With the holidays fast approaching, lots of comfort food, fall sports, and time with family come to mind. What might not come to mind is genetics, however, the holidays, and specifically the family time together allows for a unique opportunity to learn more about your family’s history and health. For many, there is an unofficial family historian – the person who knows the names of family members long past, and the reasons for their passing. What often does not happen, is the passing of this information to a younger family member to keep up this historian tradition. This member of the family becomes invaluable when a genetic suspicion or diagnosis is made in a family. Collecting this information can inform genetics professionals and guide their diagnostic pursuit and testing strategy. But more often than not, families are not sure what information is valuable and what is not. Here we offer some tips on how to collect a useful family history this holiday season.
Step 1. Tackle one side of the family at a time.
Family history is only helpful when the relationships between individuals is clearly defined. Making sure to note whether someone is on your maternal or paternal side is extremely important. For example, if you discover that you had a grandmother and an aunt who both were diagnosed with breast cancer, this could suggest a genetic basis, however, not noting that the family members were on separate sides of the family – a paternal grandmother and a maternal aunt, is a mistake that could lead to an incorrect risk assessment.
Pro Tip: when recording your family history, use one color ink for all family members on your mother’s side and another color for your father’s side. This will help you keep track between the two sides. You can even use separate pages/documents to collect this information to keep the sides separate.
Step 2. You don’t have to draw a family tree yourself – but you do need to keep track of “who belongs to whom”
Yes, fancy family trees, or as genetics professionals call them, “pedigrees”, are a concise way to keep track of family relationships and healthcare information, but you can still collect vital information about your family’s health history without such an elaborate model. The important thing to remember is keeping separate sides of the family from one another and making clear the generations of individuals from grandparents → parents → children → grandchildren.
Pro Tip: If you are using a word processor to collect this information, try constructing the generations in a bulleted or numbered fashion starting with the eldest relative you know on each side. This allows you to clearly reference the patterns in the family. It also allows easy pedigree construction for a genetics professional.
- Great Grandpa (I) – age at death 76 years, cause emphysema
- John (Ia) – age 42 years, hypertension
- Micah (Iai) – age 7, healthy
- Sarah (Ib) – age 40 years, healthy. No children
- Tom (Ic) – age 36 years, asthma as a child
- Molly (Ici) – age 4 years, intellectual disability
- James (Icii) – age 2, normal development
- John (Ia) – age 42 years, hypertension
Step 3. Avoiding The Surprise Factor
It can seem overwhelming to collect all this information from family members, and it can be painful to discuss health histories of lost family. Letting your family members know that there is information you’d like to collect allows them to prepare for the conversation. It also allows them to look into specific information that they may not be prepared to provide, such as specific ages of onset, exact causes of death, and just how many siblings your grandmother had. It also is helpful to share with your family members why this information is important to you, whether it is part of a current workup for a health concern or just for your records should they become helpful in the future as genetics becomes more and more integrated in healthcare.
Step 4: What Do I Really Need to Know?
Using a standard list of questions can help focus your inquiry and can be shared with family members ahead of time. If they complete these questions before your family event – that’s more time you get to spend with them not talking about genetics and more time to focus on the holiday! Here is a sample list of questions that should be completed for each family member. For any question that is answered “yes”, try to collect as much detail as possible.
- How old are they (if living)? At what age did they pass (if deceased)?
- Were they born with a birth defect (cleft lip or palate, clubfoot, heart defect, etc)?
- Any difficulties in childhood related to development? Did they keep up with their peers?
- Any problems with school performance or behavior?
- Any chronic health problems for which they saw specialists, took medications, or had surgery for?
- Information on the age and method of diagnosis, location of the event (such as cancer), medications or surgeries used to treat, and whether the condition resolved or was cured.
- Any medical problems that were never definitively diagnosed?
- Was there difficulty with fertility, fetal losses or miscarriages?
- Note any diagnosed cause, timing of losses in pregnancy, and any complications
- At what age did they pass? What was the cause of death?
Once this information is collected, a few additional questions should be asked about their family in general. If the answer is yes, note what the history was and the patient’s relationship to the person who reported it. Example: “Aunt Martha reports a maternal aunt who was stillborn at birth”
- Stillborn babies, babies who died shortly after birth, or miscarriages?
- Any children born with birth defects or required pediatric surgery?
- Any individuals with cognitive disabilities, intellectual disabilities, required special classes (may be referred to as mental retardation, a previously used term)?
- Ethnicity of each side of the family
- Are any unions (individuals who had children together) related even distantly by blood?
Pro Tip: if you want to listen to your family members rather than spending time writing down everything, consider recording the conversation so you can later go back and compile the information after your holiday.
Step 5: Ok Now What?
If you are collecting this information for an ongoing healthcare workup, you may have additional or more specific questions to ask of your family members. Consult with your doctors about what additional information would be helpful. Once collected pass this information to your healthcare professional prior to your appointment. This will allow them to review the information, ask any additional questions, and have a risk assessment prepared before your appointment.
If you are gathering this information for future use, store it in a safe place once compiled. Then go get a second helping of holiday food!
About Lauren Bailey Flueckinger, MS, CGC: Lauren is a Certified Genetic Counselor who received her Master of Science in the field of Genetic Counseling at University of Alabama at Birmingham. She coordinates and provides healthcare and counseling services to patients and families in metabolic genetics clinic with special interest and experience in lysosomal storage disease, glycogen storage disease, newborn screening, hypophosphatasia, in her role as a Clinical Research Coordinator at Duke University Medical Center. In addition, she is a volunteer contributor to ThinkGenetic.