December 13, 2022

Mayo researchers streamline genetic testing in heart failure clinic, improve clinical care

By Colette Gallagher

In a new study published in Genetics in Medicine, Mayo Clinic researchers streamlined genetic testing and counseling for patients with dilated cardiomyopathy, a type of heart muscle disease that causes the heart chambers (ventricles) to thin and stretch, growing larger.

"We showed that this practice intervention increased the uptake and yield of genetic testing and counseling in our Heart Failure Clinic," says Naveen Pereira, M.D., a Mayo Clinic cardiologist and senior author of the study. "This may have a significant effect on the diagnosis of genetic dilated cardiomyopathy, improving clinical care for these patients and potentially the outcomes of their families. It is also a new evolution of the traditional Heart Failure Clinic model, adding to its repertoire of offerings to patients with heart failure."

Naveen Pereira, M.D.

Dr. Pereira notes that previously at Mayo Clinic, genetic testing and counseling were left to the health care professional's discretion. However, clinicians faced several barriers to referring patients for genetic counseling and testing. They included a lack of awareness of up-to-date guidelines, inconsistent family history assessment, lack of genetic knowledge, shortage of trained staff and limited availability of genetic counselors. All these barriers prevented the seamless integration of appointments with medical care.

The researchers sought to determine the feasibility and efficacy of introducing an automated electronic health record-based intervention. It included an opt-out genetic counseling/ testing order within the electronic health record for all new heart failure referrals, video genetic counseling and support from a heart failure clinic nurse. In this streamlined process, they saw an increase in appropriate referrals to genetic counseling and uptake of genetic testing in patients with dilated cardiomyopathy.

The implications of this study are multifold, explains Dr. Pereira:

  • The increased use of genetic testing can provide the patient with a molecular diagnosis, help diagnose rare diseases and inform prognosis.
  • If positive, genetic testing may help promote the rates of cardiac screening within families, especially in instances where pathogenic/likely pathogenic variants are identified.
  • Increasing genetic testing rates will allow clinicians and researchers to better understand the potential path of variants of unknown significance by performing segregation analyses, especially if family members are available.
  • There are growing clinical implications in identifying specific genotype-positive dilated cardiomyopathies to help determine specific therapy.
  • Clinical trials are in progress testing genotype-specific novel medical and gene-based therapies for this disease.

Dilated cardiomyopathy is one of the most common causes of heart failure, with an estimated prevalence of greater than 0.4% in the general population and accounting for nearly 36% of all heart failure diagnoses. It is also the most common indication for heart transplantation in the U.S.

"Given this disease's immense health care burden and available medical therapies for patients without symptoms, early detection and intervention are essential," says Dr. Pereira.

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Tags: center for individualized medicine, Genetic Testing, genetic testing, mayo clinic, medical research, Rare diseases

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