Category Archives: Clinical genetics

Gabe Rudy

The Clinical Genome Conference 2015 Highlights

This last week I had the pleasure of attending the fourth annual Clinical Genome Conference (TCGC) in Japantown, San Francisco and kicking off the conference by teaching a short course on Personal Genomics Variant Analysis and Interpretation. Some highlights of … Continue reading

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Andreas Scherer

Partnership with MedGenome

Just a few weeks ago we announced our partnership with MedGenome. The news was covered by a number of outlets including: Financial Express Pharmabiz Let me expIain the importance and impact of this announcement. Since Varseq was released, we have received … Continue reading

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Cheryl Rogers

Baby Genes is raising the bar for Newborn Screening

Today we wanted to share a recent client case study to demonstrate how VarSeq has been implemented in a CLIA certified clinical laboratory. Please feel free to contact us if you have questions or if you would like to discuss VarSeq … Continue reading

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Andrew Jesaitis

What’s in a Name: The Intricacies of Identifying Variants

There’s a strong desire in the genetics community for a set of canonical transcripts. It’s a completely understandable and reasonable thing to want since it would simplify many aspects of analysis and especially the downstream communicating and reporting of variants. … Continue reading

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Andreas Scherer

Precision Medicine – Part VII – Regulatory Issues

Regulatory bodies such as the Federal Drug Administration (FDA) already have a full plate. In the US, FDA-regulated products account for 20 percent of each dollar spent by American consumers each year. More specifically, the work of the regulatory authorities include the … Continue reading

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Andreas Scherer

Precision Medicine – Part VI – The Educational Challenge

Precision medicine will fundamentally change how health care is practiced. Of course, we have a long way to go. For most practitioners today, their knowledge of the human genome was established many years ago. However, new therapies and diagnostic methods … Continue reading

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Andreas Scherer

Precision Medicine – Part V – Bioinformatics Pipelines and Systems Infrastructure

The genetics industry is undergoing a fundamental shift from a clinical science focus to a bioinformatics focus. Genetic services require a greater level of data analytics sophistication than is required for other laboratory testing. Currently, data generated by new tests … Continue reading

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Andreas Scherer

Precision Medicine – Part IV – Adoption by Patients and Health Care Professionals

Precision Medicine leverages the most innovative technology advances in the field of genetics. The concept is “en vouge”! We know that the science will give us increasingly better treatment options. I have covered this in my previous blog post. But … Continue reading

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Andreas Scherer

Precision Medicine – Part III – Tailoring diagnostic and therapeutic strategies

Many have called Sir William Osler (1849-1910) the “Father of Modern Medicine”. He was one of the four founding professors of Johns Hopkins Hospital where he was instrumental in creating the first residency program for the specialty training of physicians. … Continue reading

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Andreas Scherer

Precision Medicine Part II – Reimbursement and Cost

The promise of Precision Medicine is to leverage highly targeted therapies for the benefit of the patient. By understanding better what makes us unique and leveraging our genetic make up, we hope to improve the outcome for the individual. Now, … Continue reading

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