Although advances in genetic testing have led to a better understanding of a variety of inherited cardiovascular diseases, not all cardiologists are aware of the benefits and risks of incorporating genetic test results into the clinic.
To deepen their understanding, the American Heart Association issued its first scientific statement, citing current best practices for genetic testing and strong genetic factors such as cardiomyopathy, arrhythmia disorders, and thoracic aortic aneurysms and anatomy. It summarizes the impact on the management of cardiovascular disease. Familial hypercholesterolemia..
“This is a resource for cardiologists and cardiovascular providers who need to know more about genetics as it is becoming a part of their daily routine and increases over time,” Kiran Musnur. The Doctor of Medicine is chairing the session. The Perelman School of Medicine writing group at the University of Pennsylvania Philadelphia and a professor of cardiovascular medicine and genetics theheart.org | Medscape Cardiology..
“So the goal is to inform, educate, and assist clinicians who are not so new to genetics, as genetics is not so new, and to point you to more in-depth resources. “
The statement is Release Nowadays Circulation: Genomic and Precision Medicine, And available here..
Knowing that a patient has a genetic mutation in a particular cardiovascular disease can affect how physicians manage the patient, and can affect relatives, Musunur said. “Testing for and finding mutations may be an important clue for early detection of the disease, and will probably stop bad symptoms before they occur.”
This document highlights the importance of genetic experts, the proper use of genetic testing, and how to select patients with a high suspicion or clinical diagnosis of hereditary cardiovascular disease.
Musunuru says that genetic testing has seen explosive growth in both the clinical setting and direct consumer testing in the last few years, but its use in heart disease should be reserved for certain patients. I emphasized.
“If the patient has a phenotype consistent with one of these genetic disorders and very high cholesterol levels or structural heart disease, cardiomyopathy, abnormal rhythm disorders, thoracic aortic disorders, etc. It should be awakened,” he said. “Some of them are spontaneous and some are less related to genetics, but many of these cases are clearly caused by genetics. It’s important not to start genetic testing for all patients on a daily basis.”
Cardiologists should ideally have a family history of three generations ago to determine if there is a pattern of hereditary CVD.
“We don’t always look at three generations and make extra efforts to ask about grandparents, uncles, and aunts,” Musunuru said. “But if you do this very carefully and in great detail, you can see that what is affecting the patient in front of you is affecting a significant number of families, It raises the suspicion that there is.”
Genetic counseling is essential prior to genetic testing, ensuring that patients understand not only the benefits, but also the risks and uncertainties associated with the test. But Musnur said this could be difficult, especially in rural areas, due to the lack of trained genetic experts.
He suggested that telemedicine is a promising option that could make genetic counseling more accessible. “Today, there’s a lot of excitement about telemedicine, especially with COVID-19. Genetic counselors don’t have to be in the same room as the patient. They do the tests, talk about the heart, We haven’t done any clinical trials. Telemedicine is a way to advise patients and explain the benefits and harms before doing a test.”
When a genetic variation is identified, all first-degree relatives should consider genetic testing and counseling for that particular mutation, if possible. Due to privacy laws, it is up to the patient to tell the family the news, but health care professionals can provide written letters explaining the genetic findings that the patient can give to the family.
Things I don’t know yet
The test results may confirm the diagnosis of hereditary cardiovascular disease, but they may also be inconclusive.
“I’m very good at reading the genome. Unfortunately, I’m not very good at understanding and interpreting genetics,” Musunuru says.
Mutations are often classified as uninterpretable or unknown significance (VUS) variants. It can be pathological or benign, and uncertainty can pose a real dilemma for clinicians. Musunuru observed that there were cases of improperly implanted defibrillators, fearing that the clinician later found a benign mutation suspected of being an arrhythmia.
“So genetic testing can be like opening a can of a worm,” he said. “That’s why part of the statement’s intent is not to provide accurate recommendations, but to alert doctors to the fact that there is uncertainty associated with genetic testing. Whether something is pathogenic. Inevitably knows, but helps keep providers away from irreversible decisions that they may regret later.”
In addition, the complete spectrum of genes responsible for various hereditary cardiovascular diseases has not yet been revealed, according to Musnur.
“We are still in discovery mode and research is ongoing,” he added. “As genetic testing evolves, reliable classification of genetically identified variants remains a challenge for clinical genetics practice.”
Musunuru has not reported any relevant financial relationships.
Circ Genom Precis Med. 2020; 13: e000067. Overview
