Note: this will be the first in a three-part series about addressing the new world of knowledge about genetic disorders. This first post will be about assessing the chances that we may be at risk for a genetic disease. Future posts will address what we can do with this knowledge.
We live in a relatively new era of medicine in which the genome is sequenced, and we are learning more each year about what genes do and how they might be related to disease. As physicians become more aware of the genetic links between patients and their diseases, patients can and should arm themselves with the knowledge they need to manage this new age of information.
I’d like to discuss a few hallmark features that might be present in your family history which could indicate a genetic disorder in your family. As with approaching the rest of your healthcare needs, knowledge is power!
When we look at your family history, we should look as far back into your history as you have reliable records, or at least first-hand accounts of your family member’s health. Try to include the medical history of your parents, and both sets of grandparents at least. Consider your family history, and ask the following questions:
1. Do you have a family history of genetic disorder?
Some people may already be aware of a genetic disorder that they have, or that a family member has. If you know of a genetic disorder in your family, then I would suggest that you discuss this with your doctor. He will need to know what the genetic disorder is, how the family member is affected by the disorder, and how they are related to you. The fact that a family member has a genetic disorder does not necessarily mean that it was passed to you!
2. Do any family members have any birth defects, or medical conditions that began at birth?
A person’s genes are determined immediately after fertilization of the egg with the sperm, before the mother can even know she is pregnant! Therefore, all of your genes were present when you were born, and some gene disorders will cause symptoms right away, or within the first few weeks of life. If this is the case, then hopefully that child is already being evaluated by a pediatrics team, who will have special training in infant and childhood genetic disorders. However, if your child has a medical condition which begins at or shortly after birth, I would always encourage you to ask your doctor whether they have considered the possibility of a genetic disorder. Also, you should always feel comfortable asking them for a meeting with a geneticist or genetics counselor.
3. Does anyone in your family have a connective tissue disorder?
Many connective tissue disorders are inherited genetically, and these disorders can cause a wide range of symptoms. Sometimes they can cause easy bruising or bleeding, cause bones to be very fragile and break easily, tendons and ligaments to be very loose, resulting in abnormal flexibility of the joints, or can cause problems with blood pressure. Suspicion for connective tissue disorders should arise if any of these symptoms are present, and especially if they get worse over time, or begin at a very young age.
4. Does anyone in your family have a history of autoimmune disorders, where the immune system attacks the body’s own tissues?
While most autoimmune disorders are not directly inheritable, there are certain genes which can make you more likely to develop an autoimmune disorder. For instance, a marker called HLA-B27 is associated with people who get various types of arthritis (joint pain) very easily, and perhaps at a younger age than normal. If this describes some members of your family, it might be worth getting tested for HLA-B27. If you have this genetic marker, you should be more prompt about discussing any new joint pain with your doctor. Treating that arthritis early can make the treatment much more effective, and can make your daily activities more comfortable, and have a long lasting effect at preserving your joint function!
5. Do you have a family history of cancer?
This is a big question, so let’s be honest… Most of us have some family history of cancer. This does not mean that cancer is always inherited, because the vast majority of the time, it isn’t. However, there are several types of family cancer syndromes, which can be passed through generations of a family. If you inherit the genes for one of these syndromes, it means that you have a greater risk for developing cancer than most other people. So let’s ask some more specific questions to determine your family’s risk.
6. Does everyone in your family seem to get the same kind of cancer?
For instance, if your great-grandfather, grandfather, and father all had colon cancer… that is suspicious, and you should discuss your risk with your doctor.
7. Or has every adult female in your family gotten breast cancer?
If so, you should discuss this with your gynecologist so they can help determine your risk.
8. Is there someone with cancer in every single generation of your family?
If so, perhaps your family is more genetically at risk for cancer, and you should discuss the specifics of this pattern with your doctor, or a geneticist. One other important question to ask, and that frequently gets forgotten:
9. At what age did the affected members of your family get cancer?
It is relatively common for people to have some brush with cancer at some point in their lives, but it’s typically when they’re older, and have had a long time to accumulate the various types of mutations that can cause cancer. Cancer in a younger person (less than 40 years old) could suggest that they have inherited a family cancer syndrome. That person should be evaluated by a skilled physician, and it might also be wise to do genetic testing.
Hopefully this gives you some ideas about the kinds of conditions that can be caused by genetic mutations, and inherited through a family. To provide a complete list of all of the symptoms or conditions that genetic mutations could cause would be impossible, because scientists haven’t even discovered all of the possible mutations that could exist, in fact, we aren’t even close.
The human genome contains more than 6.4 billion base pairs, and more than 20,000 genes. We aren’t even sure what many of these genes are for. If you have any suspicion that a genetic mutation may run in your family, the best person to discuss this with is your doctor. However, if you would like to have an additional review by our community of medical detectives, we would be more than happy to discuss your family history with you and provide some feedback!
This post was written by Dan Derbes, one of CrowdMed’s highest-rated Medical Detectives as well as a CrowdMed Ambassador.
Are you worried that you may be suffering from an undiagnosed disorder? CrowdMed can help.