Ask a GC: Family Health Histories (Chapter 3)

Series Overview: Doctors usually turn to genetic testing to screen for health risks or spot diseases that are hard to diagnose, but the available education surrounding what these tests actually do is often bogged down with confusing scientific language that makes it difficult to understand. This is where Genetic Counselors (GC) come in to provide personalized assistance to both patients and their families. My name is Elizabeth and I have a Masters degree in Human Genetics & Genetic Counseling, which means that I spent 2.5 years after 4 years of college learning how to become a translator of the alphabet soup that is Genetics and explain it in a way that makes sense to everyone. If you are here reading this blog you may be dealing with some health complications that do not have a known cause, your doctor may have suggested genetic testing and/or counseling to learn more about your risk factors for disease or symptoms your body is showing, or you may just be curious about this type of testing in general. Ask a GC is a blog series that aims to empower patients (like you!) to know WHO to ask, WHAT to ask, WHEN to ask it, and WHERE to find answers about your Genetics questions and how they play into your healthcare journey. As a Genetic Counselor who has seen all types of genetic disease both professionally and personally, I aim to bring you this information with compassion and understanding as you navigate the interesting but sometimes overwhelming world of Genetics!

Please note: Though GenomicMD's Ask a GC series is written under the guidance of healthcare professionals and may refer to recent medical recommendations, it is not intended to be used as personalized medical advice. For medical evaluation or to develop a healthcare plan, please speak with your doctor or healthcare provider.

Welcome back to Ask a GC – an ongoing blog series by GenomicMD designed to help patients (like you!) feel more informed and empowered by genetic information, with the guidance of our Genetic Counselor. In our last 2 blog posts we discussed how to talk to your relatives about both your family health history and genetic test results - two things that are under emphasized but so important. This chapter is dedicated to suggestions designed to help you ACT on this information if you find yourself learning about common inherited diseases that run in your family. Keep in mind that the suggestions found in this post are meant to be discussed with a genetic counselor or other healthcare expert, who can give you more personalized recommendations about who in your family should consider these (or other) options, and when. 

Learning about your family health history can be a powerful motivator towards taking steps to lower your chances of developing many diseases or conditions. Below are some options you may consider to help guide conversations with your healthcare provider about commonly screened for conditions.

• Heart disease: If you have a family health history of heart disease, you can take steps to lower your chances of personally developing it. For example, if you or a family member has LDL cholesterol levels over 190 mg/dL (or over 160 mg/dL in children), you can talk to your doctor about getting checked for familial hypercholesterolemia (FH), especially if you have a family health history of early heart disease or heart attacks. If you have FH or other types of heart disease, you might need to take additional steps (such as medication or additional monitoring) to maintain your health. 
  
  
• Diabetes: If your mother, father, brother, or sister has type 2 diabetes, you and your other family members could have prediabetes and are also more likely to develop type 2 diabetes. There are important steps you and your children can take to prevent type 2 diabetes and reverse prediabetes if you have it. There are tests available to help you find out if you or your family members could have prediabetes. Find out more about the National Diabetes Prevention Program’s lifestyle change program and how to find a program near you. 
  
  
• Prostate Cancer: If you are an individual assigned male at birth and you have a father, brother, or son who has had prostate cancer, talk with your doctor about the age at which they recommend you start prostate cancer screening, as well as the frequency and type of screening. If you have a family history of multiple relatives with prostate cancer, relatives who have had metastatic prostate cancer, and/or a family history of breast, ovarian, and/or pancreatic cancer as well as prostate cancer, your doctor may recommend you meet with a genetic counselor to discuss whether genetic testing is indicated.
  
  
• Chronic Kidney Disease (CKD): Kidney disease can more heavily affect certain families, so understanding the risk factors for kidney disease can potentially prevent it from developing. These risk factors increase the risk for kidney disease: high blood pressure (1), heart disease (2), diabetes (3), and being overweight or obese (4). (1) High blood pressure is a major cause of kidney disease, but may be able to be controlled with health lifestyle choices and medicines. (2) Your heart and kidneys work together to keep you healthy. Your heart can affect the health of your kidneys, and your kidneys can affect the health of your heart. A healthy lifestyle and treatments can help control heart disease. (3) Diabetes is a major cause of kidney disease and may be controlled with healthy lifestyle choices and medicines. (4) If you are overweight or obese there is a greater chance of developing diabetes or blood pressure, which are the leading causes of kidney disease and kidney failure. 
  
  
• Colorectal (colon) cancer: If you have a mother, father, sister, brother, or other close family member who had colorectal cancer before age 50 or have multiple close family members with colorectal cancer, talk to your doctor about whether you should have screening starting at a younger age, more frequently, and what method of screening is most appropriate for you. In some cases, your doctor may recommend that you have genetic counseling, and a genetic counselor may recommend genetic testing based on your family health history. 
  
  
• Breast or ovarian cancer: If you have a parent, sibling, or child with breast cancer, talk to your doctor about when you should start mammography screening and perhaps other types of breast screening (such as ultrasound or MRI). If your relative was diagnosed with breast cancer before age 50, if you have a close relative with ovarian cancer, or if you have a male relative with breast cancer, your doctor might refer you for cancer genetic counseling to find out if genetic testing is right for you. Note on ovarian cancer: patients often confuse this with uterine or endometrial cancer - make sure to clarify! 
  
  
• Osteoporosis: This is a medical condition where bones become weak and are more likely to break. A family health history of osteoporosis is one of a number of factors that make you more likely to develop it. You can talk to your doctor about lifestyle changes you can consider to reduce your risk. 
  
  
• Hereditary Hemochromatosis: A disorder in which the body can build up too much iron and in rare cases can lead to serious liver damage and other problems if it is not caught early. It is also super common in certain populations to be a carrier or mildly affected. If you have a sibling or other close relative with hemochromatosis, you may be more likely to develop the condition yourself or pass it on to your children. It can usually be diagnosed easily via a blood test (sometimes genetic testing), and typically treatment involves giving blood occasionally. Because of this, a lot of patients with this condition see it as an unexpected way to give back to their community! 

These are just some examples of conditions that we sometimes see “running” in families. However, there are many others that are possible and could have a genetic component or perhaps involve a very manageable lifestyle change. My usual advice is that if multiple people in your family have had the same condition or your relatives have developed a condition at a particularly young age (for chronic conditions, under age 50 is a good rule of thumb), it is worthwhile to bring it up with a healthcare provider. The “worst” they can say is that it’s nothing to worry about - which is usually not a bad thing at all! 

Disclaimer: GenomicMD’s Genetic Counselors do not provide diagnoses or personal medical advice. Please see your healthcare provider for these needs. Additionally, the above recommendations may change over time as guidelines are updated. Please check with your healthcare provider about the most up-to-date recommendations. 

Blog Glossary:

Colorectal (colon) cancer - A cancer of the colon or rectum, located at the bottom of the digestive tract’s lower end

Breast cancer - A cancer that forms in the cells of the breasts 

Ovarian cancer - A cancer that begins in the female organs that produce eggs (ovaries) 

Heart disease - Conditions that include diseased vessels, structural problems, and blood clots of the heart 

Familial hypercholesterolemia - A genetic disorder where you may have exceptionally high levels of cholesterol in your blood, which increases the likelihood of having coronary heart disease at a younger age

Osteoporosis - A condition in which bones become weak and brittle

Hereditary Hemochromatosis - A genetic condition that causes iron overload in the body which can sometimes lead to health problems such as severe liver disease if not treated