the top six things everyone should know about genetics

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