What is genetic testing?
Genetic testing analyzes your DNA for inherited genetic alterations. These alterations could increase your risk—or your children’s risk—of developing a disease, such as coronary artery disease, aortic aneurysms, cardiomyopathy, arrhythmias and others.
Also, for those patients with congenital heart defects or vascular disease, if you are considering starting a family, genetic testing might help you learn more about your chance to have a child with the same condition you have.
Genetic testing usually begins by meeting with a genetic counselor or medical geneticist physician. Genetic counselors and geneticists are healthcare professionals with expertise and specialized training in genetics. Your genetic counseling session will include:
- Review and documentation of medical and family history
- Directed physical examination
- Explanation of basic genetic and medical concepts
- Discussion of relevant hereditary syndromes and their associated risks
- Individualized risk assessment
- Personal screening recommendations
- Referrals to other medical specialists as needed, including high-risk screening programs
- Discussion of the risks, benefits and limitations of genetic testing
- Blood work for genetic testing when indicated
Ohio State has multiple clinics that can evaluate you if you have a heart condition that you think may be genetic or if you have a family history of heart disease that concerns you. There are many reasons to be referred to one of these clinics. Some specific examples include:
- Familial aneurysms
- Isolated, early-onset aneurysms
- Familial cardiomyopathies
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy/dysplasia
- Restrictive cardiomyopathy
- Familial hypercholesterolemia (inherited levels of very high cholesterol)
- Inherited arrhythmia disorders (dysrhythmias)
- Long QT syndrome
- Brugada syndrome
- Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD)
- Catecholaminergic polymorphic ventricular tachycardia (CPVT)
- Familial atrial fibrillation
- Short QT syndrome
- Family history of sudden cardiac death
- Any form of atherosclerosis (hardening of the arteries) at a relatively young age (under age 55 in men, under age 65 in women).
- A family history of early-onset atherosclerosis in one or more close relatives, including parents, siblings, children, aunts, uncles or grandparents
- Congenital heart defects
Congenital Heart Disease
There are multiple causes of congenital heart disease, also known as “heart defects:”
- Genetic Syndrome: Sometimes congenital heart defect patients have specific genetic conditions that often include other health problems. It is possible that you are unaware of these conditions, giving your children a higher chance of a more serious health problem.
- Single Gene: Congenital heart defects are rarely caused by changes in a single gene; however, it can happen. This is usually the case when more than one person in a family has a heart defect.
- Environmental: If your mother was exposed to something like an infection or medication during her pregnancy, there is a chance it caused your heart defect. Your children will have no higher chance of a heart defect than an average person.
- Unknown cause: Most heart defects are a combination of multiple genetic and environmental factors. The odds of having a child with a heart defect depend on what type of defect you have and if anyone else in your family has a heart defect.
Knowing your family health history can provide important information about your own health risks. Ohio State’s Richard M. Ross Heart Hospital and our Division of Human Genetics encourage you to talk to your family members about their health histories. You can create a heart health family tree that you and your doctor can use today—and the next generation of your family can use tomorrow. Also, we have created a free online assessment tool—Family Healthlink—that allows you to enter your family medical history. This online program helps determine your risk for cancer and coronary heart disease. The survey only takes 10-15 minutes to complete, and provides a personalized risk assessment form that can be printed and given to your physician for discussion.
It is important to remember that:
- Genetic testing will not find all hereditary conditions
- People without certain gene changes can still develop heart disease, cancer or other conditions
- Not everyone needs genetic testing
What to expect during genetic testing
Preparing for your procedure
It is important to bring as much medical history and family history information as possible to your genetic counseling appointment to assist the counselor in making the best possible assessment. If you are concerned about the risk to future children for congenital heart disease, specialized testing such as a fetal echocardiogram might be possible during your pregnancy.
During your procedure
Your genetic counselor will review your medical history and your family’s medical history. A physician will perform a physical on you, and blood will be drawn for genetic testing, when available and appropriate. Your genetic counselor will address any concerns you may have.
After your procedure
Your genetic counselor and physician will discuss the results of your genetic test with you. A screening, prevention and treatment plan will be determined and shared with your physicians if you would like. For female patients who would like to have children, this also includes a prenatal care plan for you and your baby when you become pregnant.