Bringing the Promise of Precision Medicine to Rare Disease

My latest post as part of my work at Fabric Genomics.

Precision medicine is a form of medicine that uses information about a person’s own genes or proteins to prevent, diagnose, or treat disease.1 When we think of precision medicine, we often focus on cancer and the recent efforts to specifically target treatment based on the genetic composition of a tumor (somatic) or the person’s germline. While it is early days, the health gains of this approach are quite significant with better outcomes shown in multiple studies2 and even data showing lower overall health costs.3 However, the point of precision medicine is not only to optimize treatment for cancer, but also to target health interventions generally for all conditions. In fact, we see the application of precision medicine to high volume diseases such as diabetes and heart disease and even lifestyle interventions such as diet and exercise.

Nowhere is this more challenging than for patients suffering from a rare disease. Ironically it is common to have a rare disease. More than 25 million Americans and more than 400 million people worldwide suffer from one of over 7000 rare conditions, defined as those conditions having an incidence of 1 in 200,000 or less. Precision medicine has focused on big data approaches to studying more common conditions, thereby leaving out those with rare conditions. Lacking a diagnosis, most of these patients and their families are on a “diagnostic odyssey.” These patients typically spend more than five years seeking accurate diagnosis and might see up to eight doctors, often receiving many misdiagnoses and differing opinions on their journey. Along the way, they may be exposed to harmful treatments and invasive testing. It is clear that comprehensive genetic testing gives the best possibility of getting to the exact diagnosis efficiently. Still, historically, genetic data have been available to a minority of patients: only those referred to a clinical geneticist for testing.

For the complete post see https://fabricgenomics.com/2020/12/bringing-the-promise-of-precision-medicine-to-rare-disease/

Improving Health Outcomes for Infants with Pompe Disease

Fourth post as part of my work at Fabric Genomics

By Martin Reese & Laura Yecies

It was terrific to see this paper by our long time collaborator Arindam Bhattacharjeeon the use of NGS as a second-tier test for Pompe Disease (PD). This is part of an important diagnostic trend of earlier (even to the point of first-line for selected infants) use of NGS as a diagnostic tool that can dramatically improve the newborn’s projected health outcome. Pompe Disease is a perfect example of how this can work.

Background

PD is one of several glycogen storage diseases with variable timing of onset and rates of progressions. According to NORD, “Pompe disease is a rare multisystem disorder caused by pathogenic variations in the GAA gene containing the information for production and function of a protein called acid alpha-glucosidase (GAA). Because of the shortage of this protein (an enzyme), a complex sugar named ‘glycogen’ cannot be degraded to a simple sugar like glucose. This causes the glycogen to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle, and cardiac muscle, where it causes damage to tissue structure and function. Pompe disease is inherited as an autosomal recessive genetic trait.” Early diagnosis and initiation of treatment are of paramount importance at no later than two weeks of age to minimize muscle damage and avoid significant negative impact on the quality of life.

For the full post please see Fabric’s site here

Enabling NGS Testing and Precision Medicine with Fabric AI Technologies

I was invited to write about NGS on Xifin’s blog…

Next-Generation Sequencing (NGS) testing is experiencing tremendous growth driven at a high level by the promise of precision medicine and the life-changing power of applications in preventive genetic screening, somatic testing, and rare disease diagnosis. In all of these use cases, we see important clinical advances. Preventive genetic screening for risk factors such as BRCA mutations allows people to take preventative measures that save lives every day. Somatic mutation analysis allows for highly targeted therapies, and rare disease diagnosis is improving outcomes for babies in the NICU and providing hope for the 400 million people worldwide suffering from a rare disease.

For the full article please continue on Xifin’s site here

Accuracy is the New Speed

Second post as part of my work at Fabric Genomics

By Martin Reese & Laura Yecies

When caring for a critically ill child, two simultaneous thoughts are competing – the urgent need for a diagnosis to optimize treatment and the need for thoroughness – to carefully review all the possibilities.  Don’t jump to a conclusion but don’t get lost in the weeds keeping the patient, and the others behind them, in limbo.  We commonly see accuracy and speed as a dichotomy.  This has certainly been true in the past in genomics – how many variants to review? Review variants from less likely parts of the genome? Use a more restrictive filtering rule?

