Genetic counselling

1. Genetic Counseling
By: Kyle Hollis 4

2. What is Genetic Counseling?
• Medical education of affected individuals and the
general public concerning inherited disorder.
• Genetics counselors are health care professionals
with specialized graduate degrees and experience
in medical genetics and counseling.

3. What do Genetics Counselors
Do?
• Work as members of a healthcare team
• Assess the risk of a genetic disorder by
researching a persons family history and
evaluating medical records
• Provide support and information to help a person
make a decision about testing
• Interpret results of medical tests and data
• Explain possible treatments or preventative
measures
• Discuss reproductive options

4. When to see a Genetics
Counselor
• About 3% of babies are born with birth defects
each year, according to the U.S. Centers for
Disease Control and Prevention - and of the
malformations that do occur, the most
common are also among the most treatable.
• The best time to seek genetic counseling is
before becoming pregnant, when a counselor
can help assess your risk factors. But even
after you become pregnant, a meeting with a
genetic counselor can still be helpful.

5. Techniques
• Karyotype • Aminocentesis
Tests for abnormalities of
chromosomes 1

6. Techniques
• This is a common test
used to determine the
risk of a child having a
genetics disorder that
his ancestors were
carriers for
Pedigree Analysis
2

7. How to find a genetics
counselor?
• Your doctor may refer you to a genetic
counselor. Universities and medical centers
also often have affiliated genetic counselors,
or can provide referrals to a counselor or
genetics clinic.
• There are also counselors who are specialized
for different diseases.
• ResourceLink [nsgc.org]
• Genetic Centers, Clinics and Departments
[kumc.edu]
• GeneClinics [geneclinics.org]

8. Resources
1. http://www.givf.com/pren_test.cfm
2. www.cerezyme.com/.../ cz_hc_disease-genetics.asp
3.http://www.ornl.gov/sci/techresources/Human_Genome/me
dicine/genecounseling.shtml
4. http://geneticcounseling.genetics.utah.edu/