Family health history as an activity during the 2020 holiday season
Families need ways to connect during the 2020 holiday season. Finding meaningful and engaging activities to interact remotely can be a challenge. Asking family members about health history can be a bonding activity and help store valuable information for health reasons for generations to come. Here we offer some ideas for connecting and for collecting family health history.
How can collecting family health history help families connect remotely during the 2020 holiday season?
Many families are looking for ways to bond with distant relatives this holiday season. One more video call may seem unappealing at the end of this long year. Having a planned activity may help.
Younger members of the family may not have heard many of the stories that elder relatives have to share. If families connect remotely, they can share a goal to consolidate the family health history for future generations. In the process, senior family members, who may feel alone this season, will have an opportunity to help their younger family members in a very valuable way. When sharing the information, younger members can ask for some of the stories behind the health conditions. Some of these stories are fascinating and will help family members bond while giving a very specific purpose to the discussion.
What questions should people planning for pregnancy ask their relatives about family health history?
One way to collect family health history is in two categories: childhood conditions and adult-onset conditions.
Knowing about childhood conditions in the family health history is important for family members who are pregnant or planning for pregnancy. When getting ready for pregnancy, people usually want to do whatever they can to ensure a healthy pregnancy and a healthy baby. By knowing about any childhood health issues in the family, people can know if their future children could have a higher chance for those conditions.
To start, ask family members if there are any childhood conditions like birth defects or problems with their development. Go through each family member to record their age and health. This includes brothers, sisters, parents, nieces and nephews, aunts, uncles, grandparents, and cousins. Ask whether they had any of these childhood conditions. If the answer is yes, find out at what ages the family member first showed symptoms or got a diagnosis. If the person is living, note how old he or she is. Sadly, some people with more severe health problems may have passed away. If the person is deceased, find out the cause and the age of the death. Finally, be sure to note the details of how the person is related. Here are some examples:
My mother has a half-brother on her father’s side whose son was born with cleft lip. He is living and is now 25 years old and is healthy.
My cousin, the daughter of my mother’s full brother, had a DNA test that showed she is a carrier of cystic fibrosis. She is 28 years old and was tested because she was pregnant.
My maternal grandmother had a baby who died in infancy. The cause of death is not known.
Although discussing these conditions may seem a sad topic for the holidays, it is likely that the health conditions in family members had a significant impact on how relatives lived their lives. By asking, you are opening the possibility of bonding.
Some examples of childhood conditions are:
Physical birth defects, like heart defects, spina bifida, limb abnormalities, or kidney problems
Severe learning problems, autism, or delays in development
Nerve or muscle problems the may have caused difficulty with movement or walking
Growth problems, like unusually short or tall
Disabilities like significant vision or hearing loss
Young losses, like children, adolescents, or young adults who died
Known inherited diseases, or conditions that are caused primarily by variants in DNA, in the family
DNA testing for health or medical reasons
The important thing is to ask family members whether they have heard of anyone in the family, living or deceased, with an serious health problem, birth defect, or inherited disease, and if so, what was its name and its symptoms. A genetics expert like a genetic counselor, can later help assess whether the health issue is likely to pose a risk for a future child or pregnancy. Mainstream Genomics Family Screens are one way to access a genetic counselor to review family health history when planning for pregnancy.
Similarly, knowing about adult-onset conditions can help family members to better manage their health. If people know they have a higher chance to develop a condition, there may be medical screening available to them earlier than people typically get screening. Treatments like medications or surgeries may be available earlier, too.
