Skip to content

Posts from the ‘Genome’ Category

Gentle Sequenced All My Genes

Years ago, I had two direct-to-consumer (DTC) genomic tests. One with Navigenics and one with Pathway Genomics. Both tests gave me great insights about how this industry works and it was really exciting getting a clear picture about them as a geneticist myself. Although, when I saw the FDA-23andMe battle and the results, I was not surprised.

After these, I came across a new company, Gentle, a few weeks ago and had a chance to give a try to their genomic test. Why Gentle? Well, I had a few reasons:

  • They sequence all my genes, not just 1.9% of them as other DTC companies do.
  • They test me for 1700+ conditions (carrier status, from common to rare genetic disorders).
  • They provide revolutionary iOS apps.
  • I can download my raw data and I own it!

The package arrived, and I provided the required saliva sample. The process was quite simple.

fotó 1

 

With a personal note:

fotó 3

 

fotó 2

 

After a few weeks, I got access to my results and I was impressed. Here is the format they used to interpret my data:

gentle

 

I could take a look at my carrier status and it turned out my genome doesn’t really carry anything serious. A color coded circle let me discover the details and for each condition or disease, I could access a more detailed description.

5

 

The different layouts allowed me to discover the meanings behind the data in the way I preferred. Here is the chromosome view.

3

 

Finally, the genetic counselor scheduled a talk with me about my results and she answered all my questions.

In overall, Gentle told me things about my genome that are backed by scientific evidence; they let me download the raw data and analyze it in my own way and provided me with a lot of details focusing on those carrier statuses. They do everything regulations let them do and they do that by keeping an eye on scientific quality.

Here is a video about the service:

Human Longevity Inc. Launches To Make Us Live Longer

When Google launched Calico last year to find new solutions against aging, people thought that might be the ultimate attempt. Now, here is Human Longevity Inc., which has a much more scientific background for doing the same.

Human Longevity Inc. (HLI), a genomics and cell therapy-based diagnostic and therapeutic company focused on extending the healthy, high performance human life span, was announced today by co-founders J. Craig Venter, Ph.D., Robert Hariri, M.D., Ph.D., and Peter H. Diamandis, M.D.

The company, headquartered in San Diego, California, is being capitalized with an initial $70 million in investor funding.

It will also involve the biggest genome sequencing effort in history with the aim of sequencing the genomes of 100 000 people every year! Let’s follow them closely!

1

My CNN Article: 10 ways technology will save your life in the future

I was invited to write an article about 10 ways technology will save our lives in the future for CNN.com and I was happy to do so. It was featured today on the main page of CNN. I hope you will find it useful. Here is the introduction:

The medical and healthcare sectors are in the midst of rapid change, and it can be difficult to see which new technologies will have a long-lasting impact.

Ideally, the future of healthcare will balance innovative medical technologies with the human touch. Here, I’ve outlined the trends most likely to change our lives, now or in the near future.

140219121205-medical-technology-robotic-hand-story-top

The Era of the $1000 USD Genome? Not Yet!

When I started my PhD in 2009, the industry of genomics was really loud about the upcoming era of the 1000 USD genome. Then I met George Church at Scifoo organized in Googleplex and he told me the same, it was coming. Meanwhile, I finished my PhD in 2012, then one more year passed and now Illumina announced they have a machine that can sequence an entire human genome for about 1000 USD.

In the past few days, the press has been loud about the era of the 1000 USD genome. Well, did we call it the smartphone era when the first developments related to future smartphones became public? No! We started calling our time the smartphone era when I could walk into a store and buy an iPhone or an Android.

The same goes for the industry of genomics. We will live in the 1000 USD era when I can walk into a lab and have my genome sequenced for less than 1000 USD in days. It’s not here yet, although it’s coming.

Moreover, I don’t think the cost of sequencing your genome will be less than 1000 USD, but totally free!

DNA cubes

The Fastest DNA Sequencer: On USB

I’ve lived through the era of the Human Genome Project, then the Personal Genome Project, after that, the race to lower the price of genome sequencing, but what if sequencing your genome would cost nothing and you shouldn’t have to send your samples to laboratories full of sequencing machines, but you could sequence your genome at home using a USB stick.

