Heirlooms, Hope Chests and Genes...What did you inherit?


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Kristen Rasmussen, MS CGC

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Heirlooms, Hope Chests and Genes...What did you inherit?

  1. 1. Heirlooms, Hope Chests,and Genes…What did you inherit?Kristen Rasmussen, MS CGC
  2. 2. Your family history The cheapest genetic test that exists
  3. 3. What to ask about your familyhistory? 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. 4. What might you find? Cancer Heart disease Diabetes Alzheimer’s disease Lung disease (COPD, emphysema)
  5. 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. 6. Genetic or and Environmental Diabetes Hypertension Coronary artery disease OsteoporosisHuntington scurvy Most cancers AAT deficiency alcoholism Genetic Environmental galactosemia Cleft lip/palate Fetal alcohol syndrome Spina bifida thalidomideDown syndrome Heart defectsCystic Fibrosis Clubfoot
  7. 7. Most complex diseases havemultiple causes Some genetic (the ice cubes) Some environmental (the water)
  8. 8. Some conditions are moreSTRONGLY 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
  9. 9. Quick genetics lesson!
  10. 10. Chromosome pairs
  11. 11. 1st 2nd 3rd degree degree degree relatives relatives relatives Great Grandparents Grandparents Great Aunts and Uncles Parents Aunts 1st cousins UnclesYou Nieces Great Nieces Siblings Nephews and Nephews Great Children Grandchildren Grandchildren
  12. 12. What if your family historyreveals 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. 13. Breast cancer RiskAverage woman 1 in 12First degree relative 1 in 8diagnosed >55First degree relative 1 in 6diagnosed <55First degree relative 1 in 3diagnosed <45First degree relative with 1 in 2bilateral breast cancerHarper, Peter S. Practical Genetic Counselling, Fifth Edition. Reededucational and professional publishing 1998.
  14. 14. Hereditary Breast and OvarianCancer 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
  15. 15. 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
  16. 16. Colon cancer RiskAverage individual 1 in 50One first degree relative 1 in 17One first degree and one 1 in 12second degree relativeOne first degree relative <45 1 in 10Two first degree relatives 1 in 6Houlston R.S. et al. (1990) Screening and genetic counselling forrelatives of patients with colorectal cancer in a family cancer clinic.Br.Med. J. 301. 366-368.
  17. 17. 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
  18. 18. 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!
  19. 19. What if your family historyreveals 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
  20. 20. Death due to Woman age 35- Man age 35-55Heart attack 55No close family 1 in 90 1 in 60memberMale 1st degree 1 in 36 1 in 12relativeFemale 1st degree 1 in 12 1 in 10relativeHarper, Peter S. Practical Genetic Counselling, Fifth Edition. Reed educationaland professional publishing 1998.
  21. 21. Cardiomyopathies Usually genetic; 55-70% have 20-50% genetic; genetic identifiable mutations testing not as good Dilated Hypertrophic
  22. 22. Familial Thoracic Aortic AneurysmDissections (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
  23. 23. 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 patientswith familial hypercholesterolemia” by Dr Leiv Ose
  24. 24. 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 doesnt improve with an inhaler. Palpitations or an abnormal heart rhythm at a young age. Fainting, black-outs, or seizures that couldnt be treated with typical seizure medications. More than one relative with the same type of heart disease.
  25. 25. 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
  26. 26. What if your family historyreveals 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/
  27. 27. Diabetes Type I Type IIGeneral Population 1 in 300 1 in 100 to 1 in 12With affected 1 in 14 1 in 10silbingWith affected 1 in 25 1 in 10parentWith two affected 1 in 2parents
  28. 28. MODY (Maturity Onset Diabetesof 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
  29. 29. 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/
  30. 30. What if your family historyreveals Alzheimer’s disease?Alzheimer’s disease Lifetime riskGeneral 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
  31. 31. ApoE and the link to Alzheimer’sdisease 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
  32. 32. Individuals with AD and Normal All Individuals PositiveAPOE Controls with AD FamilyGenotype (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]
  33. 33. 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)
  34. 34. 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
  35. 35. What if your family historyreveals 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
  36. 36. 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
  37. 37. 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
  38. 38. 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
  39. 39. How to record your own familyhistory 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
  40. 40. How can I get records on adeceased 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
  41. 41. 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
  42. 42. November is family health historymonth!
  43. 43. Questions?