniocentesis less then 14 weeks of gestation which
may lead to high risk of pregnancy loss.
11. Chorionic Villus Sampling
Chorionic Villus Sampling is a procedure for
placental biopsy.
It is the removal of a piece of chorion,the outer
tissue surrounding the embryo.
The tissue sample is used to analyze
chromosome ,biochemical and DNA status.
Chorionic Villus Sampling for common genetic
indications is performed at 10-12 weeks of
gestation.
12. Percutaneous Umbilical Blood
Sampling(PUBS)
It is a fetal blood sample test that takes
measurements of fetus blood
components.
These results are used to clarify other test
results.
13. Ultra sonogram
One of the most common screening procedures
during pregnancy.
A transducer sends a sound wave that provides a
picture of the fetus.
The procedure is used to date the
pregnancy,assess structure and position of the
fetus.
14. Maternal serum markers
alpha fetoprotein is most abundant globular serum
protein fetus. Large amounts of AFP are found in
fetal blood and fetal tissues. Increased or
decreased levels of AFP may indicate a variety of
fetal abnormalities.
Decreased levels of unconjugated oestrol and the
increased levels of human chorionic
gonadotropin (HCG) are associated with fetal
Down syndrome.
15. •Combining information from these markers provides
a more accurate estimate of fetal Down syndrome
risk than any one factor alone.
•This is commonly offered to patients at
approximately 15-18 weeks of pregnancy.
16. Pre-implantation
Also called pre-implantation genetic
diagnosis(PGD),is a specialized technique that
can reduce the risk of having a child with a
particular genetic or chromosomal disorder.
It is used to detect genetic changes in embryos
that were created using assisted reproductive
techniques such as in-vitro fertilization.
17. CARRIER SCREENING
The usual purpose in identifying carriers is to
detect a risk for having a child with a serious
recessive disease.
In the united states, pregnant women are
commonly offered carrier screening for sickle
trait if African American or latina,thalassaemia
trait if mediterranean,asian or African American
origin and Tay-sachs trait if Jewish.
18. • If the women proves to be a carrier, screening is
offered to father of the fetus, if he too is a carrier,
prenatal diagnosis is offered.
19. NEWBORN SCREENING
New born screening is used just after birth to
identify genetic disorders that can be used early in
life.
Blood sample is tested for genetic disorders.
All states currently test infants for phenylketonuria
and congenital hypothyroidism.
Benefits-reduced morbidity and mortality of
children and cost savings to society.
Risks-parental anxiety about false positive results,
harm that causes parent-child relationship.
20. BENEFITS
It provides a sense of relief from uncertainity and
help people make informed decisions about
managing their health care.
For eg:negative result: can eliminate need for
unnecessary checkups and screening tests in
some cases.
Positive result: can direct a person toward
available prevention, monitoring an treatment
options.
21. Limitations
Risk of losing pregnancy because they require a
sample of amniotic fluid or tissue from around
the fetus.
Involves emotionl,social or financial
consequences of the test results.
Provide only limited informations about
inherited conditions.
Lack of treatment strategies for many genetic
disorders once they are diagnosed.
22. ETHICAL CONSIDERATIONS
Should be voluntary
Only newborn screening for serious genetic
diseases is commonly mandated.
Screenee should make an informed choice, he
should be informed about not just the benefits
but also the risks and limitations.
Test result should be confidential
Both the biomedical community and the public
need to acquire a better understanding of
human genetics