Family History

Family History

The Importance of Knowing Your Family History FAQ

What is family history?

Family health history refers to health information about you and your close relatives. Family health history is one of the most important risk factors for health problems like heart disease, stroke, diabetes, and cancer. A risk factor is anything that increases your chance of getting a disease.

Why is knowing my family history important?

Family members share their genes, as well as their environment, lifestyles, and habits. A family health history helps identify people at increased risk for disease because it reflects both a person’s genes and other shared risk factors.

How can knowing my family health history help lower my risk of disease?

Having a family member with a disease suggests that you may have a higher chance of developing that disease than someone without a similar family history. It does not mean that you will definitely develop the disease. Genes are only one of many factors that contribute to disease. Other factors to consider include:

  • Lifestyle
  • Environment
  • Diet
  • Physical activity

How can I learn about my family health history?

The best way to learn about your family history is to ask questions, talk at family gatherings, draw a family tree and record health information. If possible, look at death certificates and family medical records.

To learn more about how to collect a family health history download the following resources:

What should I do with the information I collect?

First, share this information with your doctor. Second, share this information with your family (i.e. parents, grandparents, aunts, uncles, siblings, children) so that they will have a family health history record. Third, remember to keep this information current and provide your family with an updated copy.

What will my doctor do with the information?

Your doctor will assess your risk of disease based on your family history and other risk factors. Your doctor may also recommend things you can do to help prevent disease, such as exercising more, changing your diet, or using screening tests to detect disease early. People who have a family history of a chronic disease may benefit the most from screening tests that look for risk factors or early signs of disease. It is important to follow your doctor's recommendations for screening tests.

Because both of my parents had heart disease, I know I have “bad” genes. Is there anything I can do to protect myself?

First of all, there are no “good” or “bad” genes. Most human diseases, especially common diseases such as heart disease, result from the interaction of genes with environmental and behavioral risk factors that can be changed. The best disease prevention strategy for anyone, especially for someone with a family history, includes reducing risky behaviors (such as smoking) and increasing healthy behaviors such as regular exercise.

My Father had diabetes. Does this mean I will get diabetes, too?

You can’t change your genes, but you can change behaviors that affect your health, such as smoking, inactivity and poor eating habits. People with family history of chronic disease may have the most to gain from making lifestyles changes. In many cases, making these changes can reduce your risk of disease even if the disease runs in your family.

How do I learn about my family history if I’m adopted?

Learning about your family health history may be difficult if you are adopted. Some adoption agencies collect medical information on birth relatives. This is becoming more common but is not routine. Laws concerning collection of information vary by state.

Contact the health and social service agency in your state for information about how to access medical and legal records on your biologic family members. The National Adoption Clearinghouse offers information on adoption and could be helpful if you decide to search for your birth parents.

To learn more, visit www.childwelfare.gov.

If I don’t have a family history of disease, does that mean I am not at risk?

Even if you don’t have a history of a particular health problem in your family, you could still be as risk. This is because you may be unaware of disease in some family members, or you could have family members who died young, before they had a chance to develop chronic conditions. Your risk of developing a chronic disease is also influenced by many other factors, including your habits and personal health history.

If you have a strong family history of a genetic condition, schedule a visit at Cleveland Clinic's Center for Personalized Genetic Healthcare locally at 216.636.1768 or toll-free 800.998.4785.

FAQs

FAQs

Why did my doctor refer me to genetics?

Geneticists specialize in determining the underlying reason for why a person has a rare condition or has an unusual presentation of a common condition. There are subspecialties within genetics. You may have been referred to genetics at Cleveland Clinic because you or a family member was diagnosed with cancer at a young age or because you have features of a genetic or inherited condition.

Your child may have been referred to genetics because of developmental delay, autism, a birth defect, a known genetic syndrome or a variety of other reasons.

Pregnant women and couples considering starting a family may be referred to genetics to find out their chances of having a healthy baby and also to discuss the testing that may be available to address any increased risk they may have for having a baby with a genetic or developmental condition.

Who are genetic counselors?

Genetic counselors are health professionals with graduate degrees and experience in the areas of medical genetics and counseling. Genetic counselors work as members of a health care team, providing information and support to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.

What is involved in genetic counseling?

