Conference Coverage

Genetic Testing Reaches Only 60% of ATTR-CM Patients, With Tests Declining With Age

Edited by:
Brian McCurdy

Key Highlights

  • Only 99 of 164 patients underwent genetic testing, with completion ranging from 100% at ages 50–59 to 17% at ages 90–99.
  • Pathogenic TTR variants were identified in 27 tested patients, representing 16.5% of the overall cohort.
  • Among tested patients, variants were found in 95% of Black patients versus 8% of White patients.
  • More than 60% of untested patients had no clearly documented reason for not completing testing.

Genetic testing was completed in only 60% of patients with transthyretin cardiac amyloidosis (ATTR-CM) receiving disease-modifying therapy at M Health Fairview, according to a single-center retrospective study. Testing decreased significantly with age. The authors presented the findings at the 2026 American Heart Association meeting.

Investigators from the University of Minnesota evaluated testing rates and associated patient characteristics. They noted that genetic testing distinguishes wild-type from hereditary ATTR-CM, with implications for disease-modifying treatment and screening of at-risk relatives. The study examined whether testing remained underutilized despite recommendations to test all patients with ATTR-CM.

Researchers reviewed electronic medical records of patients treated at M Health Fairview between 2019 and 2026 who had been prescribed disease-modifying therapy. They collected demographic information, established genetic testing status, and identified documented barriers to testing. Statistical analyses used Fisher’s exact test and multivariable logistic regression.

Study Findings

Among 164 patients, 99 (60%) underwent genetic testing. Completion declined from 100% among those aged 50–59 years to 17% among those aged 90–99 years (P < .0001). Women and Black patients had higher testing completion rates, but these differences were not statistically significant. Among the 65 patients who did not undergo testing, documented barriers included logistical challenges in 14%, death before testing in 11%, and perceived low clinical value in 5%. More than 60% had no documented reason.

Of the 99 tested patients, 27 (27.3%) had a pathogenic TTR mutation, corresponding to 16.5% of the full cohort. Among tested patients, TTR variants were identified in 95% of Black patients versus 8% of White patients (P < .0001). Younger age was associated with positive genetic screening in multivariable analysis, with an odds ratio of 0.83 per additional year of age (P < .001). Sex was not associated with a positive result.

Clinical Implications

According to the authors, declining testing rates with age suggest undertesting of older patients. They concluded that failure to implement routine testing may miss opportunities to identify hereditary ATTR and screen at-risk relatives, particularly given the pathogenic variants identified among Black patients.

Expert Commentary

“Genetic testing remains underutilized in patients with ATTR-CM despite guideline recommendations, with only 60% of patients undergoing testing in this cohort,” the researchers concluded.

Reference

Selland A, Phipps AP, Patole N, Maharaj V. Underutilization of genetic testing in transthyretin cardiac amyloidosis. Abstract MDP2834. Abstract presented at: American Heart Association 2026; November 9, 2026.