It's In The Genes: Record Your Family Health History
Medically reviewed on Mar 11, 2018 by L. Anderson, PharmD.
What is a Genetic Disease?
Genetics - it's a popular, albeit complicated, topic in healthcare these days, especially since the full mapping of the human genome (the complete set of human genes), advances in genomic research, and the Cancer Moonshot Initiative.
But how does genetics affect your health as an individual?
Genes are small cell structures that define how your body looks and works. A genetic disease is caused by a harmful change (a mutation) in a gene.
Examples of genetic diseases are sickle cell anemia, and muscular dystrophy. Cancer, often caused by genetic changes later in life due to environmental or lifestyle causes, can also have a genetic link. The full mapping of the human genome furthers life-saving research of the genetic basis of almost 5,000 diseases.
Do I Need a Family Health History?
Ideally, we all do.
A family health history is more than just jotting down when you get a cold or the flu. It's a family tree medical history that details the diseases and health conditions that occur in a family over time, as well as lifestyle habits like weight, smoking, drinking, and living environments.
The history shows if you, your children, or your grandchildren might be at risk for developing serious health problems. Your doctor can use this history to help gauge your risk of diseases that run in your family.
Another benefit: a family health history can be passed from generation to generation to help your family members stay healthier.
What Information Do I Need in a Family Health History?
Be patient: gathering this information can take some time.
Try to gather information from as many surviving generations of family as possible, preferably at least three.
Gather data from all relatives and be sure to update over time.
Include information such as:
How Will My Doctor Use My Family Health History?
A family health history allows you and your doctor to identify illness patterns that might be important to your own health or someone in your family.
Your doctor might use your family health history to:
- Look for your risk of a certain disease, and if it can be passed on.
- Suggest lifestyle, exercise, or diet changes.
- Determine if you need tests - genetic or otherwise.
- Identify family members who may be at risk of a disease, especially at an earlier age.
- Identify unexpected illnesses.
Genetic testing for certain genes that may elevate risk for disease is becoming more commonplace. In March 2018, the FDA approved the first consumer test for three BRCA gene mutations associated with breast, ovarian and prostate cancer risk.
The test, from manufacturer 23nMe, analyzes DNA from saliva collected by clients but it's not a test that detect the most common BRCA genes in the general population. The three mutations detected by the test occur in about 2 percent of Ashkenazi Jewish women, but only 0 to 0.1 percent of other ethnic groups, according to the U.S. National Cancer Institute.
Is It All in the Family?
If you have a disease, it doesn't always mean that you will pass it on. Genes, lifestyles, and environment can all influence the development of disease.
Common health problems with a genetic influence that may run in families include:
Genes: Who Wears the Pants in the Family?
Some diseases are clearly genetic and come from a mutation in a gene inherited from one or both parents.
Chromosomes contain genes, the basic physical unit of inheritance. Humans have 23 pairs of chromosomes that contain over 20,000 genes. Genes are passed down from parents to children, and they contain information that influences what set of traits a person will have.
Examples of genetic diseases passed through genes are Huntington's disease, cystic fibrosis, and muscular dystrophy, but these genetic disorders are relatively rare.
Most genetic diseases are caused by new mutations or changes to the DNA.
How Do Genes Cause Disease?
Some disorders are caused by a mutation in a single gene (monogenic), but are relatively rare compared to "multifactorial" diseases like diabetes and heart disease. Examples of monogenic diseases include:
- sickle cell
- cystic fibrosis
- Tay-Sachs disease.
The mutated gene may be passed down through a family. Subsequent generations of children may inherit the gene from one or both parental chromosomes that leads to disease.
Monogenic diseases may be "dominant", meaning that just one gene must be passed down from either the mother or father for the disease to be present, or "recessive", meaning the mutated gene must be inherited from both parents.
What Diseases Are Linked With Genes?
As research expands on the human genome, scientists are learning that nearly all diseases may have a genetic component. But not all genetic diseases are strictly due to one mutated, inherited gene.
For example, "multifactorial inheritance disorders" are caused by acquiring small variations in genes, often associated with older age, environmental factors, or lifestyle circumstances.
Heart disease, diabetes, and most cancers are examples of such disorders. Behavioral disorders such as alcoholism, obesity, mental illness and Alzheimer's disease are also under research to determine if there is a genetic contribution.
The "Cancer Moonshot"
Researchers remain hopeful and exicted about the future creation of a large genomic dataset that can be used to examine the underlying causes of disease and develop treatments that target genetic mutations. However, the future of medical research is always at risk of political shifts, too.
In September 2016, Vice President Joe Biden laid out plans to foster collaborative research, clinical trials, and access to investigational treatments in the "Cancer Moonshot" initiative.
World-renowned cancer centers such as MD Anderson Cancer Center in Houston, Texas will help lead these programs to push forward new targeted treatments that are extending lives in cancer patients. It is hopeful that this cancer research, and other novel, life-saving research, will continue to be funded through the National Institutes of Health (NIH), and other governmental, non-profit, and charity organizations.
How Should I Approach This Task?
No matter the political climate, you should still remain positive about the future of genomics and how it can help you and your family. However, keep in mind that gathering family health information can be a touchy subject.
Large get-togethers at holidays or family reunions may be a good time to explain the project most efficiently -- and fatce-to-face. But don't expect everyone to be on board initially. Some family members may be reluctant to share information, and that is their right.
If you notice resistance, emphasize the purpose is to create a tool to enable better health over generations. Respect everyone's privacy. Don't fill in unknown data with a guess. Ensure that the data is secure, encrypted and protected if put online.
The U.S. Surgeon General's 'My Family Health Portrait' is a secure, private, internet-based tool that may make it easier for you to record and share your family's health history.
Finished: It's In The Genes - Record Your Family Health History
- FDA Approves First Home Test for Three BRCA Breast Cancer Genes. March 6, 2018. Accessed March 10, 2018 at https://www.drugs.com/news/fda-approves-first-home-test-three-brca-breast-cancer-genes-68913.html
- National Institute on Aging (NIH). Obtaining an Older Patient's Medical History Accessed March 10, 2018 at https://www.nia.nih.gov/health/obtaining-older-patients-medical-history.
- Herper M. Trump NIH Cuts Would Be 'Catastrophic Event,' Says Bush-Era NIH Chief. Forbes. Accessed March 10, 2018 at https://www.forbes.com/sites/matthewherper/2017/03/16/trump-nih-cuts-would-be-catastrophic-event-says-bush-era-nih-chief/#6fb31e44789c
- MD Anderson Cancer Center. Cancer Moonshots. Accessed March 10, 2018 at https://www.mdanderson.org/cancermoonshots.html