THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS Dr. Joann Boughman, PhD Executive Vice Presid

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THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT
GENETICSDr. Joann Boughman, PhDExecutive Vice
President, ASHG
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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

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Gene transmission

• Genes come in pairs
• 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

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Gene transmission

• 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

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Dominant inheritance
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Recessive inheritance
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Recessive disorders and traits

• Cystic fibrosis
• Tay-Sachs disease
• Sickle cell anemia
• Metabolic disorders

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Complex Traits

• Common disorders
• Diabetes
• Heart Disease
• Psychiatric disorders

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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

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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

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Mutations

• A mutation is a change in the DNA
• Mutations in germ cells can be passed on
• Mutations can be
• Undetectable or neutral
• Variants
• Changes are the source of variations
• The story of the judges

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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

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Genes and Environment

• Genetic makeup is constant
• Genes are NOT deterministic
• Environment is extremely important
• The coffee cup story

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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

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Family History

• Assessing your family health history is the MOST
  IMPORTANT genetic test!
• It is also the EASIEST and CHEAPEST way to assess
  your disease risk.
• Its 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

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• To Draw Your Family Tree
• Use this or another guide to draw a tree of your
  own that represents (and records) your familys
  medical history
• Collect information from your family members
  about disorders and medical conditions such as
  those listed below. Also note the persons age at
  diagnosis, if known.
• Birth defects
• Diabetes
• Cancer (list specific Hearing loss
• Heart disease
• Multiple miscarriages
• Physical abnormalities
• Psychiatric disorders
• Stroke

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England and Germany
Mexico
Grandfather
Grandmother
Grandfather
Grandmother
60s Colon cancer
70s Breast cancer (diagnosed 68)
65 Heart attack
85
Pregnancy Loss 8 weeks
Father
Mother
Aunt
Uncle
Uncle Adopted
50
49
47
62
High blood pressure
High cholesterol
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2
Twins Non-identical
First cousins
First cousin
Half-sister (same mother,different father)
30s-40s
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Sister
You
Brother
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22
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Club foot
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Niece
Nephew
2
6 months
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Pedigree guides

• GA or ASHG website
• Multiple guides available
• My family history story

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Things to Remember for s 7-8

• Genetics important to everyone
• Building partnerships to advance genetic
  research, education and advocacy is KEY!

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Genetics

• Important to everyone
• All consumers/patients
• Your family history story
• Your medical history
• Scientists and researchers

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Building Partnerships

• What is ASHGs Role in Genetics?
• Annual Meetings / AJHG Journal
• Advisory Boards Committees
• Advocacy partnerships
• Coalition for Genetic Fairness
• Genetic Alliance
• Education Community Outreach Projects
• Education programs for teachers students K-12
• Family History
• See www.ashg.org for more

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MOST IMPORTANT OF ALL

• Remember to take into account
• PERSPECTIVE CONTEXT

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