the top six things everyone should know about genetics
TRANSCRIPT
THE TOP SIX THINGS EVERYONE SHOULD KNOW ABOUT GENETICS
Dr. Joann Boughman, PhDExecutive Vice President, ASHG
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
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
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
Dominant inheritance
Recessive inheritance
Recessive disorders and traits
Cystic fibrosis Tay-Sachs disease Sickle cell anemia Metabolic disorders
Complex Traits
Common disorders: 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
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
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:
Genes and Environment
Genetic makeup is constant
Genes are NOT deterministic
Environment is extremely important
The coffee cup story
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:
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. 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
Use this or another guide to draw a tree of your own that represents (and records) your family’s medical history
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.
Birth defects Diabetes Cancer (list specific Hearing loss Heart disease Multiple miscarriages Physical abnormalities Psychiatric disorders Stroke
Grandfather Grandmother
Father Mother
YouSisterBrother
NieceNephew
AuntUncle
Half-sister(same mother,different father)
Grandfather Grandmother
Mexico
PregnancyLoss
8 weeks
England and Germany
UncleAdopted
First cousinsTwins
Non-identical
221824
2 6 months
High blood pressure High cholesterol
60’sColon cancer
70’s Breast cancer
(diagnosed 68)
65Heart attack
27
50 49
85
4762
30’s-40’s
3 2First cousin
23
47
20
Club foot
Pedigree guides
GA or ASHG website Multiple guides available
My family history story
Things to Remember for #’s 7-8
Genetics important to everyone
Building partnerships to advance genetic research, education and advocacy is KEY!
Genetics
Important to everyone
All consumers/patients Your family history story Your medical history
Scientists and researchers
Building Partnerships
What is ASHG’s 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…
MOST IMPORTANT OF ALL:
Remember to take into account:
PERSPECTIVE & CONTEXT