Some examples of adult conditions are:
Cancer, including what type
Heart disease, such as heart attack, stroke, or a burst or torn blood vessel
Nerve or muscle disorder
Dementia or Alzheimer’s disease
Psychiatric conditions like depression or schizophrenia
Autoimmune disorders like lupus, type 1 diabetes, or multiple sclerosis
Known inherited disease in the family
DNA testing for health or medical reasons
For conditions that developed in adult family members, it is important to note the age of onset of symptoms, the age of diagnosis, and whether the person is living or not. If they are deceased, note the ages and causes of death. If they are living, note their ages at the time of your discussion. Any additional details you can collect from family members about the person's symptoms may be helpful later, too, and if they have any medical records about the person’s condition or any testing they had, it may be helpful to have a copy.
What should people do with the family health history after they collect it?
Genetics professionals like genetic counselors are specially trained in how to use family health history to predict the chances for inherited conditions and to know whether and what genetic testing or other medical screening might be helpful to families. In fact, studies show that about 10% of pregnancies have a genetic risk identified by a genetics professional reviewing in-depth family health history that routine prenatal care did not find. (1) Also, about 1-3% of adults have a genetic finding that requires medical attention. (2-3)
Most healthcare providers want the best for their patients. They will usually ask some basic family health history questions and offer some standard genetic testing. However, the science of genetics is changing very quickly, and it is hard to keep up.
A genetic counselor monitors the changes in genetics and will therefore sometimes suggest screening or testing that other medical providers may not.
To get started, people can take the family health history they collect and enter it into Mainstream Genomics’ Family Screens. A genetic counselor will review each case and create a Personalized Screening Plan. They also provide a version to take to a preconception care provider, fertility specialist, or prenatal care provider.
How does knowing family health history benefit people?
Collecting family health history is the first step toward the best possible care for current health and for a family’s future.
Being aware of family health history can provide reassurance, but if you happen to have a genetic disorder in your family, there are sometimes things you can do about it. Pharmaceutical companies have invested heavily in inherited diseases because inherited diseases often have known biologic pathways. As a result, many more treatments are available for conditions that in the past had only supportive care. Many families now have hope for much better outcomes for their family members with inherited diseases. However, the timing of the diagnosis (and therefore delivery of treatment) can be important. Without clues from family health history, a child or adult may have symptoms of a condition for a while before a diagnosis is made. Some therapies are more effective if they are provided before too many symptoms appear. If there is a known inherited condition in a family, family members can be tested for the condition and treated earlier.
Collecting family health history and genetic testing before pregnancy allows more family planning options.
The earlier people start planning for pregnancy and collecting family health history, the more options they have for family planning. For example, many people do not realize that the process of in vitro fertilization (IVF) can be used for genetic testing on embryos even if a couple has no concerns about fertility. Egg or sperm donation is another option available when planning for pregnancy and family health history or genetic testing shows there is a chance for an inherited disease. Others may decide to adopt or choose not to have children at all.
Some people may choose to test a pregnancy if family health history or genetic testing show that the baby has a higher chance for an inherited condition.
For people planning for pregnancy who know that they have DNA findings that pose a risk for a serious inherited condition in a child, another option is to wait until pregnancy to have genetic testing on the fetus. Special medical procedures called chorionic villus sampling (CVS), done in the late first trimester, or amniocentesis, done in the second trimester, allow genetic testing to show whether a child has an inherited disorder that is known in the family. Although prenatal testing is available to all pregnant women, some prenatal care providers may not offer this option unless they know that women have an increased risk of a genetic disorder. There are also some risks from testing a pregnancy, so some people prefer one of the other options described above or pass on testing together. Collecting family health history as early as possible will help ensure people have the most options available.
Knowing family health history makes it possible to inform other family members.
Some family members may not take the step to talk about family health history. Therefore, they may never know to share it with their healthcare providers or to seek an appointment with a genetic counselor. By collecting that valuable family health history, people can empower other relatives as well.
Meschede, SD and Horst, J. The practical importance of pedigree analysis in women considering invasive prenatal diagnosis for advanced maternal age or serum screening. Prenatal Diagnosis 2000.
Olfsen, et al. PLOS ONE 2015.
Haer-Wigman et al. Eur J Hum Genet 2018