Using DNA and Genealogy To Understand Family Health History
How many times have you filled out a family medical history survey when you go in for a doctor visit? How confident are you that you actually know your family’s medical history? Could being aware of high blood pressure, heart disease, or genetic mutations that can lead to cancer help you understand your own health and sensitivities better?
Or maybe you’ve been experiencing health issues and wonder if your family’s history could be useful to help you on your healing journey.
One of the benefits of understanding your family history is knowing about any health conditions, physical and mental, that have been in the family for generations. Most of the time, you’re not alone in your health concerns and struggles.
THEMES IN THIS ARTICLE:
• Exploring stories and databases to learn about family mental and physical health conditions
• Identifying genetic mutations for breast cancer
• Solving urgent medical conditions with DNA testing (Melanie)
• Uncovering health conditions beyond cause of death in vital records using stories, DNA, etc.
How Genealogy Research Can Inform Lifestyle and Health Decisions
REAL LIFE SCENARIO 1:
Using online DNA databases and tools, one of our professional genealogists discovered that her melanoma diagnosis in her 20s has genetic basis.
REAL LIFE SCENARIO 2:
Her husband’s 89-year-old grandmother (who is now 98) has a rare gene variant associated with long life–people with this gene variant often live to be 100. This information has helped the whole family know how to take care of their grandmother who would most likely live much longer than many of us.
REAL LIFE SCENARIO 3:
An adopted relative learned that she has many genes associated with possibly developing certain food allergies over time.
REAL LIFE SCENARIO 4:
One of our researcher’s mother was diagnosed with breast cancer several years ago. It was frightening news to hear, but wasn’t totally surprising either–her mother is one of many women in her immediate family to have had the same disease. Heart disease, Parkinson’s, cancer, and dementia are all also common diseases in their family.
As a genealogy researcher, the best way she felt she could help her family was not only to research more about their health history for her own need to feel proactive, but to share the information with her family members as well. It also helped her know what health risks her own children might have to face someday due to their inherited genetics.
She used Promethease (more about this online tool later) as part of her research, and was able to share the report with her mother’s oncologist. Luckily, our researcher learned that she did not carry the BRCA “breast cancer gene,” and her mother’s oncologist reported that, “this information was instrumental in helping to give the best care possible.”
REAL LIFE SCENARIO 5:
Another one of our professional researchers wanted to know if and how she had the BRCA “breast cancer” gene. Neither she nor her medical providers could tell her how at risk she was even though she had several family members with breast cancer when she was young. She decided to use her genealogy research skills to bring light to her health history.
As she began her research, she connected with a cousin who had recently been diagnosed with cancer. Her cousin wasn’t aware of any family history–their great-grandmother died of breast cancer at the age of 43, but testing revealed that she, the cousin, did indeed carry the BRCA mutation.
She continued her genealogy research and identified multiple female descendants who had breast cancer. A pattern emerged for the BRCA gene and revealed the path the mutation had traveled from generation to generation until it surfaced in the current generation in her cousin’s breast cancer diagnosis. Our researcher fortunately tested negative for the BRCA gene, but is grateful she could share vital information with her family to help them make informed decisions for better health outcomes.
The more you know about your family’s health history and genetics, the more you can make decisions to live a long and healthy life.
Genealogy Methods to Help Identify Generational Family Health Issues
Genealogy research and learning about your medical health history both typically begin with the same strategy: ask older family members lots of questions!
What might you find out about family illness and disease if you talk with your grandparents? If you know about mental and physical health conditions that are common in your family, how might that help you be more proactive when it comes to your own health and scheduling regular checkups and screenings with your doctors? How might you even change your lifestyle?
WHEN OLDER FAMILY MEMBERS AREN’T AVAILABLE: DNA Testing!
What can you do if you don’t have access to older family members? How can you find out about generational family health issues? This is where genealogy research can be incredibly useful in your daily life!