We had been operating in a world where deciding to use some of the heuristic shortcuts or to time limit review meant settling for less than optimal accuracy. Time-saving techniques left some diagnoses on the cutting room floor.  These simple Pareto prioritizations that are highly effective in dealing with everyday clinical situations are inherently problematic in the rare disease world.  We cannot eliminate the zebras when we know it’s unlikely to be a horse

Read more on the Fabric website here 

Delivering Better Care at a Lower Cost – a Case Study of Project Baby Bear at Rady’s Children’s Hospital

My first post as part of my work with http://www.FabricGenomics.com

By Martin Reese & Laura Yecies

The power and cost-effectiveness of AI are calling into question many of our assumptions about healthcare.  The most important dichotomy proving to be false is that providing the latest and most thorough diagnostic technology to optimize clinical outcomes is more expensive.  When we use AI to more comprehensively analyze cases we benefit from Moore’s law rapidly and continuously reducing costs.  By contrast, hospital-based care, especially when in an intensive setting such as the NICU is continuously increasing in cost. It is not surprising that when more extensive testing produces clinically actionable results that actually decrease hospital days we can accomplish the holy grail — better care and less expensive simultaneously…

Read more on the Fabric website here

 

Women’s History Month Podcast

Melinda Byerly and her team at “Stayin’ Alive in Tech” have put together a cool compendium from their various podcast interviews in honor of Women’s History Month and I’m thrilled to be included – you can see the post here

 

Women's History Month EVENT_2

 

Stayin Alive in Tech Podcast – “Good Life”

I had the great pleasure of being interviewed by my former employee and colleague and dear friend Melinda Byerly on her podcast Stayin Alive in Tech – you can listen here.  It’s a bit of a career and experience retrospective – I hope you enjoy listening as much as I enjoyed the conversation.

 

Hiring Tech Talent for Startups

I was recently interviewed by Andrea Smith of CyberCoders on how to recruit and interview for startups.  The war for talent here in the valley is fierce – I shared some of my approaches in this interview.

https://www.cybercoders.com/insights/qa-with-laura-yecies-ceo-of-neuro-technology-company-syncthink/

 

A Different Kind of Sync

I have had the good fortune to enjoy over 25 years of building a range of software businesses – enterprise and consumer – big companies and startups.   I loved the challenge and am proud of the positive impact of these products which have touched millions (SugarSync, Catch) and in some cases hundreds of millions (Netscape, Yahoo) of people.  As I looked toward my professional goals for the next 25 years, however, I felt there was a void I had not filled.  Perhaps it was my family values – growing up surrounded by doctors (both parents, father-in-law, multiple siblings, aunts, uncle, cousins) and having two sons and two daughters-in-law in healthcare (3 as MD’s and one PhD in cancer research, I’ve always wanted to be doing more to improve people’s lives in a more humanistic and direct way.

Many of the software products I worked on democratize access – bringing the proprietary big company technology to small businesses or consumers (e.g.SugarSync, ZoneAlarm).  Although the healthcare industry has traditionally been a late adopter, with the advent of cloud and mobile technologies and increasingly VR and AR – we are at a tipping point and I knew that using technology to drive this type of healthcare democratization and the potentially large associated businesses was what I wanted to work on next.

Through a confluence of fortunate events and connections I met the team at SyncThink and was immediately impressed by both the science (based on years of D.O.D. funded research) and the potential impact of its technology.  SyncThink has developed innovative eye-tracking technology analytics, delivered in customized Samsung VR headsets, that provide objective metrics for visual attention and dynamic orientation. It turns out that these metrics provide critical information about brain health by measuring our orientation and ability to pay attention to our environment.  Eye-tracking analytics can show patterns that correlate with such serious issues as concussion, ADHD, dementia, marijuana impairment and sleep deprivation.  The first application in sports in concussion and performance management but there is an even bigger potential impact in these other fields as well as occupational safety.

I was personally excited about the immediate term market – we are focusing on bringing our brain health platform to college and professional sports as well as the clinics who serve them.  As the mother of 3 sons who played Lacrosse, Rugby and Football in college and a daughter who played high school Lacrosse I resonated with that need recalling how I held my breath on the sidelines watching some serious and aggressive “contact”.   There are thousands of athletes whose health we can protect and improve with SyncThink.  I am thrilled to see SyncThink being deployed in universities such as the Pac-12 and beyond and love knowing that our home town champion Golden State Warriors are using SyncThink at the next level to both protect their players as well as measure and enhance their performance.

