3. What to ask about your family
history?
How old now or when
died?
What diagnosis (this can
be tricky!)
What age when
diagnosed?
With cancer – where did
the cancer START? Did
they get cancer more
than once?
4. What might you find?
Cancer
Heart disease
Diabetes
Alzheimer’s disease
Lung disease (COPD, emphysema)
5. What can you do about it?
Knowing your family history can help you know what you
might be at risk for!
Help guide screening
Help instigate change
Ultimate goal to prevent history “repeating itself”!
6. Genetic or and Environmental
Diabetes
Hypertension
Coronary artery disease
Osteoporosis
Huntington scurvy
Most cancers
AAT deficiency alcoholism
Genetic Environmental
galactosemia Cleft lip/palate Fetal alcohol
syndrome
Spina bifida thalidomide
Down syndrome
Heart defects
Cystic Fibrosis
Clubfoot
7. Most complex diseases have
multiple causes
Some genetic
(the ice cubes)
Some environmental
(the water)
8. Some conditions are more
STRONGLY genetic
Some conditions can be caused by single genes
When this is the case, there can be up to a 50% risk to
family members
11. 1st 2nd 3rd
degree degree degree
relatives relatives relatives
Great
Grandparents
Grandparents
Great Aunts
and Uncles
Parents
Aunts
1st cousins
Uncles
You
Nieces Great Nieces
Siblings
Nephews and Nephews
Great
Children Grandchildren
Grandchildren
12. What if your family history
reveals Cancer?
1 in 3 people get cancer in their lifetime
Most cancer is not strictly inherited
2nd leading cause of death in the US
1 in 4 deaths
13.
14. Breast cancer Risk
Average woman 1 in 12
First degree relative 1 in 8
diagnosed >55
First degree relative 1 in 6
diagnosed <55
First degree relative 1 in 3
diagnosed <45
First degree relative with 1 in 2
bilateral breast cancer
Harper, Peter S. Practical Genetic Counselling, Fifth Edition. Reed
educational and professional publishing 1998.
15. Hereditary Breast and Ovarian
Cancer
Approximately 5% of all breast cancers
Up to 87% risk of breast cancer by age 70
44% risk of ovarian cancer by age 70
Red flags
Young age of diagnosis (under age 50)
Bilateral breast cancer
Breast and Ovarian in a single individual
Male breast cancer
16. What can I do differently?
Be diligent about screening
Talk to your doctor about options
GAIL model
Uses personal history, family history to calculate risk for breast
cancer
If risk is high enough, can help to determine MRI, preventative
medication eligability
Change risk factors that can be changed
Reduce alcohol consumption
Avoid hormone replacement therapy
Maintain healthy body weight
Exercise regularly
17. Colon cancer Risk
Average individual 1 in 50
One first degree relative 1 in 17
One first degree and one 1 in 12
second degree relative
One first degree relative <45 1 in 10
Two first degree relatives 1 in 6
Houlston R.S. et al. (1990) Screening and genetic counselling for
relatives of patients with colorectal cancer in a family cancer clinic.
Br.Med. J. 301. 366-368.
18. Lynch syndrome
Approximately 5% of all colon cancer diagnoses
Up to:
82% risk for colon cancer
71% risk for endometrial cancer
12% risk for ovarian cancer
13% risk for stomach cancer
Red flags
Young age of diagnoses (under age 50)
More than one individual with Lynch-related cancer
Two Lynch related cancers in same individual
19. What can I do differently?
Increase screening!
Colon cancer is one of the few cancers that can be
PREVENTED by screening
Those with a first degree relative should be getting
colonoscopies at least every 5 years (annually for those
with Lynch syndrome)
May need to start screening younger
Again, change risk factors that can be changed
Quit smoking
Reduce alcohol consumption
Lose weight
Get active!
20.
21. What if your family history
reveals Heart disease?
