Medicine and Health Sciences Commons^™

Utility And Yield Of Genetic Testing Leading To A Definitive Neuromuscular Or Neuropathic Diagnosis At A Rural Outpatient Neurology Clinic Affiliated With A University Health Center In West Virginia Over 4 Years., Holly Farkosh, Dominika Lozowska

Marshall Journal of Medicine

Introduction

Clinicians are increasingly relying on genetic testing to pinpoint definite diagnoses. A more general diagnosis of neuropathy or neuromuscular disease like myopathy can be narrowed down substantially using genetic testing. Because carrier status is of utmost importance in reproductive matters, pathogenic results can prognosticate the future course of the illness and help plan ahead for treatment and social supports. Given the expense of genetic testing, it is important to assess the cost-benefit ratio to determine whether it is worthwhile to collect genetic samples. The purpose of the study was to determine the likelihood of obtaining a conclusive confirmatory diagnosis …

Refining A Postpandemic Approach To Cancer Screening, Michael A. Thompson

Journal of Patient-Centered Research and Reviews

In introducing Volume 8, Issue 4 of Journal of Patient-Centered Research and Reviews — a specially themed issue comprised of several works focused on improving cancer screening processes in clinical practice — JPCRR editor and hematologist/oncologist Michael Thompson reflects on the current state of various screening modalities and how the pandemic has already begun to shape ongoing research in this area. A delicate balance must be struck between avoiding overtesting or overdiagnosis and identifying the presence of malignant tumors early enough to allow for successful treatment.

Integrating Patient-Reported Outcomes Into Clinical Genetic Testing For Familial Hypercholesterolemia, Rachele M. Hendricks-Sturrup, Robert Block, Christine Y. Lu

Journal of Patient-Centered Research and Reviews

Patient-reported outcomes (PROs) and PRO measures (PROMs) are often used to help clinicians and researchers understand patients’ personal concerns, feelings, experiences, and perspectives following the implementation of an intervention. Notably, PROs and PROMs can inform health systems, health policy, and payers on the utility of clinical genetic testing based on each patient’s personal values, perspectives, and potential health behaviors subsequent to testing. In this topic synopsis, we discuss the underexplored role of and implications for PROs and PROMs following genetic testing for familial hypercholesterolemia (FH), an autosomal dominant genetic disorder of cholesterol metabolism that can lead to highly premature fatal …