Is it nature or nurture? According to a team of investigators at Harvard Medical School and University of Queensland in Australia, nearly 40% of diseases can be attributed to genetics based on their 2022 findings published in Nature Genetics. So, turns out, your health is a highly complex mixed bag of both nature and nurture — with genetics playing a pretty significant role.

Put simply, your genetic makeup impacts your health. If you have a family medical history of certain diseases, you may be at an increased risk of acquiring the disease yourself. From breast and ovarian cancer to diabetes, osteoporosis, and heart disease, it’s important to understand the role genetics may play in your overall health, so you can take appropriate measures to protect yourself.

While genetics are an indicator of what may happen, you have power since there is yet around 60% left to choice. Environmental factors, social influence, and lifestyle choices could mean the difference in avoiding a disease system or succumbing to it. For this reason, your primary care provider is committed to obtaining your family medical history, and it is to your advantage to provide as much information as is available to you.

Primary Care is a Protectant

The medical field of primary care has several main purposes:

• Help prevent disease (with vaccines and lifestyle choices).
• Diagnose disease as early in the course as possible through screening tests, such as colonoscopies and mammograms.
• Treat these same diseases to improve the quality of and extend life.

In order to do this, one extremely important tool for the primary care provider to support patient health care is the family medical history.

A First Course of Action

Understanding patients’ family medical history is so important, that reviewing this information is often one of the first things that happens when patients establish care with their new provider. The information can be collected in a number of ways:

• Patients may receive a questionnaire prior to the visit.
• Medical support staff may gather the information during the check-in process.
• Providers may ask questions themselves as part of the visit.

No matter how the information is collected, it is a critical part of the visit.

Chronic Conditions and Genetics

The most common chronic diseases include diabetes, high blood pressure, and heart disease. Each have a genetic and environmental component.

For example, someone who has a poor diet, doesn’t exercise, and is overweight has an increased risk of developing diabetes, but that risk is significantly increased if there is a family medical history of diabetes as well. If the provider knows there is a family medical history of diabetes (a risk factor out of the patient’s control), then discussion can be had on other ways to reduce the risk of developing diabetes and ways to track and catch diabetic changes early in the course.

There are countless examples of this for many other chronic diseases as well.

Cancer and Genetics

Similarly, finding out that there are certain cancers in the family may lead to screening for the disease sooner than would have otherwise been done. For example, knowing that a patient’s parent had colon cancer at age 50 would move up the patient’s screening colonoscopy to age 40 instead of waiting until age 45 like someone without colon cancer in the family.

Catching certain cancers before symptoms develop can lead to earlier treatment and help improve outcomes to lower mortality and increase quality of life.

Rare Diseases and Genetics

Family medical history is also important for rarer diseases and especially those that have a strong genetic component. Without that key piece of information, a patient may go undiagnosed for years and may suffer more because of it.

Diagnosis in Less Time

Family medical history is also critical when trying to figure out what illness or disease a patient might have when first presenting with symptoms. Collecting this information helps form a differential diagnosis, which is the list of possible diseases that have to be considered with a certain set of symptoms.

For example, if a young woman tells her doctor that she is having chest pain, normally something like a heart attack would be lower on the differential diagnosis because most young people who have chest pain don’t end up getting diagnosed with a heart attack. However, if one of her parents had heart disease that was diagnosed at an early age, then suddenly there is a much larger concern for heart-related problems, and that might change what testing is done for the patient.

Without knowing the family medical history, the chance of missing certain diseases can increase dramatically.

Tests for Genetic Mutations

Knowledge of the family medical history may lead to genetic testing. This testing identifies mutations in the chromosomes, genes or proteins. These mutations can indicate the presence of a genetic condition as well as identify a patient’s risk for developing a certain condition or passing on a genetic disorder.

If it’s determined that a patient has a genetic mutation, the patient’s biological children might need to be tested for that same condition.

When the Family Medical History is Inaccessible

There are times, of course, when it is not feasible or possible to know a patient’s family medical history. Closed adoptions, early parental death and estrangement are just a few examples that make it difficult to gather that information. But, knowing that we don’t know the family medical history, can also play an important role, in that it can encourage adherence to preventative medicine — such as screening for cancer and heart disease.

It also means that rarer disorders may need to be considered in the differential since it’s possible there may be a rare disease in the biological family medical history, requiring a higher index of suspicion.

Just as it’s important to tell your provider what you know in your family medical history, it’s equally important to share what you don’t know.

Keep Family Medical History Up to Date

Not only is it useful to share your family medical history at the beginning of a provider/patient relationship, but it’s also extremely helpful to make sure to keep this information updated. If someone in the family develops a significant problem in the future, tell your providers, so they can update the medical record to take advantage of all the above benefits.

In summary, the family medical history plays many different roles in chronic disease and illness, and the value of this information from the provider’s standpoint cannot be understated. The next time you visit your health care provider, check to make sure your family medical history is up to date.

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About Scott Bartkoski, MD

Dr. Scott Bartkoski is a board-certified family medicine physician with clinical interests in preventative medicine for both men and women, epidemiology, sports medicine, dermatology, and chronic conditions like hypertension, diabetes, heart disease, and COPD. Dr. Bartkoski also enjoys seeing patients of all ages. Dr. Bartkoski earned his medical degree from the University of Missouri School of Medicine in Columbia, Missouri, and completed his family medicine residency at the University of Missouri Family & Community Medicine.

Dr. Bartkoski’s relationships with his patients focus on teamwork, where they are both equal members. He values patient autonomy and wants patients to make their own medical decisions, where he helps provide recommendations for them during that process based on current evidence and literature. Dr. Bartkoski prefers to guide patients on their health journey while working together as a team. He also views every medical decision as one with both risks and benefits. Dr. Bartkoski only does something if the benefits outweigh the risks and if it will help improve outcomes that matter to his patients. Outside of work, Dr. Bartkoski enjoys spending time with his wife and five kids, spending time outside, personal finance, and watching and playing sports, especially soccer.