1 in every 4 deaths in the US is due to heart disease*
High blood pressure, high LDL cholesterol, and smoking
are the three biggest risk factors for heart disease*
½ of Americans have at least one of the above risk factors*
* CDC website http://www.cdc.gov/heartdisease/facts.htm
22. Death due to Woman age 35- Man age 35-55
Heart attack 55
No close family 1 in 90 1 in 60
member
Male 1st degree 1 in 36 1 in 12
relative
Female 1st degree 1 in 12 1 in 10
relative
Harper, Peter S. Practical Genetic Counselling, Fifth Edition. Reed educational
and professional publishing 1998.
23. Cardiomyopathies
Usually genetic; 55-70% have 20-50% genetic; genetic
identifiable mutations testing not as good
Dilated
Hypertrophic
24. Familial Thoracic Aortic Aneurysm
Dissections (TAAD)
Widening of the blood vessel leading away from the heart
(the aorta)
If ruptures, can cause sudden death
Associated with some genetic syndromes such as Marfan
syndrome
Can also be isolated though
Genetic testing available, but many
families have an undetectable mutation
25. Familial Hypercholesterolemia
Very high LDL (bad) cholesterol levels, from birth
1 in 500 people have it
1 in 1,000,000 have a severe form (double dose,
inherited from both parents)
* Figure from “Familial Hypercholesterolemia, An educational booklet for patients
with familial hypercholesterolemia” by Dr Leiv Ose
26. Heart history red flags
Sudden cardiac death, unexplained death at a young
age, or death by an unexplained accident or drowning.
Heart attack prior to age 50.
Heart failure at a young age (under 50). Signs of heart
failure include shortness of breath, fatigue, weakness,
difficulty with exercise and "asthma" that doesn't
improve with an inhaler.
Palpitations or an abnormal heart rhythm at a young
age.
Fainting, black-outs, or seizures that couldn't be treated
with typical seizure medications.
More than one relative with the same type of heart
disease.
27. What can I do differently?
Talk with your doctor about screening and preventative
options (differs depending upon the form of heart disease in
your family)
Periodic echocardiograms for those with a family history of
cardiomyopathy or Familial Thoracic Aortic Aneurysm
Dissections (TAAD)
Medications/implantable devices for those found to have early
stages of cardiomyopathy/TAAD
Early cholesterol screening (in early childhood) for families with
familial hypercholesterolemia.
Medications for those with elevated cholesterol levels
Change environmental factors that can be changed (again,
differs depending upon form of heart disease)
Manage cholesterol, blood pressure, diet, exercise
28. What if your family history
reveals Diabetes?
1 in 12 Americans have diabetes*
1 in 4 over the age of 65*
If current trends continue, 1 in 3 by 2050*
Vast majority (95%) are type II diabetes
Age, obesity, family history, a history of gestational
diabetes, inactivity, and race/ethnicity are major risk
factors
*CDC website http://www.cdc.gov/features/diabetesfactsheet/
29. Diabetes Type I Type II
General Population 1 in 300 1 in 100 to 1 in 12
With affected 1 in 14 1 in 10
silbing
With affected 1 in 25 1 in 10
parent
With two affected 1 in 2
parents
30. MODY (Maturity Onset Diabetes
of the Young)
1-5% of the cases of diabetes in the US
Caused by a single gene alteration in a gene that affects
the pancreas’ ability to produce insulin
Affected individuals often thin, with no risk factors for
diabetes
Can present in childhood, but may remain undetected
until adulthood
Often can be managed with medications, rather than
insulin
If untreated, can cause damage to eyes, kidneys,
nerves, blood vessels
31. What can I do differently?
Talk to your doctor
More frequent/earlier screening
Change risk factors that can be changed
Exercise /diet
Get blood pressure/cholesterol under control
Weight loss
Losing 5-7% of body weight and getting 150 minutes of
moderate exercise/week can reduce risk of diabetes by 60% in
high risk individuals*
* CDC website http://www.cdc.gov/features/diabetesfactsheet/
32. What if your family history
reveals Alzheimer’s disease?