A review of your family history and construction of a family tree, or family health history diagram, a review of your personal medical history, a health risk assessment based on both personal and family health histories, education about specific inherited conditions, associated health risks, inheritance patterns and recurrence risks, a discussion of health risks for family members , determination of whether genetic testing is indicated and appropriate for you and/or your family members, assistance with genetic testing for at-risk family members if desired, health planning for the future, detailing available medical options for clinical screening and/or prevention to review with your primary care provider or specialist.

How do I cancel or reschedule my appointment?

Please call our Patient Service Representative at 216.636.1768 to cancel or reschedule an appointment. We ask that you provide us with as much advance notice as possible when canceling or rescheduling, as this enables us to move patients off the waiting list so that they may be seen sooner.

Is there anything I can/should do before my appointment?

Generally, it is helpful to have a record of any surgeries or medical procedures that have taken place. Also, please make arrangements for any physicians you've seen outside of Cleveland Clinic to give you copies of medical records (including test results, letters, etc.). It may be necessary to sign a medical release form. If you or your child has seen many doctors, a list of their names would be beneficial.

Also, it may be helpful for you to talk with your relatives about individuals in your family who have had a genetic or inherited condition. You should ask questions similar to the ones listed below:

  • Who in the family has been diagnosed with genetic condition, and how are they related to you?
  • What type of genetic disorder did each affected relative have (e.g. Huntington disease, Cancer, Autism, Tay-Sachs)?
  • Did anyone in the family have trouble conceiving or have multiple miscarriages?
  • At what age was each individual diagnosed with their genetic condition?
    • If a precise age is not known, it can be helpful to determine the approximate decade in which they were diagnosed (e.g. diagnosed in their 40s, or 70s).
  • Has anyone in the family had genetic testing?

How far back of my family history should I know and bring to the appointment?

Typically, we ask that you obtain medical information as far back as your grandparents and even their siblings (great aunt, great uncle, etc.) on both sides of your family, if possible. This will help better to determine the most appropriate testing options for you.

Who should I bring with me to the appointment?

If you have a spouse, family member or close friend that you would like to have with you for support, you are more than welcome to have them with you doing your evaluation. Also, if several members of your family are affected with, or are at risk for, the same condition, then it might be helpful for those individuals to accompany you to your appointment as well. However, if a family member would like to be fully evaluated, he/she will need to schedule a separate appointment.

Do I need a referral?

Our office does not require a referral in order to schedule an appointment for genetic services. However, depending on the reason for your appointment a referral may be necessary.

Also, some insurance companies require a referral before providing coverage for genetic services. Contact your insurance company to find out if a referral is necessary for coverage.

Who will I see when I come in for my appointment?

At the time of the appointment, you can ask the scheduler which genetic expert you are going to meet with during your visit. Genetic counselors will be involved in most patients' appointments and provide these services in direct partnership with your primary or managing physician, or work with several different geneticists, each of whom has various overlapping areas of expertise. Pediatric genetics patients are seen by Dr. Marvin Natowicz or Dr. Rocio Moran. Cancer genetics patients are seen by Dr. Charis Eng. Adult genetics patients may be seen by any of our geneticists, depending on the reason for the appointment. Prenatal and preconception genetics patients may be seen by Drs. Moran or Zurcher on Cleveland Clinic's main campus, or in conjunction with one of the high-risk obstetric specialists at one of the Clinic's satellite centers.

I don't live in Ohio, can you help me coordinate insurance and appointments?

Cleveland Clinic offers special services to patients traveling from out-of-state through the Medical Concierge. The services offered include assistance with coordinating appointments, helping with airline and hotel reservations (and providing discounts when available), and arranging ground transportation. The phone number is 800.223.2273 ex. 55580 and email address is Medical Concierge.

What will happen at my appointment?

Appointments vary depending on the reason for the visit. In general, you can expect to give a medical and family history, if this hasn't already been done over the phone. A physical exam may be necessary, especially for pediatric patients or others who are seen in our general genetics clinic. The genetic expert may talk with you about possible diagnoses or may be able to give you a definitive diagnosis. Genes, genetic syndromes, inheritance patterns, and available genetic testing may also be part of the discussion. Frequently, patients come away from a genetics visit with helpful explanations about their conditions or risks for having or passing on a condition, a sense that they have been listened to, and resources to help them get proper medical care and support. For specific information about different types of genetic services, visit our services page.