We are not far from that.

To sequence anything longer than a few hundred base pairs, scientists mince up thousands of copies of the target DNA, sequence all the fragments, and use software to painstakingly reconstruct the order of the DNA bases by matching overlap within fragments. A new approach, called nanopore sequencing, can handle long strands of DNA at once, eliminating the need for overlap analysis. As a result, nanopore sequencers could be cheaper, faster, and more compact than other DNA sequencers. They can also accurately sequence stretches with many repeating base pairs. The MinION from Oxford Nanopore Technologies connects to a USB port. Soon, anyone with $1,000 and a computer will be able to sequence DNA.

dna

 

 

My New Genetic Test is on the Way: Gentle Analyzes 1700+ Conditions

I’ve had two direct-to-consumer genomic tests before with Navigenics and Pathway Genomics. The topic of analyzing the genetic background to make decisions about lifestyle is really close to my heart, although as someone with a PhD in clinical genomics I know exactly what scientific limitations those companies have to face. Therefore I was glad to get a  chance to order a Gentle genetic test and see how they try to tackle these problems. Gentle will sequence all my genes and test me for 1700+ medical conditions.

fotó 1

Here is a short interview with Peter Schols, CEO of Gentle Labs.

How does Gentle differ from all those direct-to-consumer genetic companies?

Gentle is different in many ways:
– We screen for over 1700 conditions, which is 5 times more than our closest competitor
– We screen more markers per condition, making our test more accurate and reliable
– We offer great mobile and web apps, check out our iPad app
– We don’t just dump results into people’s web accounts: we have genetic counseling with a medical doctor built-in

Prospective customers should have a look at this page for more info

How can companies performing sequencing compete with the next generation sequencing paradise in Beijing (Beijing Genomics Institute)?

We don’t want to compete on the sequencing itself: we outsource all lab work. Our focus is on DNA storage, DNA-analysis and on the communication of genetic test results.

The key part in a DTC genomic analysis is genetic counseling. Do your customers get access to such help in interpreting their results?

Absolutely, we have two levels of genetic counseling built-in: first of all, all test results are communicated by a medical doctor with a specialisation in medical genetics, through a teleconference. We have an exclusive agreement with Royal Doctors to provide our clients with the best medical geneticists worldwide. Alternatively, clients can choose to have the results communicated by their own doctor.

Secondly, our own Gentle geneticists are available to answer any questions our clients might have, whether it’s before taking the test or after discussing the results with the doctor. They’re are always there to help.

fotó 2

fotó 3

I cannot wait to get my results back which I will publish here as well.

The Guide to the Future of Medicine: Download the White Paper with Infographic

Being a medical futurist means I work on bringing disruptive technologies to medicine & healthcare; assisting medical professionals and students in using these in an efficient and secure way; and educating e-patients about how to become equal partners with their caregivers.

Based on what we see in other industries, this is going to be an exploding series of changes and while redesigning healthcare takes a lot of time and efforts, the best we can do is to prepare all stakeholders for what is coming next. That was the reason behind creating The Guide to the Future of Medicine white paper which you can download for free.

Future_cover_valasztott

Please use the Twitter hashtag #MedicalFuture for giving feedback.

In the white paper, there is an infographic featuring the main trends that shape the future of medicine visualized from 3 perspectives:

  1. Which stage of the delivery of healthcare and the practice of medicine is affected by that (Prevent & Prepare; Data Input & Diagnostics; Therapy & Follow-up; and Outcomes & Consequences);
  2. Whether it affects patients or healthcare professionals;
  3. The practicability of it (already available – green boxes; in progress – orange boxes; and still needs time – red boxes)

Click here to see the infographic in the original size.

Guide to the Future of Medicine Infographic

I hope you will find the guide useful in your work or in preparing your company and colleagues for the future of medicine.

Follow

Get every new post delivered to your Inbox.

Join 41,749 other followers

%d bloggers like this: