Prepare for Personalized Medicine

Family Health History – An important first step in risk assessment for genetic diseases and other hereditary health conditions

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/

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/

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/

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/

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/

Family history is a risk factor for diseases throughout all stages of

life

infants childre

nadolescents adult

solder adults

birth defectsblood

disorders

Alzheimer’s disease

osteoporosis

cancerheart disease

diabetesdepression

asthmaautism

Betty’s Story in 2017• Betty completes the Surgeon

General’s 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

Betty’s 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

Betty’s 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

Personalized Health Care: Could the Dream Become a

Nightmare?

Betty’s Story Gone Wrong• The Surgeon General’s 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.

Betty’s 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.

• Betty’s hypertension is treated with a drug that causes a hypersensitivity reaction, so she stops treatment.

Betty’s 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.

Betty’s Story Gone Wrong• The absence of her genome

sequence information prevents optimal choice of therapy.

• Betty dies in the ER.

Executive Summary

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

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

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