Genome Medical Publishes New White Paper Revealing Critical Gaps in Hereditary ATTR Amyloidosis Diagnosis, Genetic Testing, and Trial Access

SOUTH SAN FRANCISCO, Calif. — August 5, 2026 — Genome Medical today announced the release of a new white paper, “Hereditary ATTR Amyloidosis: Voice of the Patient.” The report combines original survey findings from a nationwide cohort of patients with hereditary transthyretin amyloidosis (ATTRv) and peer-reviewed literature to illuminate where care has advanced and where patients and families are still being left behind.

Hereditary ATTR amyloidosis is a progressive, multi-system disease caused by pathogenic variants in the TTR gene, leading to a buildup of misfolded protein in the heart, nerves, and other organs. Over the past decade, the field has made remarkable strides: a non-invasive imaging pathway has replaced the need for heart biopsy, and multiple disease-modifying therapies are now approved. Yet many patients remain undiagnosed, untested, and disconnected from research — disparities this white paper aims to quantify and address.

The white paper examines four defining themes shaping hereditary ATTR care today:

The Diagnostic Journey. Despite improved non-invasive diagnostics and rising clinician awareness, diagnostic delays remain widespread. Surveyed patients reported seeing multiple providers over an extended period before receiving an answer — a pattern consistent with published literature and real-world claims data.

The Testing Gap. Genetic testing is now guideline-recommended for all ATTR patients, yet real-world testing rates remain critically low. The paper examines barriers facing both diagnosed patients and their at-risk relatives. It also highlights historically underserved populations — including Black Americans, among whom the most common hereditary TTR variant in the U.S. is disproportionately prevalent.

A New Era of Treatment. Approved stabilizers and silencers have transformed the patient outlook, and next-generation approaches including depleters and in vivo gene editing are advancing in the pipeline. The paper explores what patients actually want from emerging therapies and the access barriers that continue to stand between life-changing treatments and the people who need them.

Trials at an Inflection Point. Earlier diagnosis and widespread treatment uptake are reshaping the clinical trial landscape in ways that demand new approaches to study design and patient recruitment. The paper explores the gap between patient willingness to participate in research and the systems needed to act on it.

“Hereditary transthyretin amyloidosis is a disease where scientific progress has been truly remarkable — but too many patients are still waiting years for a diagnosis, experience barriers to accessing therapies and trials, and have family members who don’t know they’re at risk,” said Jill Davies, Chief Executive Officer of Genome Medical. “This white paper reflects what we hear directly from patients every day, and what the data confirm: the gap between medical progress and patient experience is real and addressable. We hope these insights help biopharma, health systems, and researchers build more effective, equitable pathways — from earlier identification and genetic testing to trial enrollment and therapy access.”

The report identifies practical opportunities across the healthcare ecosystem to narrow these gaps, including:

• Expanding access to genetics care and cascade testing programs to reach at-risk family members
• Leveraging telehealth-enabled genetic services to connect patients to care
• Designing clinical trials with endpoints that capture multi-system disease burden, since many patients experience a combination of cardiac, neurological and autonomic symptoms.
• Developing innovative trial recruitment strategies that extend nationally beyond specialty centers to reach the full at-risk population

The white paper is the latest in Genome Medical’s Voice of the Patient series, which utilizes the company’s unique position as a nationwide telehealth genetic services practice to elevate insights from genetically characterized patient populations across rare disease areas. Genome Medical sincerely thanks the patients and families who shared their experiences to make the white paper possible.

Download the full white paper: Hereditary ATTR Amyloidosis: Voice of the Patient

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 recruitment 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 www.genomemedical.com.

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