How many visits will I need?

The number of visits that you will need depends on the reason for your appointment. For pediatric consultations, it may take several visits to fully evaluate your child. For adults who are interested in genetic testing for inherited predisposition to certain cancers, at least two visits will be required. Adults coming in for preconception or prenatal counseling often come for one appointment, but sometimes more than one visit is necessary. For other types of adult visits, it will depend on your specific situation.

What is genetic testing?

Genetic testing is a type of laboratory test that looks for changes in a person’s genetic material (DNA, genes or chromosomes) or in the products that the genes make. Most times genetic testing is done by taking a blood sample, but sometimes other body samples (like cheek cells or skin) are needed. There are many genetic conditions for which there is no testing yet available. So, not everybody who comes to CPGH for genetic counseling will be able to have a genetic test. The physician and genetic counselor that you speak with during your appointment will explain if genetic testing is available or advised. For example, they will tell you how and where it is performed, who in the family is the best person to be tested first, and how long it will take to see the results. As a general rule, ALL genetic testing results are given in person during a follow-up genetic counseling session. Finally, because many genetic tests are expensive and not always covered by insurance, we recommend that each person check with his/her insurance company about coverage prior to having testing.

What is the difference between a genetic condition and an inherited condition?

A genetic condition is a disease or syndrome that is caused by a change in our genetic material (DNA, genes and chromosomes). An inherited disease is a type of genetic condition that involves genes which may be passed on from parent to child. Many genetic conditions are not usually inherited. For example, Down Syndrome is a genetic condition that typically is not inherited. In CPGH, we see people with genetic conditions that are not inherited, as well as those that are. It is our job to determine if and how a condition is inherited, and to help our patients understand these concepts.

Is genetic counseling covered under my insurance?

Many insurance companies will cover 96040, which is the CPT code for genetic counseling. However, we do ask that you check with your insurance company to verify that your plan does cover the cost. If your plan does not cover 96040, please contact us at 216.445.5686 and we can discuss the proper payment arrangements with you.

For more information about insurance coverage, visit our Insurance & Billing page.

Will I have genetic testing performed?

The genetic counselor you meet with will be able to determine whether you would benefit from genetic testing. In some cases, a member of your family may be the best person to get tested. In others there may not yet be an appropriate or defined genetic test.

Can I have my blood drawn that day?

If testing is pursued, yes in most cases it can be done the same day.

Are genetic services covered under my insurance?

Many insurance companies will cover genetic services. Genetic services include several different components, such as counseling and possible testing, and we ask that you check with your insurance company to verify that your plan does cover the cost.

If your plan does not cover these components, please contact us at 216.445.5686 and we can discuss the proper payment arrangements with you.

For more information about insurance coverage, visit our Insurance & Billing page.

What is your policy on confidentiality?

There are laws in place to help protect people from health and employment discrimination. All CPGH information is kept in your Cleveland Clinic chart. Records, including test results, are not given to anyone without your permission. Furthermore, none of your medical information would be given to other family members without your permission. Likewise, if you are coming in to CPGH to talk about another family member’s genetic test results, you must bring a copy of those results or have the relative call us prior to the appointment to give their consent to discuss him or her during your appointment. As required by law, we follow HIPAA regulations to keep your medical and genetics records secure.

Do you offer paternity testing?

Paternity testing compares DNA (from blood or cheek cells) from different individuals to find out if they are biologically related. The most common reason for paternity testing is to identify a child’s biological father. This testing is not performed at Cleveland Clinic, and we do not coordinate this testing. Many commercial laboratories provide accurate paternity testing. Three such labs are listed below. Cleveland Clinic is not affiliated with these laboratories and does not endorse them. They are listed only for informational purposes. For more information, contact the paternity testing labs directly.

  • GeneTree DNA Testing Center
    888.404.GENE

  • DNA Diagnostics Center
    800.613.5768

  • Beta Paternity DNA Lab
    800.798.3810

Patient Checklist

Patient Checklist

In an effort to ensure our genetic healthcare professionals provide you with a comprehensive evaluation, we ask that our patients come prepared to their appointment. Based on the reason for your visit, we may request information prior to your initial appointment. Our patient service representative will instruct you regarding what to bring to your appointment.

