Transcript The heart institute research core

Genetic Counseling
Becky Bettin
May 24, 2011
Raymond Walters College
Goal
• To engage you in the world of genetics and
clarify any misconceptions about genetics
and the genetic counseling profession
through discussion and active learning
What do you know about Genetic
Counseling?
• Turn to your neighbor and discuss what you
know or have heard about genetic
counseling:
Definition
What they do
Where they work
Who has known someone who has seen a
genetic counselor?
Objectives
• Describe the four major roles of a clinical
genetic counselor
• Define non-directive counseling and describe
why it’s a genetic counselor’s guiding
principle
• List the four major areas a genetic counselor
would practice
• Explain the reasons for and benefits of
genetic services
Definition
• “Genetic counseling is the process of helping
people understand and adapt to the medical,
psychological and familial implications of
genetic contributions to disease”
– National Society of Genetic Counselors 2006
Brief History
• Genetic info used for a long time
– Didn’t circumcise brothers of bleeders, societal taboos against
marriage of relatives
• Mid 1900s- purview to Public Health-genetics to better the
human race
• 1947- term Genetic Counseling coined
• 1969 - Sarah Lawrence started first GC program
• 1970 - GC Profession is born
• 1975 - ASHG first defined GC
• 1979 - NSGC formed
• 1993 - ABGC was created to certified GCs
• As of today:
– ~3000s practicing GCs in US
– 30 accredited programs in US
Roles of a Genetic Counselor
1. Interpret family and medical history to
assess the chance (risk) of disease
occurrence or recurrence
2. Education about inheritance, testing,
management, prevention, resources and
research
3. Counseling to promote informed choices and
adaptation to the risk or condition
4. Serve as advocates to empower patients
Interpret family and medical history to
assess the chance (risk) of disease
occurrence or recurrence
• HOW?
• Create a Pedigree
• Look for patterns
with in the family
• Use statistical
models
• Research from the
Boys are Squares; Girls are Circles
literature
Draw your family
What are some genetic traits,
conditions or diseases that can be
passed down through families?
Color blindness
Cleft chin
Widow’s peak hair line
Rolling your tongue
What are some genetic traits,
conditions or diseases that can be
passed down through families?
Duchenne Muscular Dystrophy
Hemophilia
Cystic fibrosis
• Huntington Disease
• Some Cancer
What about Down Syndrome?
What is responsible for carrying this
information?
• ALL our cells contain DNA
• Packaged as Chromosomes
• Contain Genes
Chromosomes
• Contain all of our
genetic material, tell
our bodies how to
grow and develop
• 23 pairs = 46
chromosomes
• In each pair one is
from Mom and one is
from Dad
• Females are typically
XX, males are XY
Inheritance
• Autosomal: the gene responsible is located
on one of the 22 pairs of autosomes (non-sex
determining chromosomes).
– Dominant: conditions that are manifest in just one
copy of the changed gene.
– Recessive: conditions are only manifest in
individuals who have two copies of the changed
gene.
• X-linked: the gene that encodes for the trait
is located on the X sex chromosome.
Counseling to promote informed
choices
• Rogers Person Centered Care
– Positive view of humans and trust in self for
greater inner directedness
 Unconditional Positive Regard - see the best in all
people
 Empathy - strive to stand in the patient’s shoes
 Counselor Genuineness - formation of an open
relationship where patient’s feel safe and free to
explore their thoughts and emotions
Counseling to promote informed
choices
• Non-directive Counseling – Guiding Principle
– Intention of enabling clients to make independent,
informed decisions free from coercion
– GCs direct the process of the session, but are
careful not to direct the outcome
– GCs need to be aware of their own bias, and
intentions
How does this differ from the medical model?
Areas of Practice
• Prenatal
– Infertility, multiple miscarriage, still birth or early
infant death
– Pregnant women at high risk for a genetic
condition like cystic fibrosis or sickle cell anemia
– Advanced Maternal Age (over 35)
– Interpretation of prenatal screening tests
Areas of Practice
• Pediatrics
– Children with
• multiple birth defects
– (CL/CP, heart defects, clenched hands, clubfeet)
• developmental delay
– (not meeting their milestones for motor skills,
speech)
– Children with a known genetic conditions
• (Down syndrome, William syndrome, tuberous
sclerosis)
Areas of Practice
• Cancer
– Personal or family history of cancer
• Breast/Ovarian
• Colon
• Adult
– Family history
• Huntington Disease
Genetic Testing
Chromosomes
Sequencing
FISH
Microarray
Discrimination Protection
• HIPAA, 1996
– Health Insurance Privacy and Accountability Act
• Protects health information from being shared
• GINA, 2008
– Genetic Information Non-discrimination Act
• prohibits the improper use of genetic information in
health insurance and employment.
Questions, Comments?
• QUIZ 
– Name the 4 roles a clinical genetic counselor
– List the 3 primary areas of practice
– What do the circles and squares mean in a
pedigree
– List one benefit of genetic services
Evaluate Me:
– Please write down:
• What you liked about my presentation
• How you think it could be improved