糖心传媒

An interview with Euan Ashley, MD, PhD, Director, Stanford Center for Inherited Cardiovascular Disease

By applying genomics to medicine, the is helping patients and families with genetic risk of heart disease manage their condition and their health. , MD, PhD, professor of medicine at Stanford University and founding director of the Stanford Center for Inherited Cardiovascular Disease, works with colleagues to diagnose and treat entire families who are at risk for life-threatening heart abnormalities using genetic sequencing.

Dr. Ashley, how are you and your team using genetic sequencing in patients with cardiovascular disease?

There are a couple of ways we use genomics. Over the last few years we have increasingly applied what we call 鈥渘ext-generation genetic sequencing鈥� to inherited cardiovascular diseases. These are diseases that can cause sudden death or heart failure. When you hear of young athletes who suddenly and unexpectedly pass away, they often have one of these diseases. Their heart muscle may be too thick or weak or there might be something wrong with their heart rhythm. We also see families who are genetically predisposed to very high cholesterol levels or who have enlargement of their major blood vessels. We鈥檙e routinely using sequencing of the genes known to cause those diseases since, not only can it help diagnose the condition, but it can be used to screen other family members. In addition, in some conditions, the data that emerges from genetic sequencing can help us define and personalize therapies.

Why do you sequence other family members鈥� genomes and not just the patient鈥檚?

Some types of heart disorders and diseases clearly run in families, so if one person is diagnosed there might be a 50 percent chance a close family member would also be affected and not know about it. In our center, we don鈥檛 think about treating a single patient but rather about taking care of a whole family. In fact, we are among a small number of health centers in the nation with integrated care for families with inherited cardiovascular disease under one roof. We have cardiologists, pediatricians, specialized nurses, psychologists, and genetic counselors working together to support patients of all ages.

You鈥檙e also working on rare and undiagnosed diseases. How are you using this approach for those patients?

Patients with rare and undiagnosed diseases often find themselves on what we call a medical odyssey. They have unusual symptoms and go from one doctor to another, accumulating a large amount of emotional and, in many cases, financial pain without any major insight into their disease. They often have measurements that are clearly abnormal but the pattern doesn鈥檛 fit any known disease. Indeed, the torment of an undiagnosed disease is particularly severe. Because in addition to the symptoms and signs that any patient has to deal with, they also deal with the torment of not knowing what this is, not having a label to tell their friends or relatives, not having a group of patients with a similar condition to share and bond with. Sometimes they receive skeptical glances because a whole series of doctors don鈥檛 know what this is. Being undiagnosed is a particularly severe form of torment. For these patients 鈥� the ones with very abnormal measurements 鈥� we can use the power of genome sequencing to look for genetic causes across the whole genome. Often, we will sequence the genomes of an entire family to help make the correct diagnosis. With experts on hand at Stanford and with the use of these new technologies, we can solve 30 percent of cases. Sometimes, we can even direct the family to a specific treatment.

If you could look into the future, 15, 20 years from now, what do you think care for patients with cardiovascular or rare diseases will look like?

I think in 10 years, genomics will be fully integrated into the care of patients, just as we use computers or x-rays or MRIs now. Conducting genetic sequencing will become routine, at least at academic medical centers. For rare diseases, we already routinely use whole-genome genetic data but soon this technology will expand to touch every patient in our health care system. We will be able to look at a patient鈥檚 individual biology and decide on the right drug at the right time for them. This is sometimes called personalized or precision medicine. At 糖心传媒, we also aim to use this technology to help patients before they even become patients 鈥� to help prevent disease. This, we call precision health. And precision health reaches beyond genomics into digital health. We are beginning to work out how to use modern technology such as smart phones, smart watches, and other sensors to help define what is normal for the individual and to help people take preventive action early, even before they have any outward signs of disease. This is an exciting future and here at 糖心传媒 we are in the perfect place to pioneer these approaches for our patients.

What鈥檚 your recommendation for those with suspected inherited heart disease or their family members?

My first recommendation is to discuss the heart issues with your primary care physician. The physician can then evaluate whether further testing is necessary. I would also recommend visiting our center鈥檚 website at familyheart.stanford.edu.