Category Archives: Big picture

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

Posted in About GHI, Big picture, Clinical genetics | Tagged , , , , | Leave a comment
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

Posted in About GHI, Big picture, Clinical genetics | Tagged , , , | Leave a comment
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

Posted in About GHI, Big picture, Clinical genetics | Tagged , , , , , | Leave a comment
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

Posted in About GHI, Big picture, Clinical genetics | Tagged , , | Leave a comment
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

Posted in About GHI, Big picture, Clinical genetics | Tagged , , | 1 Comment
Andreas Scherer

Precision Medicine – Part I

On January 30, 2015, the Precision Medicine Initiative was announced by President Obama. Many in our field, researchers and clinicians alike, recognize that such a program would bring additional funding into our space to design, develop and implement new diagnostic tests that are aiding physicians … Continue reading

Posted in About GHI, Big picture, Clinical genetics | Tagged , , , , | Leave a comment
Cheryl Rogers

Our top 5 most visited blog posts

Over the last year our blog has seen a boom in visits and of course, I became curious. What brings people to “Our 2 SNPs…”? So, I decided to take a look at the blog posts that our community find … Continue reading

Posted in Big picture | Leave a comment
Andreas Scherer

Question and Answers: Cancer Gene Panels Webcast

Last week we conducted a webcast on “Cancer Gene Panels”; you can find the recording here. We had some excellent questions which we answered during the webcast and a few more that we didn’t get to in the allotted time. … Continue reading

Posted in Big picture, Clinical genetics | Tagged , , , | Leave a comment
Andreas Scherer

Final thoughts on AGBT 2015

It was a great trip down to Florida this year. AGBT 2015 was an exciting event with lots of great presentations. For us in this tightly-knit community it is an excellent networking opportunity to catch up with existing clients and … Continue reading

Posted in Big picture | Tagged , , , , | 3 Comments
Andreas Scherer

Introducing Phenotype Gene Ranking in VarSeq

Personal genome sequencing is rapidly changing the landscape of clinical genetics. With this development also comes a new set of challenges. For example, every sequenced exome presents the clinical geneticist with thousands of variants. The job at hand is to find out … Continue reading

Posted in Assessment of new methods, Best practices in genetic analysis, Big picture, Clinical genetics | Tagged , , , , , , | Leave a comment