The more Betsy Adler learned about her family’s medical history, the more interested and concerned she became. Several of her first cousins had been treated for cancer, and three of her male cousins had died of other kinds of cancers. Being proactive about her health, she made an appointment to speak with a genetic counselor who told her what to look for when reviewing her family medical history.
Adler had her blood drawn to test for inherited gene mutations that might put her or other members of her family at higher risk for certain kinds of cancers.
“Knowing what medical conditions run in your family can give you a heads-up on medical problems you may be at risk for, and from there you and your doctor can work to ensure your treatment is personalized to target certain risks and to possibly prevent them from occurring,” says Dr. Wendy Chung, a geneticist and chief of the department of pediatrics at Boston Children’s Hospital.
What Is a Family Medical History?
A family medical history is a record of your and your relatives’:
— Diseases
— Health conditions
— Treatments and medications
— Race and ethnicity
— Living environment
— Work environment
— Lifestyle habits
Because new genes are always being discovered and environmental and lifestyle factors are known to affect your health, your family health history will always be changing and evolving, Chung says.
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What Do Genes Have to Do With Your Family Medical History?
Each person has two copies of every gene — one from your father and one from your mother — that match up in different combinations to determine characteristics like hair and eye color, baldness and height. They can also predispose you to certain diseases.
Thousands of diseases — such as cystic fibrosis, sickle cell anemia and cancer — are caused when there’s a change or mutation in a gene.
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Why Is a Family Medical History Important?
Most people have relatives who have or had at least one chronic disease, such as cancer, heart disease or diabetes. Instead of relying on family lore, you would be well served to gather as much factual family medical information as possible to give you an idea of which conditions appear to recur within your family.
Once you’ve collected the appropriate information, you may find that certain medical conditions run in your family. You should review the information with your doctor to determine how the information affects you and your family and what action can be taken to reduce your risks for hereditary diseases.
While you can’t change your genetics, you can make lifestyle and environmental modifications to lessen the risk of inheriting certain medical conditions. If you find there’s a history of lung cancer in your family, for example, you can quit smoking and avoid secondhand smoke. If there’s a history of diabetes in your family, you can alter your diet and watch your sugar intake. If you notice that family members have suffered heart disease and strokes, you can carefully monitor and lower your blood pressure.
Your doctors may advise you to undergo genetic testing. For example, people of eastern European Jewish descent are known to be at a high risk for BRCA1 and BRCA2 gene mutations that increase the risk for breast and ovarian cancers.
If you learn that various relatives have had colorectal cancer, your doctor will likely suggest that you and your family members begin to undergo screening at an earlier age than is normally recommended.
Like Adler, who had 71 genetic markers looked at for cancer mutations, you too can be proactive with your health.
“As more genetic tests become available, more people are taking them to investigate their family history of diseases,” Chung says. “The more we discover about genetic medical histories, the more personalized your medical care should become.”
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Hereditary Health Conditions
Many health and medical conditions run in families. Here are some of the most common hereditary health conditions:
Heart disease
Everyone has some risk for heart disease, but if one of your family members — such as a parent or sibling — was diagnosed with heart disease before the age of 60, you have a greater chance of developing the condition. You can mitigate this risk by following a heart-healthy diet to lower your cholesterol level and engaging in more physical activity.
High blood pressure
A family history of high blood pressure increases your risk for this condition. Your risk also increases with age, being overweight or having a family history of hypertension. Losing weight, exercising regularly, lowering salt in your diet, quitting smoking, easing stress and lowering cholesterol and blood sugar can lessen your risk.
Asthma
You’re more likely to get asthma if you have parents or siblings with asthma or allergies. Avoid exposure to triggers to lessen your allergy symptoms.
Diabetes
Children of people with diabetes are more likely to get diabetes. You can reduce your likelihood of getting the disease by following a healthy diet filled with fruits, vegetables and lean proteins. It also helps to exercise regularly and maintain a healthy weight.
Breast and ovarian cancer
If you have a parent, sibling or child with breast or ovarian cancer, you are at higher risk of being diagnosed with these cancers. While your risk increases with age, genetic and environmental factors also play a part.
Colorectal cancer
You’re at higher risk for colon cancer if you have multiple relatives who have or have had colon cancer, especially if they were diagnosed before the age of 50. As more young adults are being diagnosed with colon cancer, a family history of polyps can also prompt your doctor to recommend early screening.