Alzheimer’s disease Lifetime risk
General population 10.5%
Affected first degree relative 20-25%
Additional affected relatives probably increases this risk
One study showed that for people with an affected parent
and sibling (prior to age 70), the risk to develop AD was 35-
45%
If both parents affected, also likely increased risk
33. ApoE and the link to Alzheimer’s
disease
Apolipoprotein E is a protein that is important in carrying
cholesterol and fat in the bloodstream
Several varieties of this gene.
ApoE2
ApoE3 (most common)
ApoE4
The ApoE4 version of the gene has been linked to an
increased risk of Alzheimer’s disease
Women with e4/e4 genotype have a 45% risk of developing
AD by the age of 73
Men with e4/e4 have a 25% risk
ApoE2 may have a protective effect
34. Individuals
with AD and
Normal All Individuals Positive
APOE
Controls with AD Family
Genotype
(n=304) (n=233) History of
Dementia 1
(n=85)
e2/e2 1.3% 0% 0%
e2/e3 12.5% 3.4% 3.5%
e2/e4 4.9% 4.3% 8.2%
e3/e3 59.9% 38.2% 23.5%
e3/e4 20.7% 41.2% 45.9%
e4/e4 0.7% 12.9% 18.8%
Modified from Jarvik et al [1996]
35. What can you do differently?
ApoE is NOT typically recommended as a predictive test
Even those with e4/e4 have a greater chance of NOT
developing Alzheimer disease
No effective prevention
If concerned about risk, could consider a baseline
neuropsych evaluation
Provides a baseline study to compare to in the future,
should concerns arise
No preventative medications, but medications approved
to treat early stages of AD
Clinical trials (www.clinicaltrials.gov)
36. Early onset Alzheimer’s disease
Under age 60 (though not a strict cut off)
Accounts for less than 5% of people with Alzheimer’s
disease
Strongly genetic PSEN1 (30-70%)
PSEN2 (less than 5%)
APP (10-15%)
Other genes, currently
unknown
37. What if your family history
reveals Lung disease
Rates in women have increased over the past 20 years
Smoking increases risk of Chronic Obstructive Pulmonary
Disease (COPD) by 12-13 times
75% of COPD attributed to smoking
38. Alpha 1 antitrypsin deficiency
1 in 5000 individuals
Lung disease after age 20
Smoking significantly increases the risk for lung disease and the age of
onset
Liver disease from infancy to over age 50
Extremely common to be a carrier (1 in 15 – 1 in 20)
Very common among Scandinavians
Carriers have a slight increase in risk for lung/liver disease
39. Alpha-1-antitrypsin Red flags
Early onset of emphysema (age 45 years or less)
COPD – emphysema or chronic bronchitis
Family history of emphysema/COPD, liver disease
Asthma with minimal response to medication,
inhalers
Liver disease with unknown cause
http://www.alpha1health.com/patients-and-
families/testing-for-alpha-1/alphatest-kit.html
40. What can you do differently?
Avoid environmental exposures!
Smoking / 2nd hand smoke
Dust/fumes/occupational exposures (wear a mask)
Avoid other risk factors for liver disease for those with
Alpha-1-antitrypsin deficiency
Talk with your doctor
Screening available, recommended for those who smoke
41. How to record your own family
history
Ask questions!
Ask not just “who”, but also how old?
Ask about illnesses, and what age they were
when diagnosed
For cancers, ask where did the cancer
START?
Write down the answers
Update regularly
Share your project with your family – they
will be more likely to help and become
interested!
https://familyhistory.hhs.gov/fhh-
web/home.action
42. How can I get records on a
deceased family member?
Find out where they were seen for
their care
Next of Kin has right to sign for
medical records to be released.
Spouse
Children / Parents
Siblings / Grandchildren
Uncles, Aunts / Neices, Nephews
/ Great Grandchildren
Sign a release of Information form
Free if records released to a
medical provider
Can be cost if released directly to
you
43. DNA banking
A way to save blood/DNA for the future
Costs around $100 (not covered by insurance)
Available at a number of private laboratories