Tag Archives: FDA

ACMG 2018 – “There is Still So Much We Have to Learn”

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This year’s ACMG conference in Charlotte, North Carolina, included a very well received first installment of TED-style talks which reflected on the evolution and impact of healthcare. All three talks delivered by Kaylene Ready (Director of Inherited Cancer and a Genetics Counselor, Counsyl), Christian Schaaf (Professor Clinical Genomics, University of Cologne), and Wendy Chung (Associate Professor of Pediatrics, Columbia University Irving Medical Center) were inspirational, and were considered a great addition to ACMG 2018. Takeaways and key messages included: “treat every patient like patient No. 1, always keeping them at the center of the work, and us working as mediators rather than as a barrier”. Image credit: @DeniseCalvert13

Some statistical numbers were eye-opening and challenging as it comes as no surprise that the community currently lacks genetic counselors (GCs), with fewer than 4,000 GCs and 2,000s medical geneticists in the US which translates to one geneticist per ~60,000 people. With new genetic tests generated every day, GCs need to take on the role of mediators. New operational solutions were discussed to address this shortcoming, and as such Kaylene Ready proposed the exploration of chatbots as alternatives to GC service delivery. While certainly an interesting suggestion, we will have to see whether the field with its customers (i.e. patients) is ready to discuss challenging genetics findings with a computer. As a result, it was suggested to decouple Continue reading →

PMWC 2017 Silicon Valley: Data sharing, privacy, and security

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pmwc2017sv-logoThis year’s Precision Medicine World Conference (PMWC 2017 Silicon Valley) was comprised of many exciting sessions and presentations (almost 300 speakers across four tracks) in the area of next-generation sequencing, different diagnostics applications, precision medicine, big data analysis, the microbiome, large cohort studies, biobanking, and data interpretation/knowledge extraction. In addition to providing a great set of overview talks on latest developments and achievements across the health care sector, in pharma, and related to regulatory aspects, this latest rendition of PMWC also featured a government presence (the former FDA Commissioner Dr. Robert Califf and the former Cancer Moonshot Task Force Director Greg Simon) and Elizabeth Baca (Health Advisor to Governor Brown’s Office of Planning and Research) among others that shared with the audience their respective Continue reading →

Can 2017 top 2016?

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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 →

2015 – A Year of Health Initiatives, Commercial Milestones, Company Acquisitions, and Scientific Achievements

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2015 was a fast moving and busy year in the many fields of science, next-generation sequencing, diagnostics, and of course precision medicine. A lot can be attributed to technological advancements particularly in next-generation sequencing which has shaped where we are today. Resulting applications are growing, building on major research findings, evident in the clinic and in industry achievements in areas of aging, obesity, the precision medicine initiative, diagnostics, the $1,000 genome, liquid biopsy, NIPT, new approaches towards breast cancer treatment, and much more.

PMiUnprecedented press clearly went to the purposeful Precision Medicine Initiative (PMI) with its launch at the State of the Union address by the President in early 2015. Since then this year has brought us a flurry of activities related to this prominent initiative: building an advisory committee to the NIH Director (ACD), the creation and approval of the ACD’s working group report, the announcement of initial funding opportunities, the
White House addressing and releasing Privacy and Trust Principles, the announcement of the 2016 budget, and last but not least the launch of the precisionFDA community platform at the end of the year.

Companies have reached new milestones. 23andMe, with a $1 Billion evaluation, has entered the drug discovery arena via building its own unit and large pharmaceutical collaborations that will mine their massive customer DNA database (>800,000). The Continue reading →