Single cell disorders
If you have a parent, sibling or child with a single cell disorder, you are at higher risk than the general population of developing one of these disorders. There are more than 6,000 single cell disorders that are caused by mutations in single genes. These kinds of disorders — including Huntington’s disease, Marfan syndrome and Duchenne muscular dystrophy — occur in about one in 300 births and often run in families. Learn about prenatal screenings as part of your pregnancy checklist if these diseases appear in your family history.
Sickle cell disease
This is an inherited blood disorder that occurs when the hemoglobin in the red blood cells is abnormal and prevents the blood cells from carrying oxygen to all parts of the body. In the United States, a test for sickle cell disease is done during newborn screening. If you or your partner have sickle cell disease or the sickle cell trait, the amniotic fluid surrounding a baby in the womb can also be sampled to determine if the baby has the disease.
Cystic fibrosis
This is a genetic disorder that affects the lungs, pancreas and other organs. People who have it have problems with the gland that makes sweat and mucus. Most diagnoses occur when newborns are tested, but if you have a family history, you should seek genetic counseling and prenatal genetic testing.
Tay-Sachs disease
Tay-Sachs is a rare inherited brain disease passed from parents to children. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances build up to toxic levels in the brain and spinal cord and affect the functions of the nerve cells. Symptoms begin to show up at about three to six months, and children with Tay-Sachs live only a few years.
Risk factors for this disease are highest in eastern and central European Jewish communities, certain French-Canadian communities in Quebec, Cajun communities in Louisiana and in some Amish communities. A blood test can identify carriers who can then seek genetic counseling.
Obesity
About 400 different genes have been shown to be involved with being overweight or obese. Genes affect appetite, sense of fullness, metabolism, food cravings, body fat distribution and the tendency to stress eat. But being obese is also environmental and may have nothing to do with a family history. You can mitigate your risk by changing your eating habits and getting more physical exercise.
Arthritis
The most common type of arthritis is osteoarthritis, which can cause inflammation and damage to joints when the cartilage that covers the ends of the bones degenerates. Some forms of osteoarthritis run in families and are caused by mutations in the genes for collagen. Pain can be mitigated with medication, low-impact exercises, weight loss and therapies that reduce stress.
What Information to Collect
You can begin to collect your family medical history by talking to your relatives from both your mother and father’s sides of the family:
— First-degree relatives: Parents, siblings and children
— Second-degree relatives: Half siblings, grandparents, aunts and uncles, nieces and nephews and grandchildren
— Third-degree relatives. First cousins, great aunts and uncles, great grandparents, great grandchildren and half aunts and uncles.
The more distant a relative, the less their medical history could affect you.
“Once you’ve collected family medical history, it can be a clear way to determine whether you and your family need to worry about certain medical conditions,” says Adam Buchanan, a genetic counselor and chair of the department of genomic health at Geisinger Health. “You may see obvious patterns.”
Starting with your parents, gather the following information:
— Relationship to you
— Date of birth
— Ethnicity and ancestry
— Gender
— Age, if living
— Cause of death
— Age at death
— Diseases and medical conditions of family members, including mental health conditions
— At what age medical conditions began and at what age they were diagnosed
— Medications taken by family members
— Surgeries and hospitalizations
— Lifestyle habits like smoking, alcohol or substance abuse
— Pregnancy complications
— Exercise habits
— Eating habits
The Surgeon General’s My Family Health Portrait is an internet-based tool that can help you learn how to collect and document your family health and medical history.
If you’re adopted, it’s important for you and your family to learn about your birth parents. You may be able to reach out to them or to contact the adoption agency they worked with.
Family Medical History Red Flags
Once you’ve gathered information on family medical conditions, you may notice “red flags” or familial situations that may give you reason for greater surveillance, more specific screening, earlier screening at a younger age than the general population and genetic testing.
Here are some examples of those red flags:
— Consistency. When a disease or condition shows up consistently in your family history, you should pay attention and consult with your physicians.
— Age of onset. Pay attention when you see more than one family member having a disease at a younger age than the general population with the same condition. You should speak with your health care providers and seek counseling.
— Different manifestations of the same disease or condition. If you see a family pattern of colon cancer, uterine cancer and ovarian cancer, they are all part of a condition called Lynch syndrome. In this case, you should speak with your health care providers.
Bottom Line
While you may see similar diseases appearing in your family medical history, most doctors are trained to recognize patterns that you and your family members might not, so it’s important to share the information with your medical providers.
“You should want to know your family’s medical history to keep you and your relatives healthy and to get ahead of anything that might be coming your way,” Chung says.
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How to Put Together a Family Medical History originally appeared on usnews.com
