Patients reveal persistent gaps in genetic testing, diagnosis, and clinical trial access—and implications for advancing precision cardiomyopathy therapies.
SOUTH SAN FRANCISCO, CA, UNITED STATES, January 21, 2026 /EINPresswire.com/ — Genome Medical, a medical practice specializing in telehealth-enabled genetic services for rare diseases, today announced the release of a new white paper, Cardiomyopathy: The Voice of the Patient.
Inherited cardiomyopathies—hypertrophic, dilated, and arrhythmogenic—affect an estimated 1 in 250 to 1 in 500 individuals globally, yet most patients face substantial diagnostic challenges, inadequate symptom relief, and disconnection from the genetic testing and clinical trials that could transform their care. Genome Medical’s new white paper examines these challenges through the lens of the patient experience.
Survey results from Genome Medical’s nationwide cardiomyopathy cohort reveal unique patient-derived insights into real-world diagnostic challenges, unmet needs, and barriers to care. The white paper pairs those insights with peer-reviewed literature and outlines cross-sector opportunities to enable earlier diagnosis, family cascade screening, and genotype-informed care to become the standard rather than the exception.
“As a genetics care provider working directly with patients and families with cardiomyopathy, Genome Medical is uniquely positioned to elevate our patients’ voices,” said Jill Davies, Chief Executive Officer of Genome Medical. “By sharing these insights, we aim to help move the field forward and support everyone working to advance care for people living with this condition.”
The white paper explores several critical themes shaping the future of cardiomyopathy care and innovation, including:
• The gap between guidelines and reality: While experts recommend genetic testing for all appropriate patients, most never receive it—limiting diagnostic clarity and downstream care.
• The cost of delayed or missed diagnosis: Years lost to misdiagnosis or uncertainty affect not only patients and caregivers, but also health systems and research timelines.
• Ongoing symptom burden: Many patients continue to experience significant symptoms despite available therapies, underscoring the need for new treatment options.
• Barriers to clinical trial participation: The challenge is not lack of patient interest, but lack of awareness, access, and infrastructure to connect eligible patients with studies.
• The need for collaboration: Progress depends on stronger connections between patients, providers, advocacy organizations, and life science partners.
Cardiomyopathy: The Voice of the Patient is available now for download at GenomeMedical.com.
About Genome Medical
Genome Medical is transforming the landscape of rare disease care, bringing hope and answers to those navigating rare conditions. As the leading provider of telehealth-enabled genetic services, we bridge critical gaps in access, ensuring that individuals and families affected by rare conditions receive the expert guidance they need. Through timely genetic counseling, streamlined test ordering, clinical trial matching, and patient-reported insights, we accelerate diagnoses and connect patients with potential life-changing treatments. In collaboration with life science organizations, health systems, and genetic testing labs, we are ensuring every person with a rare disease has a clearer path to care, support, and breakthrough therapies. Learn more at GenomeMedical.com.
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