Genomic science can help healthcare professionals to identify, treat inherited cardiac conditions

The family history questions asked during patient assessments are becoming even more important with the rise of precision medicine and genetic testing.

The answers may provide clues to inherited conditions, help diagnose underlying genetic abnormalities and guide cascade screening of family members who also may be at risk.

An article in AACN Advanced Critical Care explores how healthcare professionals can use genomic science to identify and counsel patients at risk for inherited disorders that are common causes for sudden cardiac death.

By identifying an underlying genetic variant in a patient or family, clinicians can provide more personalized recommendations. Based on the clinical and genetic findings, family history and what is known to date in the literature, specific therapies – such as medications, implantable cardioverter defibrillators and the avoidance of certain triggers – can be recommended, which could avert a serious arrhythmia.

"Nurses and other healthcare professionals must be able to recognize red flags within the family history and detect abnormal waveforms on ECGs to better facilitate appropriate referrals and diagnostic evaluation, which may include genetic testing," said lead author Kathleen Hickey, FNP-BC, ANP-BC, EdD, professor of nursing, Columbia University Medical Center, New York. "Genetic testing can play an important role in properly diagnosing or guiding care in an ambiguous clinical presentation."

Genetic variations can affect the potassium, sodium and calcium channels, resulting in ionic changes across the cardiac membrane that may lead to arrhythmias and sudden death. The cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies.

The journal article "Cardiac Channelopathies: Recognition, Treatment, Management" discusses the current state of the science of genetic testing, disease identification and treatment, and management and counseling of patients with monogenic cardiac disorders.

The article includes several examples of electrocardiogram waves that show the distinctive characteristics of the most common cardiac disorders with known genetic associations. In addition to long QT syndrome and short QT syndrome, the article discusses Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

The article is part of a symposium, published in the spring 2018 issue of the peer-reviewed journal, that explores the current state of genomics medicine as it relates to various diseases. Other articles address:

  • Pharmacogenomics and its use in the intensive care unit
  • Genomic science behind brain injury, brain trauma and various neurological disorders
  • Genomic science within pulmonary medicine, including lung cancer and other disorders that have been the focus of genetic research

Christine Kessler, MN, ANP-C, CNS, BC-ADM, FAANP, endocrinology nurse practitioner and founder of Metabolic Medicine Associates, in King George, Virginia, served as editor for the symposium.

"Genomics promises to revolutionize medicine and healthcare, with a highly individualized approach to disease prevention and treatment," she said. "Precision medicine will soon make the current generic approach to care a relic of the past."

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