Busting the Top 10 Myths about Genetic Testing
Even though genetic tests are more available and affordable than ever, many patients and physicians still have misconceptions about them.
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11, 2022
6
10, 2022
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.”
6
09, 2022
How to help patients and providers navigate a diagnosis of muscular dystrophy
The journey to diagnosis and beyond for muscular dystrophy has changed profoundly over the past few years – let alone the past decade. For physicians and patients alike, this change can happen at a dizzying speed.
11
08, 2022
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.
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04, 2022
Exomes and Genomes: Starting Broad, And Early, With Genetic Testing
Reviewed by Bret Stetka, MD
Advances in human genetics have no doubt ushered in a new understanding of disease.
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03, 2022
The Argument for Whole Genome Testing
Reviewed by Bret Stetka, MD
Every cell in our bodies contains 3 billion base pairs, all twisted together in helices of DNA, that make up the human genome.