Transcript the top six things everyone should know about genetics

THE TOP SIX THINGS
EVERYONE SHOULD KNOW
ABOUT GENETICS
Dr. Joann Boughman, PhD
Executive Vice President, ASHG
THE TOP SIX THINGS EVERYONE
SHOULD KNOW ABOUT GENETICS:
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Laws of Inheritance
Genes, DNA and Cells
Genetic Stability
Genetic Variation
Genes and Environment
Family Health History
Gene transmission
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Genes come in pairs
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The puppy story
One from Mom & one from Dad
A gene is as instruction
A dominant gene takes only 1 copy to
express
A recessive gene takes 2 copies or double
dose
Complex traits require multiple genes
Gene transmission
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Genes come in pairs
One from Mom & one from Dad
A gene is as instruction
A dominant gene takes only 1 copy
to express
A recessive gene takes 2 copies or
double dose
Complex traits requires multiple
genes
Dominant inheritance
Recessive inheritance
Recessive disorders and traits
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Cystic fibrosis
Tay-Sachs disease
Sickle cell anemia
Metabolic disorders
Complex Traits
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Common disorders:
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Diabetes
Heart Disease
Psychiatric disorders
THE TOP SIX THINGS EVERYONE
SHOULD KNOW ABOUT GENETICS:






Laws of Inheritance
Genes, DNA and Cells
Genetic Stability
Genetic Variation
Genes and Environment
Family Health History
THE TOP SIX THINGS EVERYONE
SHOULD KNOW ABOUT GENETICS:






Laws of Inheritance
Genes, DNA and Cells
Genetic Stability
Genetic Variation
Genes and Environment
Family Health History
Mutations
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A mutation is a change in the DNA
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Mutations in germ cells can be passed on
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Mutations can be
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Undetectable or neutral
Variants
Changes are the source of variations
The story of the judges
THE TOP SIX THINGS EVERYONE
SHOULD KNOW ABOUT GENETICS:






Laws of Inheritance
Genes, DNA and Cells
Genetic Stability
Genetic Variation
Genes and Environment
Family Health History
Genes and Environment
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Genetic makeup is constant
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Genes are NOT deterministic
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Environment is
important
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extremely
The coffee cup story
THE TOP SIX THINGS EVERYONE
SHOULD KNOW ABOUT GENETICS:






Laws of Inheritance
Genes, DNA and Cells
Genetic Stability
Genetic Variation
Genes and Environment
Family Health History
Family History
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Assessing your family health history is the
MOST IMPORTANT genetic test!
It is also the EASIEST and CHEAPEST way
to assess your disease risk.
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It’s not difficult to create a family tree and it
costs nothing.
Anyone can use the free online tools provided
by organizations such as:
 ASHG
 U.S. Surgeon General
 Genetic Alliance
To Draw Your Family Tree
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Use this or another guide to draw a tree of your own that
represents (and records) your family’s medical history
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Collect information from your family members about disorders
and medical conditions such as those listed below. Also note the
person’s age at diagnosis, if known.
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Birth defects
Diabetes
Cancer (list specific Hearing loss
Heart disease
Multiple miscarriages
Physical abnormalities
Psychiatric disorders
Stroke
England and Germany
Mexico
Grandfather Grandmother
85
65
Heart attack
Pregnancy
Loss
8 weeks
Uncle
62
Aunt
47
Grandfather Grandmother
60’s
70’s
Colon cancer
Breast cancer
(diagnosed 68)
Father
50
High cholesterol
Mother
49
High blood pressure
Uncle
Adopted
47
3 2
First cousins
30’s-40’s
First cousin
23
Brother
24
Sister
18
Club foot
Nephew Niece
2
6 months
You Half-sister
(same mother,
22
different father)
27
Twins
Non-identical
20
Pedigree guides
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GA or ASHG website
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Multiple guides available
My family history story
Things to Remember for #’s 7-8
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Genetics important to everyone
Building partnerships to advance
genetic research, education and
advocacy is KEY!
Genetics
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Important to everyone
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All consumers/patients
Your family history story
 Your medical history
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Scientists and researchers
Building Partnerships
What is ASHG’s Role in Genetics?
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Annual Meetings / AJHG Journal
Advisory Boards & Committees
Advocacy partnerships
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Coalition for Genetic Fairness
Genetic Alliance
Education & Community Outreach Projects
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Education programs for teachers & students K-12
Family History
See www.ashg.org for more…
MOST IMPORTANT OF ALL:
Remember to take into account:
PERSPECTIVE & CONTEXT