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Kristen Rasmussen, MS CGC
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Heirlooms, Hope Chests, and Genes… What did you inherit?
Kristen Rasmussen, MS CGC
Your family history
The cheapest genetic test that exists
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?
What might you find?
Cancer
Heart disease
Diabetes
Alzheimer’s disease
Lung disease (COPD, emphysema)
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”!
Genetic or and Environmental
Genetic Environmental
Down syndrome
Cystic Fibrosis
thalidomide
Cleft lip/palate
Spina bifida
Heart defects
Clubfoot
Diabetes
Hypertension
Coronary artery disease
Osteoporosis
Most cancers AAT deficiency
scurvy Huntington
alcoholism
Fetal alcohol
syndrome galactosemia
Most complex diseases have multiple causes
Some genetic
(the ice cubes)
Some environmental
(the water)
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
Quick genetics lesson!
Chromosome pairs
3rd degree
relatives
2nd degree
relatives
1st degree
relatives
You
Parents
Grandparents
Great Grandparents
Great Aunts and Uncles
Aunts
Uncles 1st cousins
Siblings Nieces
Nephews
Great Nieces and Nephews
Children Grandchildren Great
Grandchildren
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
Breast cancer Risk
Average woman 1 in 12
First degree relative diagnosed >55
1 in 8
First degree relative diagnosed <55
1 in 6
First degree relative diagnosed <45
1 in 3
First degree relative with bilateral breast cancer
1 in 2
Harper, Peter S. Practical Genetic Counselling, Fifth Edition. Reed educational and professional publishing 1998.
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
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
Colon cancer Risk
Average individual 1 in 50
One first degree relative 1 in 17
One first degree and one second degree relative
1 in 12
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.
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
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!
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
Death due to Heart attack
Woman age 35-55
Man age 35-55
No close family member
1 in 90 1 in 60
Male 1st degree relative
1 in 36 1 in 12
Female 1st degree relative
1 in 12 1 in 10
Harper, Peter S. Practical Genetic Counselling, Fifth Edition. Reed educational and professional publishing 1998.
Cardiomyopathies
Dilated
Hypertrophic
20-50% genetic; genetic testing not as good
Usually genetic; 55-70% have identifiable mutations
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
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
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.
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
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/
Diabetes Type I Type II
General Population 1 in 300 1 in 100 to 1 in 12
With affected silbing
1 in 14 1 in 10
With affected parent
1 in 25 1 in 10
With two affected parents
1 in 2
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
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/
What if your family history reveals Alzheimer’s disease?
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
Alzheimer’s disease Lifetime risk
General population 10.5%
Affected first degree relative 20-25%
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
APOE Genotype
Normal Controls (n=304)
All Individuals with AD (n=233)
Individuals with AD and Positive Family 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]
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)
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, currentlyunknown
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
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
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
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
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
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
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
November is family health history month!
Questions?