Pedigree- The Genetic Family Tree

Transcription

1 Pedigree- The Genetic Family Tree CATHERINE MARTIN, M.ED. NATIONAL NETWORK LIBRARIES OF MEDICINE NEW ENGLAND REGION

2 Objectives q Evaluate family genetics in health q Discover the basics of pedigree lines for family health q Identify evidence-based, reliable genetic resources

3 Why use genetic testing? q Disease or health risk q Ancestry or genealogy q Kinship (biologically related) q Lifestyle

4 Potential Family History Questions Age and cause of death? Anyone where glasses at a young age? Age of diagnosis? Ethnicity and race Did anyone see a doctor on a regular basis? Did anyone have multiple miscarriages? Did anyone take medicine on a regular basis? Smoker/alcohol use?

5 Basic Pedigree Lines Family & Gender symbols. Marriage/Mating Line: horizontal line connecting 2 symbols at the center of each symbol Basic symbols Living Unaffected female: Clear circle Separated, Divorce, Relationship no longer exists Line: horizontal line connecting 2 symbols with 2 diagonal hash marks Living Unaffected male: Clear square Deceased male of female: Circle or square with diagonal line

6 Basic Pedigree Lines siblings/offspring Sibling Line: Horizontal line above the offspring and connected by vertical lines. Example: brother and sister siblings. Brother and sister siblings with two parents Children from a previous partner (stepchildren). Ex. Mike and Jane have one son, and Jane has a daughter from a previous marriage.

7 Genetic Pedigree Line offspring No children: A vertical line with 2 hash marks at the end. Indicate if an adult does not have children by choice (c), infertility (i) c i

8 Maternal grandparents (2 nd cousins) d.88 y.o. d.86 y.o. dx. Colon CA d. 57 y.o. d. 90 y.o. dx. MVA dx. Bladder CA Paternal grandparents Key Parents Colon cancer Bladder cancer Cerebral vascular Accident (CVA) 96 years old d. 86 y.o. dx. CVA 78 y.o. First and Second-degree relatives

9 Lebanese German/Dutch English/Scottish Key Maternal grandparents were 2 nd cousins Colon cancer Bladder cancer d.88 d.86 y.o. dx. 86 y.o. Colon CA Parents d. 57 d. 90 y.o. MVA dx. 88y.o. Bladder ca non smoker Paternal grandparents Small bowel cancer Cerebral Vascular Accident (CVA) Multiple Sclerosis (MS) 96 y. o. dx. 95 y.o. MI d. 87 y.o. seizure d. 93 y.o. dx. 78 y.o. CVA dx. Bowel obstruction 51 y.o. 50 y.o. 48 y.o. d y.o dx. 37 y.o. Multiple sclerosis First and second degree relatives

10 Red flags in the family history tree q Bilateral disease Ex. BRCA dx. 78 right breast vs. BRCA dx. 42 both breasts (BReast CAncer susceptibility gene) q Diagnosis at a younger age than the general population age for disease risk q Consanguinity q Dysmorphologies (

11 Lebanese German/Dutch English/Scottish Maternal grandparents were 2 nd cousins d.88 d.42 y.o. dx. 36 y.o. Colon CA d. 57 d. 90 y.o. MVA dx. 88y.o. Bladder CA non smoker Paternal grandparents Key Parents Colon cancer Bladder cancer 96 y. o. d. 87 y.o. seizure d. unknown dx. 45 y.o. MI dx. 78 y.o. CVA Small bowel cancer Cerebral Vascular Accident (CVA) Multiple Sclerosis (MS) 51 y.o. 50 y.o. dx. 48 y.o. d y.o dx. 37 y.o. MS First-degree relatives

12 Genetic Home Reference National Institute of Health Resource without advertisements Evidence-based information and easy-tounderstand articles It s Free!

13 GARD: Genetic and Rare Diseases Information Center

14 Learn.Genetics /content/history/

15 Certification for Consumer Health Information Specialist

16 What Is the All of Us Research Program? All of Us is a new research program from the National Institutes of Health (NIH). The goal is to advance precision medicine. Precision medicine is health care that is based on you as an individual. It takes into account factors like where you live, what you do, and your family health history. Precision medicine s goal is to be able to tell people the best ways to stay healthy. If someone does get sick, precision medicine may help health care teams find the treatment that will work best. To get there, we need one million or more people. Those who join will share information about their health over time. Researchers will study this data. What they learn could improve health for generations to come. Participants are our partners. We ll share information back with them over time.

17 Resources q Certified Health Information Specialist (CHIS) q Genetic Home Reference q How to Draw a Pedigree Chart q Genetic and Rare Diseases Information Center (GARD) q Medical Library Association q National Network Library of Medicine New England Region q Genetic Alliance (My Family Health Portrait) q Genome: Unlocking Life s Code q GeneEd: Genetics, Education, Discovery q Healthy Community Tools for Public Libraries

18 Resources, cont. The Office of the Surgeon General: My Family Health Portrait (Tool that allows you to enter, print and update your family health history) The American Medical Association provides family history tools The National Institute of Aging provides suggestions on how to obtain a health history from older individuals Educational Resources related to family health history Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. CHAPTER 2, DIAGNOSIS OF A GENETIC DISEASE. Available from:

19 Thank you!