Information about your referring or primary physician:

  • Name
  • Address
  • Phone Number
  • Fax Number (if applicable)
  • Email (if applicable)

Information about you:

  • Be prepared to discuss your personal and family health history. Learn more about compiling a family health history.
  • Medical History
  • Surgeries/Procedures (including Operative Reports)
  • Imaging Films & Reports
  • Pathology Reports
  • Questions for your doctor - please prepare a list of specific questions that you would like to ask

Other important information to prepare for your visit:

  • You will receive an appointment schedule in the mail prior to your visit. If your visit is scheduled as a same day appointment, you will receive your written schedule when you arrive at our clinic.
  • Please report to the location indicated on your appointment schedule or by our patient service representative. Upon arrival, please show the receptionist your appointment schedule and insurance information.
  • If this is your first appointment, please plan on being at Cleveland Clinic for two hours.
  • You are encouraged to bring a family member or friend on the day of your appointment for support, though it is not absolutely necessary.
  • If you have questions or need to reschedule your appointment, please contact our office as soon as possible.
Genetic Discrimination

Genetic Discrimination

U.S. law prohibits discrimination based on genetic testing and family history

Genetic testing (i.e., identifying the risks of inheriting disease) has been widely heralded as a major breakthrough in disease prevention. Yet its adoption has been slowed by privacy issues. Polls have shown that Americans have been concerned about the possibility that employers and health insurers may use their personal genetic information to discriminate against them. Fortunately, a new federal law specifically outlaws this form of discrimination, thereby protecting patients and their families.

The age of genetic healthcare is here, and its benefits are now being realized. Genetic tests can allow for earlier detection of illnesses, often before symptoms have surfaced. A person who learns about his or her relatives' medical histories can take steps to reduce the likelihood that he or she will develop disorders that run in the family. Genetic research holds the promise of better therapies to treat diseases and improvements to disease prevention strategies.

To encourage the use of genetic services, testing, and research, the Genetic Information Nondiscrimination Act (GINA) was passed by Congress and signed into law by President Bush in May, 2008. This law makes it illegal for health insurers and employers to discriminate against a person because of his or her genetic information. For the purposes of GINA, genetic information is defined as information about:

  • A person's use of, or referral to, genetics services (including genetic counseling and testing)
  • The presence of a disease in a relative (up to and including fourth degree family members)
  • The genetic tests of a person's relative participation of an individual or family member in research involving genetics

Specifically, GINA prohibits health insurers from denying coverage or charging higher premiums to individuals based on genetic information. A health insurer cannot request or require that an individual undergo a genetic test, or make any policyholder-related decision on the basis of the test.

Employers also cannot use genetic information to make decisions about hiring or firing an individual. Genetic information cannot be used to discriminate against an employee regarding job assignments or promotion. Employers cannot request or require a genetic test, nor can they purchase the genetic information of an individual or his or her family.

GINA is officially intended to protect individuals against the potential misuse of medical information, while encouraging the use of genetic tests and family history information in health care. However, the legislation will also benefit humanity by creating an environment in which more people will participate in medical research, contributing to potential medical advances.

For more information about GINA and genetics issues, please visit:

This information is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition.

Genomic Medicine Institute/NE50
Center for Personalized Genetic Healthcare
9500 Euclid Avenue, Cleveland, OH 44195
Appointments: 216.636.1768
Hearing Impaired (TTY) Assistance: 216.444.0261
©2008 The Cleveland Clinic Foundation 8/08

Glossary

Glossary

Cancer is a malignant growth in the body. Cancer happens when some cells in the body begin to grow out-of-control. Cancer may invade (spread to) other parts of the body.

Different types of cancer include:

Adrenal Gland: The adrenal glands are small glands located above each kidney. Adrenal gland tumors are rare. Adrenal gland tumors include adrenal cortical carcinoma (cancer of the outer shell of the adrenal gland), pheochromocytoma (endocrine tumor that develops from the inner adrenal gland cells), and benign adrenal tumors. Adrenal tumors and cancers may produce high levels of hormones that can cause weight gain, early puberty, heart palpitations, sweating, nausea, and/or headaches.

Adrenal gland cancer is surgically removed and often treated with chemotherapy after surgery.

Benign adrenal tumors are usually removed, unless they are very small. They are not malignant and will not invade other tissues.

