Prepare for Personalized Medicine

1
Prepare for Personalized Medicine
Family Health History An important first step
in risk assessment for genetic diseases and other
hereditary health conditions
2
Genetic Family History
Health care professionals have known for a long
time that common diseases (such as heart disease,
cancer, and diabetes), and even rare diseases
(like hemophilia, cystic fibrosis, and sickle
cell anemia) can run in families. If one
generation of a family has high blood pressure,
it is not unusual for the next generation to have
similarly high blood pressure. Tracing the
illnesses suffered by parents, grandparents, and
other blood relatives can help predict the
disorders to which your patient may be at risk
and take action to keep your patient and family
healthy. http//www.hhs.gov/familyhistory/
3
Genetic Family History My Family Health
Portrait

• The family tree has become the most important
  genetic test of all
• To help focus attention on the importance of
  family health history, U.S. Surgeon General in
  cooperation with other agencies within the U.S.
  Department of Health and Human Services (HHS) has
  launched a national public health campaign,
  called the U.S. Surgeon General's Family History
  Initiative, to encourage all American families to
  learn more about their family health history.
  http//www.hhs.gov/familyhistory/

4
My Family Health Portrait

• Americans know that family history is important
  to health. A recent survey found that 96 percent
  of Americans believe that knowing their family
  history is important. Yet, the same survey found
  that only one-third of Americans have ever tried
  to gather and write down their family's health
  history. http//www.hhs.gov/familyhistory/

5
My Family Health Portrait

• Because family health history is such a powerful
  screening tool, the Surgeon General has created a
  new computerized tool to help make it fun and
  easy for anyone to create a sophisticated
  portrait of their family's health.
  http//www.hhs.gov/familyhistory/

6
National Family History Day

• Thanksgiving is an annual National Family History
  Day. Thanksgiving is the traditional start of the
  holiday season for most Americans.
• Whenever families gather, the Surgeon General
  encourages them to talk about, and to write down,
  the health problems that seem to run in their
  family. Learning about their family's health
  history may help ensure a longer future together.
• http//www.hhs.gov/familyhistory/

7
Family history is a risk factor for diseases
throughout all stages of life
diabetes depression
Alzheimers disease osteoporosis
birth defects blood disorders
infants
adolescents
older adults
children
adults
cancer heart disease
asthma autism
8
(No Transcript)
9
(No Transcript)
10
(No Transcript)
11
(No Transcript)
12
(No Transcript)
13
(No Transcript)
14
(No Transcript)
15
(No Transcript)
16
(No Transcript)
17
Bettys Story in 2017

• Betty completes the Surgeon Generals family
  history tool at age 18, learns of uncles with
  early heart disease
• She consults her M.D., who suggests complete
  genome sequencing for 1000
• She inquires about the risk of genetic
  discrimination, but federal legislation has
  outlawed this

18
Bettys Story Continues

• She is found to have three gene variants that
  well validated studies have conclusively shown
  increase risk of early heart attack 5-fold
• She and her M.D. design a program of prevention
  based on diet, exercise, and medication precisely
  targeted to her genetic situation

19
Bettys Story Continues

• Betty does well until age 75
• She develops left arm pain that she assumes is
  due to gardening, but her M.D. knows her higher
  risk and diagnoses an acute MI
• Referring to her genome sequence, the drugs that
  will work best to treat her are chosen
• She survives and is alive and well in the 22nd
  century

20
Personalized Health Care Could the Dream Become
a Nightmare?

21
Bettys Story Gone Wrong

• The Surgeon Generals Family History Initiative
  never really takes off and her M.D. is too busy
  to ask about family history, so Betty never
  learns about her family history.
• Betty is offered genome sequencing, but after
  seeing her brother lose his health insurance from
  this information, she declines.

22
Bettys Story Gone Wrong

• Betty eats an unhealthy diet, gains weight, and
  develops hypertension.
• While tests to predict which drug would be most
  effective for Betty have been proposed, they have
  never been validated, and are not reimbursed.
• Bettys hypertension is treated with a drug that
  causes a hypersensitivity reaction, so she stops
  treatment.

23
Bettys Story Gone Wrong

• After 10 years of uncontrolled hypertension,
  Betty develops left arm pain at age 45.
• Her M.D., unaware of her high risk, assumes this
  is musculoskeletal and prescribes rest.
• Betty returns to the ER the next day in
  cardiogenic shock.

24
Bettys Story Gone Wrong

• The absence of her genome sequence information
  prevents optimal choice of therapy.
• Betty dies in the ER.

25
Executive Summary

• Will all this genomic Health Care stuff really
  help lead to patient-centered and truly
  personalized Health Care?

26
Executive Summary

• Our age may be known to history as the age of
  genetic medicine, a time when many of the most
  feared illnesses were overcome.
•      - President Bush
  April 10, 2002

27
Executive Summary

• It is now conceivable that our children's
  children will know the term cancer only as a
  constellation of stars.
• - President Clinton
• June 26, 2000