How the Clinical Reporting Team is the New Sherlock Holmes in Genetics

Patients with rare diseases have much to gain from whole genome testing. Many times a condition may be so rare that physicians have not diagnosed or seen that particular condition.   “On average from the time that a first symptom appears, an individual might see anywhere from 16 to 17 healthcare specialists before they get their diagnosis,” says Collins. “And that period of time on average is about seven to 10 years, which is a pretty significant amount of time that patients are searching for answers and trying to find out the cause of their medical issues.”

Interview with Dr. Hegde on the advances in genomic testing and the current landscape

Read this candid interview with Dr. Madhuri Hegde as she discusses the strategy of PerkinElmer Genomics of combining genomic sequencing with a functional enzyme assay, and why whole genome sequencing is our focus and mission. She also reflects on how genomic testing has advanced in the last five years and what that means for providers and their patients.

Panels and exome sequencing: Comprehensive solutions for cardiomyopathies

Mutations in the MYH7 and MYBPC3 genes account for approximately 50%1 of cases of hypertrophic cardiomyopathy (HCM). But HCM can also be caused by pathogenic variants in many genes (genetic heterogeneity), including seven additional sarcomeric genes (MYBPC3, TNNT2, TPM1, MYL2, MYL3, TNNI3, ACTC1). Further complicating the HCM picture are disorders such as Pompe disease, Fabry disease, PRKAG2‐cardiomyopathy, Danon disease, TTR‐amyloidosis, and other conditions due to mitochondrial dysfunctions that present with HCM and phenotypically mimic isolated HCM.2 Dilated cardiomyopathy (DCM) is also inherited with more than 60 genes that have been associated with disease in various studies.4 Traditional testing using gene panels is generally accepted in patients