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Genetic Alliance. A Guide to Genetics and Health. Washington (DC): Genetic Alliance; 2006.

Cover of A Guide to Genetics and Health

A Guide to Genetics and Health.

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Diseases that run in the family

In the rest of this booklet, we give you examples of some common diseases that affect our communities and families. For each disease, we include information under the following headings:

• What is the disease?

• Who is at risk?

• Hints for health

Heart disease

Heart disease is the main cause of death in America in both men and women. There are many types of heart disease. Two of the most common types are coronary artery disease (CAD) and high blood pressure (hypertension).

What is Coronary Artery Disease (CAD)?

  • In CAD the arteries that supply blood to the heart muscle can get hard and narrow. The arteries narrow, or get smaller, because plaque and cholesterol build up on the inner walls.
  • CAD gets worse over time. As the arteries get smaller, less blood gets to the heart, and less oxygen gets to the heart muscle. Very low levels of oxygen can cause chest pain or a heart attack.
  • CAD is the most common cause of heart attacks among Americans.

Who is at risk?

  • About 13 million Americans have CAD.
  • Everyone has some risk for developing heart disease.
  • CAD is caused by a combination of genes, lifestyle choices, and environment.
  • For some people, a healthier diet and more activity can change cholesterol level and lower risk.
  • Since your genes cannot be changed, some people need medicine to lower their risk of having a heart attack.

Hints for health

  • Eat healthy meals.
  • Get active and exercise regularly. Obesity increases your risk.
  • Take your prescribed medications to control high cholesterol, high blood pressure, and diabetes.
  • If you smoke, talk with your healthcare provider about quitting.

For more information, visit www.nhlbi.nih.gov/health/dci and click on “Coronary Artery Disease” or call the American Heart Association at 800-AHA-USA-1 (800-242-8721).

What is High Blood Pressure?

  • Blood pressure is a measure of how hard your heart is working to push the blood through your arteries, the blood vessels leaving your heart.
  • There are two numbers in a blood pressure reading. A normal reading is about 120/80 (read as “120 over 80”). The first number is the force your heart uses to pump the blood. The second number is the pressure between heartbeats.
  • High blood pressure means that your heart is working too hard. Over time, high blood pressure can cause kidney failure, heart attacks, strokes, and other health problems.

Who is at risk?

  • About one in three adults has high blood pressure. Many do not even know it because there are no clear symptoms.
  • A family history of high blood pressure increases your risk for getting it at a younger age.
  • Risk increases with age, being overweight, or having a family history of hypertension.

Hints for health

  • Eat less salt.
  • Maintain a healthy weight.
  • Manage your stress.
  • Get active and exercise regularly.
  • Limit the alcohol you drink.
  • Get screening regularly.

For more information, visit www.nhlbi.nih.gov/health/dci and click on “High Blood Pressure” or call the American Heart Association at 800-AHA-USA-1 (800-242-8721).

Heart disease symptoms may not appear until the damage is already done. Talk to your family about heart disease today.


What is Asthma?

  • Asthma is a lung disease that causes repeated episodes of breathlessness, wheezing, coughing, and chest tightness. The episodes can range from mild to life threatening.
  • Asthma episodes are caused by triggers. These are things like dust mites, animal dander, mold, pollen, cold air, exercise, stress, viral colds, allergies, tobacco smoke, and air pollutants.
  • Some people have genes that control their response to these asthma triggers.

Who is at risk?

  • Asthma affects about one in 10 children and one in 12 adults.
  • Asthma is the main reason children end up in the emergency room and miss days of school.
  • If you have parents, siblings, or children with asthma or allergies, you are more likely to get it.

Hints for health

  • Avoid exposure to triggers.
  • Use medication correctly.

For more information, visit www.nhlbi.nih.gov/health/dci and click on “Asthma” or call the American Lung Association at 800-548-8252.

Diabetes (sugar disease)

Diabetes is a serious, chronic disease in which blood sugar levels are above normal. Many people learn about their diabetes after problems develop. According to the American Diabetes Association, one out of three people who have type 2 diabetes do not know that they have the disease.

Symptoms occur when the body fails to change sugar and other food into energy. This happens when the body cannot make or use a hormone called insulin. Serious problems from diabetes can include blindness, kidney failure, and death. Diabetes can be detected early and treatment can prevent or delay these serious health problems. Both genetic and environmental factors such as diet and exercise plays an important role in getting the disease.

What is Type 1 Diabetes?

  • Type 1 diabetes usually develops in young children or young adults.
  • People with type 1 diabetes stop making their own insulin.

What is Type 2 Diabetes?

• Type 2 diabetes usually develops in people over 30 years of age. In recent years, more young people are getting it due to poor diet.

• Scientists are learning more about the specific genes involved in this type of diabetes.

Who is at risk?

