The family history

Question 1

why we obtain fam hx

Answer 1

Well established method used to recognize genetic disorders and susceptibilities that may pose risks for future health problems
Can identify single gene disorders or chromosomal abnormalities that affect multiple family members. Disorders can be common (colon cancer) or rare (cystic fibrosis)
More commonly disease susceptibility is identified. Disease development is multifactorial – genetics, environment, lifestyle choices
Knowledge of the family history improves patient care!
Early identification of disease risk can improve, delay or potentially prevent adverse health outcomes
Personalized prevention plans can be developed based on individual patient risk

Question 2

transition statement

Answer 2

“Now I would like to ask you about your family members, any medical conditions they may have or had, as well as any medical conditions that seem to run in your family. Because some medical conditions have a genetic aspect I will be better able to monitor your health by knowing this information about your family.”

Question 3

most common diseases come from combo of

Answer 3

environmental factor and variations in multiple genes

Question 4

sx suggestive of single gene disease

Answer 4

examples in chart

Question 5

common disease is caused by inherited mutation in single gene, fam hx allows for

Answer 5

earlier diagnosis due to screening. allow management to prevent complications

Question 6

fhx red flags

Answer 6

breast, ovarian, colon, endometrial, diabeted, ht, heart disease
sudden death in seemed healthy
individual or couple with 3 or more pregnancy losses
common disorders with earlier age of onset than typical
-breast, colon, prostate cancer, vision/hearing loss, dementia (under 60), heart disease, cva

Question 7

red flags that prompt genetic coundeling

Answer 7

1. Significant FHx of cancer – especially breast, ovarian, prostate, colon, melanoma, leukemias/lymphomas and pancreatic
2. Cancer occurs in every generation
3. Early age of onset for disease (see previous slide)
4. Conditions in the less-often-affected sex
   -Example: breast cancer in male relative
5. Bilateral cancer or multiple primary cancers in one person
6. Known family genetic mutation
7. Ethnicity predisposition to certain genetic disorders
   -Example: Ashkenazi Jewish population
8. Consanguinity - marriage in families

Question 8

detailed info on

Answer 8

at least 3 generations

Question 9

children
parents
siblings

Answer 9

50% shared genes
1st degree

Question 10

aunts/uncles
grandparents
half-siblings
neices and nephews

Answer 10

25% shared genes
2nd degree

Question 11

1st cousins
great-grandparents

Answer 11

12.5%
3rd degree

Question 12

for each fam member ask about

Answer 12

For each family member:
Status – alive or deceased
Current age or age at the time of death
Ethnicity
Medical conditions with age of onset
Remember to ask about adoptions, pregnancy loss, mental health disorders/addiction d/o

Question 13

ways to document

Answer 13

prose-not used here
list
pedigree (most helpful)

Question 14

instructions- save time

Answer 14

I am going to name various members of your family. For each relative named please tell me
If the are currently living or deceased
Current age or age at the time of death
Any medical conditions that person has or had and how old he/she was when diagnosed if possible.
Anything else that you feel is important about the specific medical condition (ex: very hard to treat etc…..)”

Question 15

list document must include

Answer 15

Relationship to patient
Status: alive or deceased
-May use up or down arrow
Age (current/at death)
Medical diagnoses
-If deceased, first list the cause of death then other medical conditions if multiple diagnoses
Two additional statements
1. Major medical illnesses in extended family members
2. List of medical illnesses not present in the family

Question 16

Family History:
Maternal grandmother ↓- age 72, COPD
Maternal grandfather ↓ - age 94, CVA, CAD, NIDDM
Paternal grandmother ↓ -age 80’s, cause unknown to patient
Paternal grandfather ↓ - age unknown, cause unknown to patient
Mother ↑ -age 52, IDDM, Hypothyroidism
Father ↑ - age 53, Graves disease, HTN
Sister ↑ -age 27, Migraines, Asthma
Brother ↑ age 22 A&W
Daughter ↑ age 3 A&W
Daughter ↑ age 21 months Eczema
FHx positive for Chronic Fatigue Syndrome in maternal aunt, IDDM in 2 paternal cousins and cirrhosis in paternal uncle.
No known FHX of Cancer, kidney disease, psychiatric disorders, bleeding disorders/anemia, GI disorders.

Answer 16

correct order

Question 17

list in oder

Answer 17

grandparents
parents
siblings
children

Question 18

Provides the most information about potential inherited risk

Time consuming

Many digital options that will create the pedigree after data has been entered

Expectation for H&P 1 – basic understanding in how to READ

Answer 18

pedigree

Question 19

chart showing symbols in pedigree

Question 20

7 basic steps for drawing a pedigree

Answer 20

Identify the Proband (Patient), Spouse and Children
Proband’s Parents
Proband’s Siblings
Siblings’ Spouses & Children
Maternal side of family
Paternal side of family
Shade for suspected geno/phenotype

Question 21

Begin with the patient and record data:
-Name: First & Last (if different from Father)
-Age (date of birth)
-Death cause with date of Diagnosis
-Other Health Issues with important Diagnosis dates
Spouse
Children

CM
55 y.o.
dx. meniere’s disease 45 y.o.

Answer 21

proband

Question 22

step 2

Answer 22

draw proband’s parents- diagram slide 25

Question 23

remaining steps

Answer 23

Step 3 - add proband’s siblings
Step 4 – add data or leave room for siblings’ spouses and children
Steps 5 & 6 – continue expanding to add maternal and paternal sides of proband’s family
Step 7 – shade in disease under review