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.
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
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Use of genome sequencing in the prenatal diagnostic setting is steadily increasing. Karyotyping and chromosomal microarray (CMA) remain the leading strategies for investigating the potential genetic etiology of fetal structural anomalies; however, as more providers recognize the benefits of genome sequencing, its volume is increasing. This growing provider use has prompted position statements for the use
PerkinElmer Genomics offers whole genome sequencing (WGS) for every need: standard, prenatal, STAT, and ultrarapid. The clinical utility and relevance of WGS cannot be overstated. As demonstrated by this real case study from our laboratory, comprehensive WGS can finally bring answers to patients, families, and providers. Clinical Background 60-year-old male with a complex phenotype Progressive
WALTHAM, Mass. – May 16, 2022 – PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the availability of ultrarapid whole genome sequencing (urWGS) through PerkinElmer Genomics. This addition to the Company’s portfolio of whole genome sequencing (WGS) offerings provides physicians with comprehensive, meaningful results in five days to help inform clinical management and improve outcomes for critically ill patients in neonatal and pediatric intensive care units (NICUs and PICUs). With many genetic diseases being chronic and progressive in nature, reducing the time to reaching an accurate diagnosis can eliminate unnecessary procedures, initiate treatment and improve clinical outcomes.
In July 2021, The American College of Medical Genetics and Genomics (ACMG) released practice guidelines recommending that exome and genome sequencing be considered a first- or second-tier test for pediatric patients with congenital anomalies, developmental delay, or intellectual disability.1 ACMG’s systematic evidence-based review on the impact of exome and genome sequencing in this patient population found: Exome