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

2. 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

3. 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

4. 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

5. Dominant inheritance

6. Recessive inheritance

7. Recessive disorders and traits  Cystic fibrosis  Tay-Sachs disease  Sickle cell anemia  Metabolic disorders

8. Complex Traits  Common disorders: Diabetes Heart Disease Psychiatric disorders

9. 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

12. 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

14. 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

15.  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:

16. Genes and Environment  Genetic makeup is constant  Genes are NOT deterministic  Environment is extremely important  The coffee cup story

17.  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:

18. 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 ASHG  U.S. Surgeon General  Genetic Alliance

19. 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

20. GrandfatherGrandmother FatherMother You Sister Brother NieceNephew AuntUncle Half-sister (same mother, different father) GrandfatherGrandmother Mexico Pregnancy Loss 8 weeks England and Germany Uncle Adopted First cousins Twins Non-identical 22 18 24 2 6 months High blood pressure High cholesterol 60’s Colon cancer 70’s Breast cancer (diagnosed 68) 65 Heart attack 27 50 49 85 4762 30’s-40’s 3 2 First cousin 23 47 20 Club foot

21. Pedigree guides  GA or ASHG website Multiple guides available  My family history story

24. Things to Remember for #’s 7-8  Genetics important to everyone  Building partnerships to advance genetic research, education and advocacy is KEY!

25. Genetics  Important to everyone  All consumers/patients  Your family history story  Your medical history  Scientists and researchers

26. 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…www.ashg.org

27. MOST IMPORTANT OF ALL: Remember to take into account: PERSPECTIVE & CONTEXT