Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Real-World Needs for Genetic Testing Reference Materials

From troublesome mutations to FDA validation studies

Posted by Matt Ryder on Jun 1, 2017 9:09:00 AM

“Happy families are all alike; every unhappy family is unhappy in its own way.”

I have always thought the opening of Anna Karenina applies for many things beyond familial harmony (or lack thereof).  Certainly, in the world of molecular genetic diagnostics, conclusive results are usually obtained for most patients; however, there are times when a final result is more elusive than conclusive.  When this occurs, it may seem as though no two challenges are ever the same.

The following are real examples – presented in general terms for patient and institutional confidentiality – of difficult, unanticipated, and even bizarre cases I encountered during my time in clinical testing for predisposition to hereditary disease.  Each of these situations required extraordinary effort, dedicated time, and additional resources for resolution.  At the end of each day, satisfaction came from knowing that another problem solved was another patient helped in making life-altering medical management decisions.

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Topics: next gen sequencing, limit of detection, homopolymers, sequencing, germline, wildtype allele

ebook CTA image square Jan2019

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