Knowing and recording your family health history

By Mayo Clinic Health System staff

People are spending more time at home due to the COVID-19 pandemic and taking the opportunity to virtually connect with family members. In addition to learning a new recipe they have tried or the movies they have watched, you may want to virtually discuss your family health history.

Benefits of family health history

Many health conditions have a genetic link. Outlining your family health history can help you and your health care providers understand if you have an increased risk for developing certain conditions that are present in your family. If you are at risk, you may be able to take preventive measures to decrease your risk or undergo genetic testing to clarify your risk.

Genes versus environment

Your genes play a role in nearly all areas of your health. A gene is like an instruction manual for your body that tells your body how to function, develop and stay healthy. You have around 20,000 genes in your body. Some health conditions are almost completely determined by your genes, meaning having a specific harmful gene change ― called a mutation or pathogenic variant, like a spelling error within the instruction manual ― will cause you to develop a genetic condition. These genetic conditions are not something you would have caught or developed purely because of your environment.

However, your genes usually don't determine anything with complete certainty. Your family health history and genes do not make up your fate, and your environment still plays a role. Your environment may include factors you can't change, like your biological sex and age, as well as factors you can control, such as diet, physical activity level, and exposures to cigarette smoke and other chemicals. Multifactorial inheritance is when your genetic makeup and environment play a role in determining your risk for particular conditions. Many common conditions, such as autoimmune diseases, cancer and mental health conditions, like anxiety and depression, are considered multifactorial.

It may help to think of it with a metaphor. Imagine you are born with a cup for a particular health condition, like a cancer cup. If your cup overflows, you develop cancer. Some people are born with an empty cup, meaning those people have a genetically low risk for cancer. However, risk factors get added to your cup over time, such as age, and exposures to chemicals or radiation. Eventually, your cup may overflow, and you may develop cancer. Conversely, some people are born with a fairly full cup, meaning they are at risk from birth due to genetic risk factors they inherited. Yet, if they minimize the amount of risk factors being added to their cups over their lifetime, they may never develop cancer.

While you can't change your genes, you can control some aspects of your environment, such as diet, physical activity level and tobacco use. You have some control over how much goes into your various health cups over time. That's why it's still so important to live a healthy life, regardless of your personal and family health history.

Who to talk with

Generally, you should try to get information about:

• First-degree relatives — Parents, full siblings, children
• Second-degree relatives — Half-siblings, grandparents, aunts and uncles, nieces and nephews, grandchildren
• Third-degree relatives — First cousins, great-aunts and great-uncles, great-grandparents, great-grandchildren, half-aunts and half-uncles

It still may help to gather information from as many relatives as you can, but the more distantly related a person is, the less his or her health history is expected to affect you.

Both your mother's and father's side of your family are relevant for you, regardless of your biological sex or whether you more closely resemble one side of the family more than the other.

Many people find it challenging to capture a complete health history due to adoption, estrangement or simply a lack of details known or willing to be shared in the family. It's OK to simply record the information that you can gather and know that it can be updated if more information becomes available in the future.

What to ask about

In general, you should try to gather information about whether relatives are living, their current age or age at which they passed away, and their medical history. Relevant details about health history include any medical conditions they have had and at what age they were diagnosed. For example, you can ask if they have had major health concerns, have ongoing or chronic health concerns, see a specialist for any medical conditions or are taking medication for health conditions.

Some specific conditions to note include:

• Autism
• Birth defects, such as spina bifida, cleft palate or heart defects
• Cancer, tumors or polyps, noting specifically what organ or part of the body was affected
• Diabetes
• Heart conditions or abnormalities
• Infertility, multiple pregnancy losses (generally three or more), or babies who were stillborn or who passed away in infancy
• Kidney disease
• Learning problems, intellectual disabilities or developmental delays
• Mental illness or mental health conditions, such as depression, anxiety, bipolar disorder or schizophrenia
• Stroke
• Unique spots or patterns on their skin, such as cafe au lait spots, shagreen patches or many lumps and bumps under the skin
• Very tall or very short stature, compared to the rest of the family
• Vision or hearing loss at a young age or with no apparent cause
• Unexpected deaths due to known or unknown medical conditions
• Other unexplained medical conditions
• Any known genetic or chromosomal conditions, such as cystic fibrosis, muscular dystrophy, Huntington's disease or Down syndrome
• Genetic testing or genetic counseling

It's also helpful to know about your relatives' environmental risk factors, too, such as history of tobacco use, alcohol abuse, drug abuse, obesity or exposure to radiation or chemicals.

You can record the information you gather in many formats, such as this example of a family health history form from Mayo Clinic. Also, if you have relatives who have visited with a genetic counselor before, they may have already had a pedigree constructed — a visual representation of the family health history, like a family tree. It may help to ask if they'd be willing to share their pedigree, as this can save you a lot of time and work when gathering family history details.

Gathering information from relatives who have passed away

Sometimes gathering health information can be challenging if a relative has passed away. It's common for that person's diagnosis to be uncertain. For example, sometimes a cancer diagnosis will be labeled as a "female cancer," making relatives unsure if this was cervical, uterine, ovarian or breast cancer. It also is common to call any cancer of the gastrointestinal tract a "stomach cancer," although cancers of the stomach, small intestine, colon and pancreas differ from each other. Knowing the specific details about your relative's history is important in providing an accurate risk assessment for you, so you may need to dig a little deeper to get the accurate details.

Relatives' health records are the most helpful tool in getting these details, but they can be difficult to obtain. If no one has a hard copy of the decedent's records, the family may need to work with the health care institution to access the records. Sometimes records can be released to the decedent's personal representative or other authorized parties. In addition to health records, obituaries, death certificates, information from relatives and autopsy reports can help.

Next steps

After you have gathered your family health history, you should discuss it with your primary care provider who will determine what, if any, next steps are needed. If you have specific family history concerns you would like to address, you can ask for a referral to meet with a genetic counselor for further discussion. If you are seeing a genetic counselor, it is important that you bring your family health history along to the appointment so your family history can be discussed in detail.

Discrimination protection

Some people are concerned that information in a family health history can be used against them. The Genetic Information Nondiscrimination Act of 2008 is a federal law that protects people from genetic discrimination, specifically in the setting of health insurance and employment. This means your genetic information cannot be used against you when it comes to health insurance and employment.

Genetic information includes family health history genetic testing results, use of genetic services, such as genetic counseling, and participating in genetic research. Under the act, your family health history and genetic testing results cannot be considered a preexisting condition. It is important to know that there are some exceptions to the act, and it does not have protections in place for life insurance, long-term care insurance or disability insurance.