Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
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: 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 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 Genetic makeup is constant Genes are NOT deterministic Environment is important 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 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 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 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