Basal Cell Carcinoma is a specific type of skin cancer. It is one of the most common types of skin cancer. It often develops in areas that are frequently exposed to sunlight, such as the face.

Basal cell carcinoma (sometimes called BCC) is surgically removed. If the basal cell carcinoma is large, a second surgery called Mohs surgery may be needed. Some patients may also undergo chemotherapy, radiation therapy, and/or Cryosurgery (cold treatment).

Benign Tumor: A benign tumor is a non-cancerous (non-malignant) growth in the body. It may grow in size, but it will not spread to other tissues in the body.

Bile duct cancer is a malignant (cancerous) growth in the bile duct. It may invade (spread to) other parts of the body. Bile ducts are small tubes that transfer bile (bodily fluid that helps digest food) from the liver, gallbladder, and pancreas to the intestines.

Bile duct cancer is treated by surgical removal and may also be treated with chemotherapy and/or radiation therapy after surgery or instead of surgery.

Bladder cancer is a malignant (cancerous) growth in the lining of the bladder (the organ that holds urine). Bladder cancer may invade (spread to) other parts of the body. Bladder cancer is treated by surgery, which may include removing the cancer through a thin tube inserted into the urethra or partial or complete removal of the bladder. If the cancer has spread to nearby organs such as the prostate, uterus, or ovaries, these may be surgically removed also.

Brain cancer is a malignant (cancerous) growth in the brain. It may invade (spread to) other parts of the body. If possible, it is removed by surgery and is usually treated with chemotherapy and radiation therapy after surgery or instead of surgery.

A benign (non-cancerous) brain tumor is not malignant. While it may grow in size and may affect brain function over time, benign brain tumors do not spread to other parts of the body. Benign brain tumors may be removed by surgery or may simply be followed by a physician.

Cervical cancer is a malignant (cancerous) growth in a woman’s cervix (the opening of the uterus). It may invade (spread to) other parts of the body. Cervical cancer only occurs in women.

Cervical cancer is diagnosed by a cervical biopsy (colposcopy) after a pap smear screening test. Not all abnormal pap smears mean that a woman has cervical cancer.

Cervical cancer can be removed by surgery if it is found in an early stage. Late-stage, or advanced, cervical cancer is usually also treated with chemotherapy and radiation therapy.

Colon/Rectal Cancer Colon Cancer is a malignant (cancerous) growth in the colon, or large intestine (the last part of the digestive system before the rectum). Rectal cancer is a malignant growth in the rectum. Colon/rectal cancer may invade (spread to) other parts of the body.

Colon/rectal cancer is treated by surgical removal of the cancer and is often also treated with chemotherapy and/or radiation therapy.

Colon Polyps: A colon polyp is a benign growth in the colon. Is is not cancerous, but some polyps may grow into a colon cancer over time. These benign polyps can actually occur anywhere in the digestive system, but are most common in the colon. To prevent a future cancer, colon polyps are almost always removed during a colonoscopy or sigmoidoscopy.

Ductal Carcinoma in Situ (DCIS) is a malignant (cancerous) growth in the milk duct in the breast and has not spread beyond the duct. It is sometimes considered a “pre-cancer” because it has not invaded the rest of the breast. If DCIS spreads to other parts of the breast or other parts of the body, it becomes an invasive breast cancer. DCIS can occur in one breast (unilateral) or both breasts (bilateral).

Esophageal Cancer is a malignant (cancerous) growth of tissue in the esophagus, the tube that connects the mouth to the stomach. It may invade (spread to) other parts of the body.

If the esophageal cancer is small, it will be surgically removed. Sometimes surgery involves removing part of the esophagus. Chemotherapy and/or radiation therapy may be given before or after surgery.

Eye cancer can develop in different parts of the eye, including the eyelid, iris (colored part of the eye), retina (back of the eye), and optic nerve. Eye cancer includes melanoma, carcinoma, lymphoma, and retinoblastoma. Eye cancer is often removed by surgery and can sometimes be treated with chemotherapy, localized radiation therapy, or Cryotherapy (cold therapy), depending on the type.

Hyperparathyroidism: The average person has 4 parathyroid glands located around the thyroid gland in the neck. The parathyroid glands produce parathyroid hormone (PTH), which helps control calcium levels in the blood.

