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.
Even though genetic tests are more available and affordable than ever, many patients and physicians still have misconceptions about them.
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.”
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.
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.
Reviewed by Bret Stetka, MD
Advances in human genetics have no doubt ushered in a new understanding of disease.
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.