Gather your family health history; it could save your life

By Susan Murphy

When John Presutti, D.O., a Mayo Clinic family medicine physician, was increasingly finding himself on the front lines of a direct-to-consumer genetic testing boom, he saw an opportunity.

"More and more patients were doing at-home genetic testing and bringing results to the office," Dr. Presutti says. "It really made sense to me that in family medicine we could be missing opportunities to recommend that patients receive genetic counseling and genetic testing based on their family history."

Dr. Presutti, realizing the potential for reducing late-stage cancer diagnoses and saving lives, decided he wanted to further integrate genomics into his everyday medical decision-making for his patients. His quest led him to Mayo Clinic's Center for Individualized Medicine, where he joined with a team of experts working to unravel the complexities of the human genome in effort to precisely diagnose, treat and predict disease.

As a family physician, Dr. Presutti began to see how his role was essential in helping identify patients at high risk for cancer and referring them for genetic testing or counseling when needed.

"We know that approximately 10% of cancers are considered inherited, and there are simple guidelines that exist where we can spend some time discussing a patient's family health history, create some awareness for them, and potentially give them a better outcome," Dr. Presutti says. "If I can help identify those patients at high risk, then we can start screening them earlier and avoid the situation of metastatic cancer and early cancer deaths."

Dr. Presutti emphasizes to his patients that being predisposed to cancer does not mean they will definitely develop the disease, but he says uncovering hidden inherited genetic mutations can lead to opportunities for early screenings and preventive measures, cancer management, and targeted cancer therapies.

Here are some examples of family cancer syndromes:

• Hereditary breast and ovarian cancer syndrome is an inherited mutation in the BRCA1 or BRCA2 gene. Along with breast and ovarian cancer, this syndrome also can lead to male breast cancer, pancreatic cancer and prostate cancer.
• Lynch syndrome is a cluster of mutations that can boost the risk of a wide range of cancers, including colon, rectal, endometrial, ovarian, stomach, small intestine, pancreas, kidney, brain, uterus and bile duct. Lynch syndrome can be caused by a mutation in any of several mismatch repair genes, including MLH1, MSH2, MSH6, PMS1 and PMS2.
• Li-Fraumeni syndrome is a rare inherited syndrome caused by a mutation in the TP53 gene that can lead to the development of a number of cancers, including sarcoma, leukemia, brain cancers, cancers of the adrenal cortex, and breast cancer.

How to talk to your family about their health history

Dr. Presutti suggests that people ask their relatives about diseases they have had, and when they were diagnosed. Here is an example of some questions:

• Do you have chronic conditions, such as heart disease or diabetes, high blood pressure or high cholesterol?
• Have you had serious diseases, such as cancer or stroke?
• How old were you when each of these diseases or health conditions was diagnosed?
• What is your family's ancestry? What countries or regions did your ancestors come from?
• What were the causes and ages of death for relatives who have died?

Dr. Presutti says a red flag should go up if any family members have any of these health history situations listed by the National Cancer Institute:

• Cancer was diagnosed at an unusually young age.
• Several different types of cancer occurred in the same person.
• Cancer in both organs in a set of paired organs, such as both kidneys or both breasts.
• Several first-degree relatives ― parents, siblings or a person's children ― have the same type of cancer, such as a mother, daughter, and sisters with breast cancer; family members with breast or ovarian cancer; and family members with colon cancer and endometrial cancer.
• Unusual cases of a specific cancer type, such as breast cancer in a man.
• The presence of birth defects that are known to be associated with inherited cancer syndromes, such as certain noncancerous, or benign, skin growths and skeletal abnormalities associated with neurofibromatosis type 1.
• Being a member of a racial or ethnic group that is known to have an increased risk of having a certain inherited cancer susceptibility syndrome.
• Several family members with cancer.

What to do with the information

If you have a family health history of disease, here are some steps to take:

• Share your family health history with your primary care provider.
• Share this information with your relatives.
• Keep it in a safe place for future reference.
• Update the information every year.

Genetic counseling at Mayo Clinic

The Mayo Clinic Genetic Counseling Team in the Department of Clinical Genomics helps patients and their families by providing information and support to help them understand their family history. The team also works closely with physicians and researchers in Mayo Clinic's Center for Individualized Medicine to help patients review predictive testing options that may allow early identification of genetic risks.

The team of counselors also monitor guidelines for genetic testing, notifying health care providers when a new test is available that may improve diagnosis or help identify targeted treatments for a specific disease.

For more information on genetic testing, visit Mayo Clinic's Department of Clinical Genomics.

A version of this story was originally published on the Mayo Clinic Center for Individualized Medicine blog.