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

AHSG 2015 Roundup – Big Data, Heritability, Epigenetics, Enhancers, and Patients as Partners

ASHG-2015-meeting-logoThe ASHG conference in Baltimore was accompanied by some broadly discussed highlights which are reflected in how the media and the social networks embraced it. It was nice to see that the coverage spanned not just commercial launches, but also included research highlights and other general announcements.

Before summarizing the different announcements, I want to state how exciting it was hearing Dr. Francis Collins (Director of NIH) talking about his vision of the new Precision Medicine Initiative (PMI) and the many opportunities it presents to advance its clinical application by creating a cohort of a million individuals. In his presentation, he was asking for a new rule of participants in health studies. In the same go he thanked the Henrietta Lacks family, which was present in the audience, for all they did to further science – the Henrietta Lacks’ descendants now serve as advisers to the NIH.

Another highlight of the conference was the first “Art and Science of Science Communication” session put in place by Chris Gunter, this year’s program Chair. The invited panel consisted of Ed Yong, staff scientist at The Atlantic and author of the blog “Not Exactly Rocket Science”, Liz Neeley, executive director of The Story Collider, and Andrea Downing, author of the blog Brave Bosom and creator of an online community 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.

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ACMG 2014 headlines included rethinking diagnostics, incidental findings, & variant interpretation

This year’s Annual Clinical Genetics Meeting was held in Nashville, Tennessee, and made this location for a couple of days a site of pilgrimage for genetics professionals (medical and clinical geneticists, physicians/clinicians, laboratory directors and technicians) and tool providers: Meeting participants were able to hear first-hand about the most recent clinical trends, obstacles, and new applications in how genetics and genomics are being integrated into clinical practice. The conference with its content rich sessions and talks and an ever-bigger exhibit was also accompanied by major new headlines and announcements that I want to summarize for you in this blog post.

ACMG

 

 

 Commercial partnership announcements

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