There are many reasons people don’t have the opportunity to discuss any family matters with their biological family members. Of course, it’s difficult to have discussions with deceased family members, but there are many reasons why people don’t have access to their biological family. Whether a person was adopted or there’s a case of unknown parentage, learning about your family’s health history is still possible.
It’s our passion and profession to help people learn about their family history, including physical and mental health conditions throughout the generations. In addition to helping people learn about their ethnicity and finding deceased relatives, DNA can be a powerful tool to help an individual learn more about their personal health history. Each of the major DNA testing companies (23andMe, MyHeritage, FamilyTreeDNA, and AncestryDNA) offer reports about genes you have that are associated with certain traits and health conditions, including metabolic conditions, cancers, and allergies.
You can also use third-party tools, such as Promethease, that allow you to import your DNA test data from major testing companies and compare your data with a database of studies on gene variants associated with certain health conditions. Be cautious that some of these associations are based on just one or two studies with small sample sizes, so conclusions may change as more research evolves.
Using DNA Testing to Solve Urgent Medical Problems
DNA TESTS TO DISCOVER BIOLOGICAL FAMILY AND RECEIVE LIFE-SAVING INFORMATION
One of our researchers received an unexpected message from a previously unknown half-sibling who was grappling with end-stage kidney disease. When he was diagnosed, he decided to delve into his ancestry through a DNA test, hoping to uncover his biological father and his paternal family tree. Little did he know that this seemingly routine exploration would lead to a life-changing discovery.
He and his wife decided to undergo further medical tests to confirm the compatibility and explore the possibility of becoming living kidney donors. The evaluations revealed that her relative was not a good match. However, his wife ended up being a perfect match for their newly found family member.
Without hesitation, she decided to donate one of her kidneys to save the life of a relative in a rather tangled family tree. The transplant was a success and instilled a deep sense of gratitude and interconnectedness throughout the entire family.
Another researcher was able to help her relative with misattributed paternity discover the identity of his father, and they found out that his father and his father’s brother both died young from a hereditary kidney condition. His father died of this condition before his birth. As they continued to study this condition and its inheritance pattern, they uncovered some possible answers for other tragic early deaths within the family that occurred in the 1800s and early 1900s.
Using Cause of Death on Death Certificates to Influence Lifestyle Decisions
If you’re unsure where to start with medical history research, a great place to start is looking for causes of death on ancestors’ death certificates. Doing so can reveal patterns of disease and medical predispositions. For example, one of our researchers developed the following pedigree of causes of death and medical conditions mentioned on death certificates and obituaries. Doing so highlighted the need to consider heart and cardiovascular health in his personal health goals and lifestyle decisions.
Even so, consideration of information on death certificates is a narrow view on the complete medical history of a family. Interviews with relatives, close examination of biographies, and conversations with extended family members can also aid in the identification of other conditions which may not always make it onto a death certificate as a primary or contributory cause of death, but are still important for consideration.
When a member of his family discovered that she had a genetic marker that underlies a rare blood clotting disorder, discussion with other family members revealed that his father and each of his paternal aunts and uncles had a history of blood clots, pulmonary embolisms, and fertility challenges relating to the same underlying condition. Follow-up testing also revealed that some of his other siblings and cousins also had the same mutations. Active exploration and testing for the condition helped guide treatment plans for several members of the family.
Consideration of family stories, interviews, and histories also revealed a pattern of depression, anxiety, and mental illness that informed treatment plans, decisions, and preventative measures.
Finally, genetic genealogy testing for our researcher and his family members helped to pinpoint the exact segments of DNA that he and his siblings inherited from their more distant ancestors. Exploration of the genes associated with these segments helped to identify additional traits, both medical and non-medical that he had inherited from more distant generations of ancestors.
As science and technology continue to advance, the intersection of genealogy and medicine holds the potential promise of unraveling mysteries, solving medical puzzles, and even saving lives through the bonds that connect us all.
If you’d like help interpreting DNA results or knowing how to find out more about your family’s medical history, you can schedule a consultation with one of our professional genealogists here.