1. Genetic screening ,Genetic Counselling and
their Applications
Presented by
Ena Athaide
MSc – 2,Sem-4
INSTITUTE OF SCIENCE,
MUMBAI

3. Genetic screening
• Genetic screening is normally done to check
for certain genes that potentially produce
damaging changes in the individuals.
purpose to dectect
• Chromosomal abnormalities
• DNA changes
• Protein /Biochemical changes

4. Types of Genetic Disorders
• Chromosomal
Down Syndrome, Turner Syndrome
• Single Gene
Sickle Cell Anemia, Cystic Fibrosis
• Complex
Birth defects, most cancers

5. Types of Genetic Screening
• Types
• Newborn screening
• Prenatal diagnosis
• Carrier testing

6. Benefits of Genetic Screening
• Diagnosis
• Reduce testing
• Appropriate intervention (prevention,
management, treatment)
• Informed decisions
• Reproductive choices

7. Risks of Genetic Screening
• Risk of miscarriage
• Psychological impact
• Family relations
• Insurance issues/concerns
• Privacy

8. Summary of Genetic Screening
• Detection of chromosomal, DNA, or protein
changes which can cause or predispose to
disease.
• It can be beneficial by limiting testing, allow
informed decisions and can lead to
appropriate intervention.
• There is also a risk of losing privacy,
impacting a person psychologically, impacting
family relations, and possible insurance
issues.

9. Genetic counselling
• increase understanding of genetic diseases,
• discuss disease management options, and explain
the risks and benefits of testing.
• Counseling sessions focus on giving vital,
unbiased information and non-directive assistance
in the patient's decision making process.
• If counselees wish to go ahead with testing, an
appointment is organized and the genetic
counselor acts as the person to communicate the
results.

10. Applications of Genetic Screening
• Diagnostic testing
• Predictive genetic testing
• Presymptomatic genetic testing
• Carrier testing
• Prenatal diagnosis
• Preimplantation studies
• Newborn screening

11. • Centers for Disease Control and Prevention.
Centers for Disease Control and Prevention.
Available at URL: http://www.cdc.gov/.
• Genetic Screening for Birth Defects Patient Fact
Sheet. American Society for Reproductive
Medicine. Birmingham: 1998.
• March of Dimes Birth Defects Foundation. March
of Dimes. Available at URL: www.modimes.org.
• National Cancer Institute. Understanding Gene
Testing. Available at URL:
http://press2.nci.nih.gov/sciencebehind/genetesting/
genetesting00.htm.
• Understanding Gene Testing. US Department of
Health and Human Services.

12. • Hodgson JM et al. 2010. “Testing Times,
Challenging Choices”: An Australian Study of
Prenatal Genetic Counseling. J Genet
Counsel 19:22-37.
• Singer E et al. 2008. Trends in U.S. Attitudes
toward Genetic Testing, 1990-2004. Public
Opinion Quarterly 72(3):446-458.