Of course with Sync in the name I knew it was “beshert” (destined) for me to join and was excited to get started.  We have lots of new tech and programs in the works – stay tuned for more to come!

 

 

 

The Technology That Time Forgot

Humans are social beings. We thrive in social groups and get work done more effectively when we team up with others. Good communication is key to the success of any group, and therefore it’s no wonder that tremendous technology investment and innovation has risen around fostering good communication. On the business side, team communication (aka Slack, Yammer, FaceBook for Work, Microsoft Teams) have evolved rapidly. Casual, personal messaging platforms have exploded with new tools, and a quick search of the Apple App Store yields multiple results—many of them with an attractive modern UI, thoughtful workflow, and clever feature set.

Unfortunately, not all of the tools on the market have evolved to foster and support the many different ways we work together and communicate to reach our goals.

What about Google Groups, Yahoo Groups and Listserv?

Log in to Google Groups or Yahoo Groups (or any ListServ in use by your organization) and you will enter a time machine transporting you back to the distant technology past, circa 1986, when ListServ was invented. Google and Yahoo entered the mix by 2001 with the acquisitions of E-Group and Deja News which combined list mailing with newsgroups and threaded discussions. It is interesting that these products were not even built in-house, and I know from my personal experience, as General Manager of Yahoo Mail, that Yahoo Groups received minimal investment.Screen-Shot-2017-02-27-at-11.11.16-AMThe widespread use of these groups cannot be overstated; estimates from internal sources reveal that there are more than one billion active groups with hundreds, and sometimes even thousands, of members. Furthermore, these groups are far from being graveyards or time capsules. While the last product update was over three years ago, billions of messages continue to be shared in these groups each month. As is often the case with big companies, Google and Yahoo focus on other products with much larger revenue. Older products that generate less revenue, such as Google Groups, ultimately get ignored and become abandonware.

Group Communication Grows Beyond Google Groups

While some exciting new products rise from emerging markets, another fertile ground for startups is revolutionizing the technologies with large user bases that have become abandonware. By staying laser focused on solving customer problems, these startups can fill a long-sought need among users who feel the frustration of being stuck with free tools that cost too much in time in efficiency to be worth the cost. Professional group and network communication is no exception and that huge opportunity led to the founding of Mobilize.

The founders of Mobilize, Sharon Savariego and Arthur Vainer, observed that many of these groups are of critical importance to their leaders, and the companies or organizations they support. These leaders need modern tools: a powerful, easy to use member database and an all-in-one solution for email, SMS, events with build-in-analytics.

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The Future of Network Communications

Our observation and thesis was validated by dozens of brand name customers such as Prezi, Looker, Etsy and Docker who transitioned off of Google and Yahoo groups to Mobilize to manage their thousands of global partners. For many years, these leaders had suffered from lack of efficiency—piecing together Google Groups, Meetup, Eventbrite, Excel and Doodle. With Mobilize, they finally had an integrated, efficient, professional system they could leverage to dramatically grow their groups and increase engagement. What’s more, Mobilize makes it super easy to convert existing Google and Yahoo Groups to the robust functionality of Mobilize Groups. After using the import wizard, leaders have at their fingertips a robust database of their members, powerful communication tools including email, SMS, polls and events and powerful analytics. Learning from our customers’ successes, a positive feedback loop ensued with Mobilize making improvements and adding features that attracted new customers.

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Clearly Google and Yahoo saw their Groups product as simply a consumer tool with limited revenue opportunity and put their priorities elsewhere. At Mobilize, we recognize the huge need for professional group communication with a well designed platform. The rapid adoption of Mobilize by over 150 leading brands is proof of this unmet need. In the new economy, organizations increasingly rely on large groups and networks outside their organization to achieve their missions—groups have become business-critical. More than 5,000 group leaders are using Mobilize to communicate with over 250,000 group members, and the platform is flexible enough to support groups as diverse as brand ambassadors, developers, marketplace sellers, resellers, product beta testers and many more. We estimate the professional group communication market to be valued at $65 billion. It’s growing quickly—driven by the increasing importance of network-driven businesses which require a robust platform. For that reason, it’s an exciting space to be working in, and one I’m thrilled to be supporting.

This post was originally published at http://blog.mobilize.io/google-groups-yahoo-groups-listserv/