Diploid Tackles the Challenges of Rare Disease Diagnostics

enlightenbio is excited to introduce our new “Company Spotlight” blog series where we will review some of the exciting work that is currently ongoing in up- and-coming companies. Moving forward we plan on reviewing and profiling some of these companies and their products on a regular basis.

At ASHG, I had a chance to meet with Peter Schols, CEO of Diploid, a small seven person company located in Leuven, Belgium. I took this opportunity to learn more about Diploid, and Moon, the software the company has built, and its intended application to help diagnose rare disease.

The following summarizes questions and answers from my dialogue with Peter Schols.

EB: Tell us more about Diploid – what need are you trying to address and what services do you offer?

PS: Diploid is a privately funded, rare disease diagnostics company founded in 2014. Diploid started with offering an interpretation service, helping our customers analyze rare disease sequence data. Customers send us NGS data of a patient together with a description of the phenotype, and we deliver a report listing the most likely candidate variants. We focus exclusively on rare disease testing and currently support the Continue reading

Can 2017 top 2016?

In the life sciences, 2016 brought us many significant developments, and thank goodness, it’s mostly exciting and great to talk about those in length. I am talking here about technological advancements, the many new applications next-generation sequencing is seeing, genetics moving into the clinic, precision medicine finding its mark in oncology and beyond, immunotherapy establishing itself as the leading weapon to attack cancer, and more.

The significance of these developments is further manifested with clinical omics taking shape, hospitals adopting new applications, and testing and treatments that are based on next-generation sequencing, omics data, and more. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.

Here a few highlights – not an all-inclusive summary – of what made 2016 so exciting.

2016

Next-generation sequencing matures

In 2016, we’ve reached a stage where the limitations of next-generation sequencing is not at the level of sequence data generation anymore, rather the limitations are associated Continue reading

The JP Morgan Healthcare Conference from Afar

This being an invitation-only conference, I had to follow the JP Morgan Healthcare conference from a distance. As we have witnessed in the past, exciting announcements happen here in San Francisco around or just before this annual conference and some of the news spark what eventually will become the big trends throughout the year. One could say it is a window to what is just around the corner in 2016.

#jpm

Obviously, Illumina made quite the splash with two separate announcements: (1) launch of the new company Grail – major co-investors include Bill Gates, Jeff Bezos, and others – focusing on pre-symptomatic cancer testing based on the hot liquid biopsy-based Continue reading

The Life of a Genetic Counselor: Providing Patient Education, Navigating Insurance, and Challenges in Choosing Tests

dna-163466Recently I got a glimpse of life as a genetic counselor when I spoke with Kerry Kingham from the Stanford Cancer Center. So many of us in the genomics community come from the worlds of technology and science — I thought enlightenbio readers might find this clinical information as useful as I did.

Kerry started out in biology but earned her master’s degree in genetic counseling at Berkeley, a career path that requires board certification, state licensing, and ongoing education. Her job entails what you might expect from genetic counseling: providing education to patients to help make informed decisions on genetic testing, including dealing with insurance companies and other logistics, as well as teaching students.

AngelinaEffectTypically, Kerry’s workday starts at 8:30 am, when she meets with the rest of the team to discuss the day’s cases. She sees about 25 to 30 patients per month, a significant increase even from last year’s numbers. Stanford Hospitals & Clinics alone has seen a doubling in the number of patients between October 2013 and February 2014 (from approximately 60 to more than 100 patients in six months and this at the Cancer Center alone). Kerry attributes much of that to the Angelina Jolie effect: the actress’s decision to go public about her BRCA status and prophylactic double mastectomy, which has encouraged many more people to find out about their own genetic information. Most patients are referred to the clinic by their physician and some are self-referred and are seen by a genetic counselor alone or with a genetic counselor and a physician.

Continue reading