Hyperparathyroidism is the overactivity of the parathyroid glands that results in increased produce of PTH. Symptoms of untreated hyperparathyroidism include: kidney stones, kidney failure, osteoporosis, arthritis, constipation, nausea, vomiting, fatigue, depression, memory loss and/or hallucinations or altered thinking.

Hyperparathyroidism is treated by surgical removal of the overactive parathyroid glands and with medicine.

Invasive breast cancer is a malignant (cancerous) growth in the breast. Invasive breast cancer has already invaded (spread to) different parts of the breast and may invade other parts of the body. Breast cancer can occur in one breast (unilateral) or both breasts (bilateral). Breast cancer can occur in women and men. Invasive breast cancer is different from ductal carcinoma in situ (DCIS).

Kidney Cancer is a malignant (cancerous) growth in the kidney (two organs in the abdomen that are involved in regulating bodily fluids and processing urine). Kidney cancer may invade (spread to) other parts of the body. Kidney cancer is often called Renal Cell Carcinoma (RCC). Kidney cancer can occur in one kidney (unilateral) or both kidneys (bilateral). Treatment for kidney cancer includes surgical removal of part of the kidney or the entire kidney (nephrectomy). Some people may need to go on dialysis (kidney replacement therapy) after surgery. Radiation therapy may be used to treat cancers that cannot be removed by surgery.

Benign kidney tumors and cysts are not malignant and will not spread to other parts of the body. It can sometimes be difficult to tell if a tumor is benign or malignant until after surgery. Benign kidney tumors and kidney cysts may be monitored by a physician or surgically removed. Benign kidney tumors and cysts can occur in one kidney (unilateral) or both kidneys (bilateral).

Leukemia is a malignant (cancerous) growth of the blood cells and bone marrow. There are many different types of leukemia, including:

  • Acute Lymphoblastic Leukemia (ALL)
  • Chronic Lymphoblastic Leukemia (CLL)
  • Acute Myeloid Leukemia (AML)
  • Chronic Myeloid Leukemia (CML)

Treatment depends on the type of leukemia and the age of the patient. Patients often undergo bone marrow transplantation and may also receive chemotherapy and/or antibody therapy.

Lung cancer is a malignant (cancerous) growth in the lung. It may invade (spread to) other parts of the body. Lung cancer is more common in people who have been exposed to long-term cigarette smoke or asbestos, but it can occur in anyone.

Symptoms of lung cancer include shortness of breathing, coughing, chest pain, coughing up blood, difficulty swallowing, and weight loss. Treatment for lung cancer depends on the type and level of disease, but it can include surgery, chemotherapy, and/or radiation therapy.

Lymphoma is a malignant (cancerous) growth of the body’s lymphatic system including the lymph nodes. It may invade (spread to) other parts of the body. Lymphoma includes Hodgkin Lymphoma and others types, which are grouping into the term Non-Hodgkin Lymphoma.

Melanoma is a specific type of skin cancer. Melanoma often invades (spreads to) other tissues. It often develops in areas that are frequently exposed to sunlight, such as the face.

Melanoma is removed by surgery. Sometimes lymph nodes will also be removed as part of the surgical evaluation. Sometimes a second surgery called a called Mohs surgery may be needed to remove the area of skin around the melanoma. If a patient has a malignant melanoma (melanoma that has spread to other tissues), chemotherapy, radiation and/or immunotherapy may be given.

Ovarian cancer is a malignant (cancerous) growth in one or both of the ovaries (the reproductive organs where a woman’s eggs are stored). It may invade (spread to) other parts of the body. Ovarian cancer only occurs in women.

Ovarian cancer is usually diagnosed at a late stage (advanced) after the cancer has already spread to other parts of the body. Ovarian cancer is removed by surgery (salpingo-oophorectomy or total hysterectomy) and then may be treated with chemotherapy and/or radiation therapy afterwards.

Prostate cancer is a malignant (cancerous) growth in the prostate (the reproductive organ in men located behind the testicles). It may invade (spread to) other parts of the body. Prostate cancer only occurs in men and is very common in men over the age of 50.

Prostate cancer can be removed by surgery and/or treated with radiation therapy, hormone therapy, or chemotherapy.

Prostate cancer is different from Benign Prostate Hypertrophy (prostate enlargement).

