Family Health History

Contents

1. What the record contains
2. How the history is gathered
3. Patterns that raise questions
4. From history to genetic counseling
5. How guidelines use the history
6. A record that is hard to keep

Preventive women’s healthcare, which took a growing share of Candace Cooley’s later practice years, begins with questions about relatives as well as about the patient in the room. Those questions build a family health history, and it is often confused with something it is not: a genetic result. The Centers for Disease Control and Prevention defines a family health history as a record of the diseases and conditions that run in a family, and notes that relatives share habits and surroundings as well as changes in certain genes.¹ A genetic test is narrower. It reads DNA from saliva or blood for specific changes.¹ A family history can suggest that such a test is worth discussing, but it cannot say whether a given person carries a change, and a test cannot capture what a shared kitchen or shared neighborhood contributes.

What the record contains

For cancer, the CDC asks about blood relatives only: parents and grandparents, aunts and uncles, siblings, nieces and nephews, and children. Stepfamily members are left out.¹ For each relative the useful facts are the kind of cancer, the age at diagnosis and, for those who have died, the age and cause of death.¹ A MedlinePlus Magazine article from the National Institutes of Health widens the list to chronic disease, asking about heart disease, diabetes, high blood pressure, high cholesterol, stroke and ancestry, and suggests reaching two generations back.⁶ A researcher at the National Human Genome Research Institute quoted there explains that a relative’s age at diagnosis helps a clinician decide when screening should begin.⁶ Cancer is only one use. The Missouri Department of Health and Senior Services counts family history among the most important risk factors for heart disease, stroke, diabetes, cancer and certain psychiatric disorders, and suggests that the history be shared with every clinician a person sees and kept as a permanent part of the medical file.⁵

Figure

What a cancer family history collects

1. 01
   WhoParents, grandparents, aunts, uncles, siblings, nieces, nephews and children, by blood only.
2. 02
   Which cancerThe specific kind of cancer each relative had.
3. 03
   Age at diagnosisHow old each relative was when the cancer was found.
4. 04
   OutcomeWhether the relative is living, and if not, the age and cause of death.

How the history is gathered

Collection usually happens outside the clinic. In 2004 the Surgeon General named Thanksgiving the first National Family History Day, encouraging families to use the holiday to share health information, according to the same state health department.⁵ A post on the CDC genomics blog points out that older relatives often know most about earlier generations and those who have died.³ MedlinePlus lists several ways to organize the work, from one relative acting as collector to a checklist sorted by condition, and the CDC adds family records, death certificates and obituaries as places to fill gaps.⁶¹ Both stress that partial information is still worth recording.

Patterns that raise questions

Some patterns carry more weight than others. The CDC lists several worth raising: a relative diagnosed before 50 with uterine, breast or colorectal cancer; two or more relatives on the same side with those cancers; a female relative with ovarian cancer; a male relative with breast cancer; and Eastern European or Ashkenazi Jewish ancestry.¹ Two of the most common inherited conditions behind such patterns are hereditary breast and ovarian cancer syndrome and Lynch syndrome, which raises the risk of colorectal, uterine and ovarian cancers.¹ The federal MyHealthfinder page adds that breast cancer at an early age, or several cases of breast and ovarian cancer in one family, may point toward a harmful change in the BRCA1 or BRCA2 gene.²

From history to genetic counseling

Testing is not offered to everyone. Before it is recommended, MyHealthfinder explains, there is usually a risk assessment with a genetic counselor or another professional who reviews personal and family history.² The National Cancer Institute’s progress report describes a genetic counselor as someone with special training in medical genetics and counseling who discusses the risks, benefits and limits of testing, and it tracks how often the conversation happens.⁴ In 2023, 31.6 percent of women aged 18 and older with a family history of breast or ovarian cancer had discussed a genetic test with a health professional.⁴ A positive result does not mean cancer will follow, the CDC notes; it opens a discussion of earlier or more frequent screening and other ways to manage risk.¹

Figure

Breast screening by risk level

	Average risk	High risk
Who qualifies	No strong family history, known gene change or early chest radiation	Lifetime risk of about 20 to 25 percent or more, or a known BRCA gene change
Starting point	Optional yearly mammograms from 40, yearly from 45	Typically from age 30
Tests	Mammogram	Mammogram and breast MRI each year
Later years	Every other year allowed from 55	Set with her care team

How guidelines use the history

Screening guidance turns family history into categories. The American Cancer Society treats a woman as average risk for breast cancer only when she has no strong family history, no known gene change and no chest radiation before 30, among other conditions.⁷ Women with a lifetime risk of about 20 to 25 percent or more, as estimated by tools built mainly on family history, fall into its high risk group, for which it advises a yearly MRI alongside a mammogram, typically from age 30.⁷ The society specifies that those tools should include first degree relatives and second degree relatives such as aunts and grandparents on both sides, and it notes that different tools can give the same person different estimates.⁷ It also asks that changes in family history be reviewed over time, since a new diagnosis in a relative can change the picture.⁷ Cervical screening follows a different logic, traced in the entry on how cervical screening guidelines changed.

A record that is hard to keep

Belief runs ahead of practice. The CDC Healthstyles survey of 2004 found that 96 percent of Americans considered family history important to their health, yet only about a third had tried to gather it.⁵ Recording is uneven inside medicine as well. The CDC genomics blog reports that family history is still not entered in electronic records in a standard way, which limits its use in cancer registries and public health work, and that people react to a family pattern differently: some seek earlier screening, while others assume the disease cannot be avoided.³ MedlinePlus lists what a complete record can do: give clinicians a chance to find disease at an earlier stage, guide preventive care and other ways to lower risk, and prompt relatives to change habits of their own.⁶ It also urges families to pass the record down so younger relatives can add to it.⁶ Keeping the record current across visits is one argument for continuity of care.

Figure

Belief and practice in 2004

of Americans said knowing family history matters to their health

96 percent

had ever tried to gather and organize it

one third

Most families fall somewhere in the ordinary middle. Having a relative with a common condition such as diabetes is not a forecast, MedlinePlus notes, since lifestyle and environment shape how complex diseases develop.⁶ Even a confirmed gene change describes raised risk rather than a diagnosis; MyHealthfinder notes that genetic testing cannot say whether a person will develop cancer, and that doctors do not recommend it for everyone.² It adds that whatever a family history shows, routine screenings and checkups still apply.² Where a particular history places one woman, and what that means for her, is a judgment she makes with her own clinician.