Genome Medical

Among our surveyed patients with hereditary ATTR amyloidosis, 𝟱𝟱% report a year or more between first symptoms and diagnosis. And only 𝟮𝟬% had all first-degree relatives tested. Non-invasive imaging and rising clinician awareness have made ATTR easier to identify than ever before. So why do gaps like these persist for patients and their at-risk family members? These are two of several critical issues we unpack in our upcoming Hereditary ATTR Amyloidosis: Voice of the Patient white paper, coming out in August. Follow along with us for the release next month. #ATTR #ATTRv #Amyloidosis #VoiceOfThePatient

Among our surveyed patients with hereditary ATTR amyloidosis, 𝟴𝟯% of those with symptoms reported taking at least one disease-modifying treatment — and a third of those combine therapies. As more patients start therapy earlier and combine treatments, the disease looks different in trials than it used to. This is one of several topics we explore in our Hereditary ATTR Amyloidosis: Voice of the Patient white paper, coming out in August — including what it means for how ATTR trials are designed and who they need to reach. Follow along with us for the release next week. #ATTR #ATTRv #Amyloidosis #VoiceOfThePatient #ClinicalTrials

Today we're releasing Inherited Retinal Diseases: Voice of the Patient, the third white paper in our Voice of the Patient series. This white paper combines patient insights with peer-reviewed literature to highlight critical gaps and opportunities in IRD care with implications for clinical research, drug development, and patient access to emerging therapies. The white paper explores: ▪ Diagnostic challenges and genetic testing gaps ▪ Disease burden beyond visual acuity ▪ Patient interest in and awareness of gene therapies 📄 Download the white paper: https://lnkd.in/gY9sZT7s Thanks to our patients and families who shared their experiences. We are grateful for the opportunity to elevate their voices. #InheritedRetinalDisease #IRD #RareDisease #PatientVoice

Even patients who have preserved visual acuity report an average of 3+ concurrent vision symptoms — and that's just one of the insights from our new Inherited Retinal Diseases: Voice of the Patient white paper. Despite meeting clinical thresholds for adequate vision, patients with inherited retinal diseases (IRDs) reported functional limitations across every domain of daily life. This report highlights key themes reported by patients and families with IRD, and what they mean for patient care and precision therapies. 📄 Download the white paper: https://lnkd.in/gY9sZT7s

Genetic testing is the gateway to precision medicine for inherited retinal diseases (IRDs), yet nearly half of our surveyed patients waited more than 5 years to get it. The majority of reported barriers are navigational and financial, not motivational. 📄 Download the white paper for more patient-reported insights on unmet needs and opportunities for IRD care: https://lnkd.in/gY9sZT7s

We’re pleased to release Inherited Retinal Diseases: Voice of the Patient—a new white paper featuring insights from our nationwide cohort of patients with inherited retinal diseases. This white paper combines patient insights with peer-reviewed literature to highlight critical gaps and opportunities in IRD care with implications for clinical research, drug development, and patient access to emerging therapies. The white paper explores: ▪ Diagnostic challenges and genetic testing gaps ▪ Disease burden beyond visual acuity ▪ Patient interest in and awareness of gene therapies 📄 Download the white paper: https://lnkd.in/gY9sZT7s