Pancreatic cancer is a malignant (cancerous) growth in the pancreas. It may invade (spread to) other parts of the body. Pancreatic cancer is difficult to detect at an early stage. It is usually diagnosed at a late stage (advanced) after the cancer has already spread to other parts of the body. Pancreatic cancer is treated by surgical removal, which may include surgical removal of parts of other nearby organs, such as the stomach, intestines, spleen and gallbladder if the cancer has spread. Pancreatic cancer is also often treated with chemotherapy and sometimes radiation therapy.

Benign pancreatic tumors and cysts are not malignant and will not spread to other parts of the body. However, it can be difficult to tell if a tumor is benign or malignant until after surgery. For this reason, benign pancreatic tumors are usually removed through surgery.

Both malignant pancreatic cancer and benign pancreatic tumors sometimes make high levels of pancreatic hormones that can cause symptoms of low or high blood sugar levels, stomach ulcers, and/or diarrhea. These cancers and tumors are called endocrine pancreatic tumors, or islet cell tumors.

Paraganglioma and pheochromocytoma are very rare tumors. They are endocrine tumors that can occur anywhere in the body but most often develop in the adrenal gland (pheochromocytoma) or in the abdomen, chest, or neck areas (paraganglioma). These tumors are usually benign but can be malignant (cancerous) in about 10% of cases. Paraganglioma and pheochromocytoma may produce high levels of hormones that can cause heart palpitations, sweating, nausea, and/or headaches.

Pituitary Gland: The pituitary gland is located in the hypothalamus in the base of the brain. The hormones released by the pituitary gland help control the body’s growth, blood pressure, thyroid activity, and sex hormone levels.

Pituitary gland cancer, or pituitary carcinoma, is a rare malignant (cancerous) growth in the pituitary gland. Pituitary gland cancer can spread to other tissues in the brain and other parts of the body. These tumors may be treated with medications or radiation therapy to reduce tumor size and may also be removed surgically.

Benign pituitary tumors, or adenomas, are very common. Some benign pituitary tumors do not have any noticeable symptoms and do not require any treatment. Other pituitary tumors produce elevated hormone levels that can cause symptoms of weight gain, increased sweating, changes in hair growth, changes in body growth, increased thyroid activity, infertility, irregular menstrual periods, and/or sexual dysfunction. These tumors may be treated with medications or radiation therapy to reduce tumor size and may also be removed surgically.

Retinoblastoma is a very rare eye cancer of the retina that occurs in young children. It may occur in one eye or both eyes (bilateral retinoblastoma).

A benign eye tumor may be surgically removed or monitored by a physician. Benign eye tumors may grow in size but they are not malignant (cancerous) and they will not invade other tissues.

Sarcoma is a rare and aggressive cancer. Sarcomas develop in specific tissues in the body called connective tissue, which includes bone, cartilage, muscle and fat. Treatment includes surgical removal and radiation therapy and chemotherapy, sometimes before and after surgery.

Sebaceous Carcinoma is a specific type of skin cancer. Sebaceous carcinoma is a rare cancer that develops from the sebaceous glands in the skin. Sebaceous carcinoma is different from sebaceous cysts, which are common non-cancerous growths in the sebaceous glands.

Sebaceous carcinoma is surgically removed. If the sebaceous carcinoma is large, a second surgery called Mohs surgery may be needed. Some patients may also undergo chemotherapy, radiation therapy, and/or Cryosurgery (cold treatment).

Stomach cancer is a malignant (cancerous) growth in tissue lining the wall of the stomach. It often metastasizes (spreads to) other parts of the body. One of the major risk factors for stomach cancer is a high level of the bacteria H. Pylori in the stomach.

Stomach cancer is treated by surgical removal of part or all of the stomach (gastrectomy) and sometimes treated with chemotherapy and radiation therapy.

Small intestine cancer is a malignant (cancerous) growth in the small intestines, or small bowel. It may invade (spread to) other parts of the body. Small intestine cancer is also named by the location of the cancer in the small intestine: duodenum cancer, jejunum cancer, or ileum cancer.

Small intestine Cancer is treated by surgical removal of the part of intestine with cancer and may also be treated with chemotherapy and/or radiation therapy.

Squamous Cell Carcinoma is a specific type of skin cancer.