  • Diabetes affects about one in 13 people in the United States.
  • Five to 10 percent of Americans with diabetes have type 1 diabetes.
  • Children or siblings of people with diabetes are more likely to get diabetes.
  • Obese people are more likely to get type 2 diabetes.
  • Women who had a baby that weighed more than 9 pounds or who had gestational diabetes while pregnant are at risk.

Hints for health

  • Eat more fruits and vegetables, less sugar and fat.
  • Get active and exercise regularly.
  • Lose weight if necessary.

For more information, visit www.ndep.nih.gov or call 800-860-8747.


There are many types of cancer. Cancer is caused by the growth and spread of abnormal cells. Though your risk of getting cancer increases as you get older, genetic and environmental factors also cause people to be at a higher risk for certain types of cancer. Some of the most common cancers are breast cancer, lung cancer, and prostate cancer.

What is Breast Cancer?

  • Breast cancer is a type of cancer that forms in the tissues of the breast, usually the ducts.
  • Breast cancer is one of the most common cancers among women.
  • Although it is rare, men can also get breast cancer.
  • Most breast cancer can be treated if found early.

Who is at risk?

  • One out of eight American women will develop breast cancer in her lifetime.
  • Among Hispanic/Latina women, breast cancer is the most common type of cancer.
  • Breast cancer risk is higher if a women has close blood relatives who have had this disease. Both your mother’s and father’s family history of breast cancer is important.

Hints for health

  • Women should do monthly breast self-exams.
  • After age 40, women should get annual mammograms.
  • Ask about genetic testing for high-risk families.
  • Eat a healthy, balanced diet.
  • Get active and exercise regularly.
  • Limit the alcohol you drink.

For more information, visit www.cancer.gov/cancertopics and click on “Breast Cancer” or call 800-4-CANCER (800-422-6237).

What is Lung Cancer?

  • Lung cancer is the uncontrolled growth of abnormal cells in one or both of the lungs.

Who is at risk?

  • Lung cancer is the leading cause of cancer death for both men and women.
  • About 160,000 people died in the United States from lung cancer in 2007.
  • Nearly 87 percent of lung cancer cases in the United States are smoking-related.

Hints for health

  • Do not smoke.
  • Avoid secondhand smoke.
  • Find out about testing for radon and asbestos in your home and at work.

For more information, visit www.cancer.gov/cancertopics and click on “Lung Cancer” or call 800-4-CANCER (800-422-6237).

What is Prostate Cancer?

  • Prostate cancer develops in the male reproductive system. The prostate is a small gland near the bladder.
  • Scientists do not yet know what causes prostate cancer.
  • Doctors have a test to find out whether a man might have prostate cancer.

Who is at risk?

  • Men of all ages can develop prostate cancer. However, more than eight out of 10 cases occur in men over the age of 65.
  • Prostate cancer is the most common type of cancer diagnosed in Hispanic/Latino and African American men.
  • Having a father or brother with prostate cancer more than doubles a man’s risk for getting prostate cancer. The risk goes up with the number of relatives who have it, especially if the relatives were less than 50 years old when they got it.

Hints for health

  • Follow a healthy diet.
  • Exercise regularly.
  • After age 50, have your prostate checked.

For more information, visit www.cancer.gov/cancertopics and click on “Prostate Cancer” or call 800-4-CANCER (800-422-6237).

Single gene disorders

What are Single Gene Disorders?

  • Earlier in this booklet, you read about conditions caused by mutations in a single gene. These conditions are called single gene disorders.
  • There are more than 6,000 single gene disorders. Combined, they occur in about 1 in 300 births.
  • The symptoms of single gene disorders vary widely, but many of them run in families.
  • Collecting your family health history for these conditions is important for diagnosis and management of the condition and for making reproductive choices.

Who is at risk?

  • Every person is born with mutations. Most of these mutations will not cause disease on their own, but it is important to identify any that do.
  • Depending on which gene is affected, single gene disorders can be passed down even when the mother and father do not show any symptoms.
  • Some single gene disorders are identified during a pregnancy or soon after a child is born. Others will not be diagnosed until adulthood.
  • The most harmful mutations may lead to a miscarriage or stillbirth. If you have a family history of miscarriages, this may be related to a genetic mutation.

Hints for health:

  • If you have a family history of a single gene disorder, discuss it with your healthcare provider. Your provider may refer you to a specialist.
  • Know which newborn screening tests are performed in your state.
  • For thousands of conditions, advocacy organizations provide support services, information, and ways to get involved in the discovery of treatment options.

Visit Disease InfoSearch at www.geneticalliance.org to find out more.

For more information on single gene disorders, contact the Genetic and Rare Diseases (GARD) Information Center at gardinfo@nih.gov or 888-205-2311.

Copyright Notice

All Genetic Alliance content, except where otherwise noted, is licensed under a Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Bookshelf ID: NBK115605


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