Advance Genomic Medicine Phenotype Algorithm Summary

Condition	Definition	Positive Predictive Value (PPV %)	Start date for algorithm development	Number of patients identified
Pheochromocytoma	At least 2 qualifying encounters with ICD-10 code C75.4, C75.5, D35.6, D44.6, or D44.7. At least 1 of the ICD-10 code encounters took place in the last 3 years. Patients with cancer-specific genetic testing were excluded. At least 2 qualifying encounters with ICD-10 code C74.9 or D35.0 plus an elevated lab or record of medication prescription (Dibenzyline or Phenoxybenzamine). At least 1 of the ICD-10 code encounters took place in the last 3 years. Patients with cancer-specific genetic testing were excluded.	93%	Dec-2022	173
Paraganglioma	with cardiology specialist with I42* in the last 3 years. Patients with history of HFpEF (ICD-10 I50.30) or CAD (ICD-10 I25.1) were excluded.	100%	Dec-2022	94
Non-ischemic Cardiomyopathy			Jul-2023	3749
Arrhythmogenic Cardiomyopathy	At least 1 encounter with ICD-10 code I42.8 in the last 3 years, or a family history of sudden cardiac death, or personal history of early pacemaker placement (< 50YO). Patients with a history of CAD (ICD-10 I25.1), Ischemic cardiomyopathy (ICD-10 I25.5), or HFpEF (ICD-10 I50.30) were excluded.		Jul-2023	2009
Long QT Syndrome	At least 1 encounter with ICD-10 code I45.81 in the last 3 years.	100%	Jul-2023	275
Thoracic aortic aneurysm and dissection	Enlarged aortic width (Z-score >2) from echo measurement at the Sinus of Valsalva at any date or ICD-10 code (I71.01, I71.1, I71.2, I71.5, I71.6, I77.810, I77.812) in the last 3 years.	94%	Jan-2024	518
Amyotrophic lateral sclerosis	At least 1 encounter with G12.21 in the last 3 years.	82%	Aug-2023	646
Early onset Alzheimer's disease	with ICD-10 code G30 in the last 3 years and the patient's first encounter with G30 (at any date) occurred before 60YO.	100%	Dec-2023	58
Early onset Parkinson's disease	with ICD-10 code G20 in the last 3 years and the patient's first encounter with G20 (at any date) occurred before 50YO	90%	Dec-2023	47
Myopathy	at least 1 encounter with G72.9 with a neuro specialist in the last 3 years.		Jan-2024	306
Frontotemporal dementia	At least 1 encounter with G31.0 in the last 3 years.	95%	Feb-2024	94