Squamous cell carcinoma (sometimes called SCC) is surgically removed. If the squamous cell carcinoma is large, a second surgery called Mohs surgery may be needed. Some patients may also undergo chemotherapy, radiation therapy, and/or Cryosurgery (cold treatment).

Testicular cancer is a malignant (cancerous) growth in a testicle (the reproductive organs in men that produce sperm). It may invade (spread to) other parts of the body. Testicular cancer only occurs in men.

Testicular cancer is treated by surgical removal of the testicle with cancer and/or treated with radiation therapy or chemotherapy.

Thyroid: Types of thyroid cancer are defined by the type of thyroid tissue affected by cancer (the cancer pathology). This includes Medullary thyroid cancer, Papillary thyroid cancer, Follicular thyroid cancer, and other types. Thyroid cancer can metastasize, or spread, to other tissues in the body.

Thyroid cancer is treated with a lobectomy (removal of half the thyroid) or thyroidectomy (complete removal of the thyroid gland) and may also be treated with radiation therapy, radioactive iodine (RAI) treatment, and/or chemotherapy. People with thyroid cancer may be given hormone therapy to stop the thyroid cancer from growing as well as hormone-replacement therapy since the thyroid cannot produce enough thyroid hormone naturally after surgery.

Benign thyroid tumors are common. They include: a single thyroid cyst or nodule, multinodular goiter (enlargement of the thyroid gland due to many tumors), or solid goiter (enlargement of the thyroid gland). Thyroid tumors are often tested with a biopsy and may be removed with a lobectomy (removal of half the thyroid) or thyroidectomy (complete removal of the thyroid gland) or just followed by a physician.

Uterus/Endometrium: Uterine cancer (endometrial cancer) is a malignant (cancerous) growth in the lining of the uterus (also known as the womb, where a baby is carried). It may invade (spread to) other parts of the body. Uterine cancer only occurs in women.

The most common treatment for uterine cancer is surgical removal of the uterus (hysterectomy).

Benign Uterine Tumors are very common. They develop in the lining of the uterus. Benign uterine tumors are not malignant and will not spread to other parts of the boy. Depending on the number of tumors and size of each tumor, benign uterine tumors may be monitored by a physician over time or may be removed by surgery. Some women may have surgery to remove the entire uterus (hysterectomy).


This glossary is a handy reference guide providing an overview of various genetic and inherited conditions.

Genetics 101

Genetics 101

Genetics

Genetics is the study of heredity and specifically single genes in isolation and their effects on an organism.

Genomics

Genomics is a more recent term describing the study of all the genes in an individual (genome), including interactions with environmental factors and even interactions with other genes. Common complex conditions such as asthma, diabetes, heart disease are caused by gene-environment interactions.

The study of genomics is discovering new possibilities for new diagnostics techniques, therapies and treatments for some of these complex diseases.

Genome

A genome is all of a living organism’s genetic material, which includes the entire set of hereditary instructions for building, running and maintaining the organism.

Patterns of Inheritance

A pattern of inheritance describes the pathway in which a given genetic trait or genetic condition is passed down to the next generation.

Gene Mutation

A gene mutation is a permanent change in the DNA sequence that makes up a gene.

Gene mutations can be inherited from a parent or acquired during a person’s lifespan.

Hereditary mutations are mutations passed on from parent to child.

Acquired mutations occur in the DNA of individual cells at some time during a person’s lifespan. These types of mutations can be caused by environmental factors or during cell division. Acquired mutations cannot be passed on from a parent to a child.

Modes of Inheritance

Autosomal Dominant Inheritance

Autosomal dominant condition describes a condition that is expressed in an individual who has one damaged copy of the gene. These conditions are caused by genes that are located on chromosomes other than the sex chromosomes (X and Y).

Autosomal Recessive Inheritance

An autosomal recessive condition describes a condition that is expressed in an individual who have two damaged copies of the same gene or one damaged copy from each parent. Autosomal recessive conditions occur when genes that are located on chromosomes other than the sex chromosomes, X and Y are damaged.

Mitochondrial (Maternal) Inheritance

Mitochondrial inheritance describes a condition which is expressed in individuals with mutations in mitochondrial DNA (mtDNA). All mitochondria descend from a small number of mitochondria in the mother's egg at conception. Male sperm typically do not contribute mitochondria.