Genetic tests are now available for many conditions -- everything from Alzheimer's disease to familial hypercholesterolemia. But genetic testing isn't necessarily the best option for everyone, and some of the tests aren't highly accurate yet.
However, clinicians agree that genetic testing is important for people with hereditary heart conditions in their families. That's why Stanford created the Stanford Center for Inherited Cardiovascular Disease, which specializes in caring for patients and their families with genetic disorders of the heart and blood vessels. Genetic counseling is a key part of the center, so I spoke with Colleen Caleshu, MSc, their lead genetic counselor to learn more.
What inspired you to become a genetic counselor?
When I was in college, I was very interested in the science and molecular basis of disease. I was considering a PhD in genetics, but I was also drawn to peer counseling and psychology courses. When I looked at genetic counseling programs, they required an unusual combination of science and humanities such as psychology, ethics, genetics and biochemistry. Before going to graduate school, I spent a year with a research team that focuses on the psychological impact of familial breast cancer risk -- that experience solidified that genetic counseling was what I wanted to do. For me, it comes down to a combination of loving the science and being intellectually challenged by a field that is moving really quickly, while also really being able to help people.
What cardiovascular diseases does genetic testing identify?
Genetic testing isn't yet useful for all diseases or for all people. For cardiology, we recommend genetic testing when a patient is diagnosed with an inherited disease. The two most common inherited cardiac diseases are familial hypercholesterolemia and hypertrophic cardiomyopathy. We also care for patients with several other inherited heart muscle, arrhythmia and aorta diseases. If you put all of these genetic cardiac diseases together, greater than one in a 100 people have one in their genes.
What is a typical genetic counseling appointment like?
The clinic appointment is about an hour long. It involves establishing a relationship with the patient and their family to understand: Who are they? What are they experiencing? What are their values? What do they most need help with right now? Then we often shift to the medical side of things with a comprehensive four-generation family history. This involves a lot of detective work with the patient and afterwards -- calling family members and searching medical records, death certificates and autopsy reports. The rest of the visit is a mixture of medical and genetics education, as well as psychological counseling. All medical conditions can have a psychological impact, but the genetic nature of these diseases mean they can strike healthy people at an unusually early age compared to most heart diseases. And they have reproductive and family planning implications.
Our genetic counselors also function within a broader, multidisciplinary team, including a cardiologist who gives his assessment, diagnosis and management recommendations. And all of this is based on a separate, hour-long intake appointment with a nurse that happens prior to the clinic appointment.
How can genetic counseling help?
Genetic counseling definitely benefits both the patient and the patient's family -- by helping them cope better with the familial heart condition and by helping healthy family members get the necessary medical workup and tests.
For example, a patient came to us a few years ago after being diagnosed with hypertrophic cardiomyopathy. Several generations of his family had the disease, and two of his siblings died suddenly from it a few years apart. He was really wrestling with whether or not to get an implanted defibrillator. He came to our center to get everything we offer.
We had several visits with him and his family members. At one point we had more than 10 family members in the room -- the patient, siblings, nieces and nephews -- grappling with a lot of pain and grief. We provided grief counseling and we addressed what it meant medically and psychologically for each family member. Using genetic testing, we were able to identify a disease-causing genetic variant in the original patient and his family. By proactively checking the heart of other family members, we were also able to diagnose people who didn't know they had the disease -- including members who went on to get implanted defibrillators to protect them from sudden death. Genetic counseling can absolutely save lives.
Previously: At new Stanford center, revealing dangerous secrets of the heart, Finding the right doctor and learning to live with a progressive genetic disorder -- as a family and "The uncertainty was killing me": A student's tale of genetic testing for Huntington's disease
Illustration by waldryano